TTN titin [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTNprovided by HGNC
Official Full Name: titinprovided by HGNC
Primary source: HGNC:HGNC:12403
See related: Ensembl:ENSG00000155657 MIM:188840; AllianceGenome:HGNC:12403
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TMD; CMH9; CMD1G; CMPD4; CMYP5; EOMFC; HMERF; MYLK5; SALMY; LGMD2J; LGMDR10
Summary: This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
Expression: Biased expression in heart (RPKM 14.7), prostate (RPKM 1.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.2

Exon count:: 364

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (178525989..178807423, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (179008783..179290485, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (179390716..179672150, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy.
Title: Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy.
Titin copy number variations associated with dominant inherited phenotypes.
Title: Titin copy number variations associated with dominant inherited phenotypes.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Title: Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Title: Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice.
Title: The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice.
Severe cardiac conduction disease associated with titin gene mutation.
Title: Severe cardiac conduction disease associated with titin gene mutation.
TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance.
Title: TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance.
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Title: Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.
Title: Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.
Left Atrial Function in Patients with Titin Cardiomyopathy.
Title: Left Atrial Function in Patients with Titin Cardiomyopathy.

Submit: New GeneRIF Correction See all GeneRIFs (264)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2J MedGen: C1837342 OMIM: 608807 GeneReviews: Not available	Compare labs
Dilated cardiomyopathy 1G MedGen: C1858763 OMIM: 604145 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Early-onset myopathy with fatal cardiomyopathy MedGen: C2673677 OMIM: 611705 GeneReviews: Salih Myopathy	Compare labs
Hypertrophic cardiomyopathy 9 MedGen: C1861065 OMIM: 613765 GeneReviews: Not available	Compare labs
Myopathy, myofibrillar, 9, with early respiratory failure MedGen: C1863599 OMIM: 603689 GeneReviews: Hereditary Myopathy with Early Respiratory Failure	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Tibial muscular dystrophy MedGen: C1838244 OMIM: 600334 GeneReviews: Udd Distal Myopathy - Tibial Muscular Dystrophy	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-08-02) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-08-02) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TTN_3879 (e-PCR)
- UniSTS:462604

D2S385 (e-PCR), detects polymorphism
- UniSTS:14095

D2S324 (e-PCR), detects polymorphism
- UniSTS:16911

SHGC-62013 (e-PCR)
- UniSTS:27408

D2S2648 (e-PCR)
- UniSTS:75793

RH48674 (e-PCR)
- UniSTS:32026

MARC_21540-21541:1033053987:1 (e-PCR)
- UniSTS:268573

RH65366 (e-PCR)
- UniSTS:73247

D2S385 (e-PCR), detects polymorphism
- UniSTS:50480

RH44253 (e-PCR)
- UniSTS:31799

D2S1524E (e-PCR)
- UniSTS:45880

TTN-1 (e-PCR)
- UniSTS:254009

A004O05 (e-PCR)
- UniSTS:81724

RH65766 (e-PCR)
- UniSTS:17479

SHGC-150597 (e-PCR)
- UniSTS:173393

D2S1518E (e-PCR)
- UniSTS:150612

D2S1532E (e-PCR)
- UniSTS:150620

D2S1540E (e-PCR)
- UniSTS:150626

D2S1546E (e-PCR)
- UniSTS:150631

D2S1550E (e-PCR)
- UniSTS:150635

RH98821 (e-PCR)
- UniSTS:85869

D2S1553E (e-PCR)
- UniSTS:150638

D2S1555E (e-PCR)
- UniSTS:150640

D2S1560E (e-PCR)
- UniSTS:150645

D2S1564E (e-PCR)
- UniSTS:150649

D2S1568E (e-PCR)
- UniSTS:150652

D2S1570E (e-PCR)
- UniSTS:150654

D2S1571E (e-PCR)
- UniSTS:150655

D2S1572E (e-PCR)
- UniSTS:150656

D2S1574E (e-PCR)
- UniSTS:150658

D2S1580E (e-PCR)
- UniSTS:150664

RH78892 (e-PCR)
- UniSTS:398

A008T22 (e-PCR)
- UniSTS:24210

D2S1591E (e-PCR)
- UniSTS:150675

D2S1593E (e-PCR)
- UniSTS:150677

RH65621 (e-PCR)
- UniSTS:70042

D2S324 (e-PCR), detects polymorphism
- UniSTS:76702

RH65575 (e-PCR)
- UniSTS:58532

MARC_23497-23498:1027358865:1 (e-PCR)
- UniSTS:268713

D2S1519E (e-PCR)
- UniSTS:22697

G59490 (e-PCR)
- UniSTS:136654

D2S2384 (e-PCR)
- UniSTS:9422

D2S1881 (e-PCR)
- UniSTS:153573

RH91877 (e-PCR)
- UniSTS:89075

D2S364 (e-PCR), detects polymorphism
- UniSTS:5883

Clone Names

FLJ26020, FLJ26409, FLJ32040, FLJ34413, FLJ39564, FLJ43066, DKFZp451N061

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables actinin binding	IDA Inferred from Direct Assay more info	PubMed
enables actinin binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables calmodulin binding	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables muscle alpha-actinin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed
enables structural molecule activity conferring elasticity	IDA Inferred from Direct Assay more info	PubMed
enables structural molecule activity conferring elasticity	TAS Traceable Author Statement more info	PubMed
enables telethonin binding	IPI Inferred from Physical Interaction more info	PubMed
enables telethonin binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of muscle stretch	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of muscle stretch	TAS Traceable Author Statement more info	PubMed
involved_in mitotic chromosome condensation	IEP Inferred from Expression Pattern more info	PubMed
involved_in muscle contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein kinase A signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of catalytic activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomerogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle myosin thick filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle thin filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in striated muscle contraction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: titin

Names: connectin; rhabdomyosarcoma antigen MU-RMS-40.14

NP_001243779.1

EC 2.7.11.1

NP_001254479.2

EC 2.7.11.1

NP_003310.4

EC 2.7.11.1

NP_596869.4

EC 2.7.11.1

NP_596870.2

EC 2.7.11.1

NP_597676.3

EC 2.7.11.1

NP_597681.4

EC 2.7.11.1

XP_016860308.1

EC 2.7.11.1

XP_016860309.1

EC 2.7.11.1

XP_016860310.1

EC 2.7.11.1

XP_016860311.1

EC 2.7.11.1

XP_016860312.1

EC 2.7.11.1

XP_024308863.1

EC 2.7.11.1

XP_024308865.1

EC 2.7.11.1

XP_024308866.1

EC 2.7.11.1

XP_024308867.1

EC 2.7.11.1

XP_024308868.1

EC 2.7.11.1

XP_047301616.1

EC 2.7.11.1

XP_047301617.1

EC 2.7.11.1

XP_047301619.1

EC 2.7.11.1

XP_047301621.1

EC 2.7.11.1

XP_047301624.1

EC 2.7.11.1

XP_054199629.1

EC 2.7.11.1

XP_054199630.1

EC 2.7.11.1

XP_054199631.1

EC 2.7.11.1

XP_054199632.1

EC 2.7.11.1

XP_054199633.1

EC 2.7.11.1

XP_054199634.1

EC 2.7.11.1

XP_054199635.1

EC 2.7.11.1

XP_054199636.1

EC 2.7.11.1

XP_054199637.1

EC 2.7.11.1

XP_054199638.1

EC 2.7.11.1

XP_054199639.1

EC 2.7.11.1

XP_054199640.1

EC 2.7.11.1

XP_054199641.1

EC 2.7.11.1

XP_054199642.1

EC 2.7.11.1

XP_054199643.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011618.3 RefSeqGene

Range

28380..309814

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_391

mRNA and Protein(s)

NM_001256850.1 → NP_001243779.1 titin isoform N2BA

See identical proteins and their annotated locations for NP_001243779.1

Status: REVIEWED

Description

Transcript Variant: This variant (N2BA) encodes another major cardiac isoform (N2BA). It includes the N2A and N2B exons, and also the PEVK region. This variant is supported by annotation on DNA accession AJ277892.2 and by accompanying data in PMIDs 10850961 and 11717165.

Source sequence(s)

AC009948, AC010680, AC023270, FJ695199

UniProtKB/Swiss-Prot

A6NKB1, E7EQE6, E7ET18, K7ENY1, Q10465, Q10466, Q15598, Q2XUS3, Q32Q60, Q4U1Z6, Q4ZG20, Q6NSG0, Q6PDB1, Q6PJP0, Q7KYM2, Q7KYN4, Q7KYN5, Q7LDM3, Q7Z2X3, Q8TCG8, Q8WZ42, Q8WZ51, Q8WZ52, Q8WZ53, Q8WZB3, Q92761, Q92762, Q9UD97, Q9UP84, Q9Y6L9

UniProtKB/TrEMBL

C0JYZ2

Related

ENSP00000465570.1, ENST00000591111.5

Conserved Domains (16) summary

cd00096
Location:5899 → 5968

Ig; Immunoglobulin domain

cd05747
Location:33485 → 33576

Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins

cd05748
Location:21720 → 21791

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins

smart00408
Location:4678 → 4744

IGc2; Immunoglobulin C-2 Type

smart00060
Location:16425 → 16509

FN3; Fibronectin type 3 domain

smart00220
Location:32178 → 32432

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00409
Location:20232 → 20312

IG; Immunoglobulin

smart00410
Location:28207 → 28289

IG_like; Immunoglobulin like

cd00063
Location:25829 → 25921

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:8888 → 8977

I-set; Immunoglobulin I-set domain

cd14104
Location:32177 → 32453

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam00047
Location:6824 → 6907

ig; Immunoglobulin domain

pfam02818
Location:10955 → 10981

PPAK; PPAK motif

pfam05104
Location:10120 → 10296

Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

pfam13895
Location:13398 → 13462

Ig_2; Immunoglobulin domain

cl11960
Location:24569 → 24642

Ig; Immunoglobulin domain
NM_001267550.2 → NP_001254479.2 titin isoform IC

Status: REVIEWED

Description

Transcript Variant: This variant (IC) represents an inferred complete model that includes all possible supported in-frame coding exons. The exons included in this inferred variant are supported by the original sequence analysis, publication data(PMID:11717165), available cDNA and EST data, and additional sequence analysis of the repetitive exons. This transcript is the longest and represents a 363-exon model encoding a predicted protein (isoform IC) of 35,991 amino acids.

Source sequence(s)

AC009948, AC010680, AC023270, FJ695199, KF459616

Consensus CDS

CCDS59435.1

UniProtKB/TrEMBL

A0A0A0MTS7, C0JYZ2

Related

ENSP00000467141.1, ENST00000589042.5

Conserved Domains (17) summary

cd00096
Location:7340 → 7409

Ig; Immunoglobulin domain

cd05747
Location:35126 → 35217

Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins

cd05748
Location:22567 → 22640

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins

smart00408
Location:4995 → 5061

IGc2; Immunoglobulin C-2 Type

smart00060
Location:18066 → 18150

FN3; Fibronectin type 3 domain

smart00220
Location:33819 → 34073

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00409
Location:21873 → 21953

IG; Immunoglobulin

smart00410
Location:29848 → 29930

IG_like; Immunoglobulin like

cd00063
Location:27470 → 27562

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:9205 → 9294

I-set; Immunoglobulin I-set domain

cd14104
Location:33818 → 34094

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam00047
Location:7141 → 7224

ig; Immunoglobulin domain

pfam02818
Location:11272 → 11298

PPAK; PPAK motif

pfam05104
Location:10437 → 10613

Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

pfam13895
Location:15039 → 15103

Ig_2; Immunoglobulin domain

pfam16031
Location:12286 → 12406

TonB_N; TonB N-terminal region

cl11960
Location:26210 → 26283

Ig; Immunoglobulin domain
NM_003319.4 → NP_003310.4 titin isoform N2-B

Status: REVIEWED

Description

Transcript Variant: This variant (N2-B) encodes the major cardiac muscle isoform (N2-B). It lacks multiple exons in the region encoding PEVK repeats. This results in a shortened PEVK region in isoform N2-B compared to isoform IC. This variant is supported by data in PMIDs 10850961 and 11717165.

Source sequence(s)

AC009948, AC010680, AC023270, FJ695199

Consensus CDS

CCDS54421.1

UniProtKB/TrEMBL

C0JYZ2

Related

ENSP00000434586.1, ENST00000460472.6

Conserved Domains (13) summary

cd00096
Location:24053 → 24120

Ig; Immunoglobulin domain

cd05747
Location:26061 → 26152

Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins

cd05748
Location:14296 → 14367

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins

smart00408
Location:910 → 976

IGc2; Immunoglobulin C-2 Type

smart00060
Location:9001 → 9085

FN3; Fibronectin type 3 domain

smart00220
Location:24754 → 25008

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00409
Location:17823 → 17904

IG; Immunoglobulin

smart00410
Location:20783 → 20865

IG_like; Immunoglobulin like

cd00063
Location:18405 → 18497

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:6 → 97

I-set; Immunoglobulin I-set domain

cd14104
Location:24753 → 25029

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam13895
Location:5974 → 6038

Ig_2; Immunoglobulin domain

cl11960
Location:17145 → 17218

Ig; Immunoglobulin domain
NM_133378.4 → NP_596869.4 titin isoform N2-A

Status: REVIEWED

Description

Transcript Variant: This variant (N2-A) encodes isoform N2-A, which is the predominant titin isoform in skeletal muscle. This variant lacks the N2B region but includes the PEVK region. This variant is supported by data in PMIDs 7569978, 10850961 and 11717165.

Source sequence(s)

AC009948, AC010680, AC023270, FJ695199

Consensus CDS

CCDS54424.1

UniProtKB/TrEMBL

C0JYZ2

Related

ENSP00000343764.6, ENST00000342992.11

Conserved Domains (16) summary

cd00096
Location:4972 → 5041

Ig; Immunoglobulin domain

cd05747
Location:32558 → 32649

Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins

cd05748
Location:19999 → 20072

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins

smart00408
Location:3751 → 3817

IGc2; Immunoglobulin C-2 Type

smart00060
Location:15498 → 15582

FN3; Fibronectin type 3 domain

smart00220
Location:31251 → 31505

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00409
Location:27280 → 27362

IG; Immunoglobulin

smart00410
Location:19305 → 19385

IG_like; Immunoglobulin like

cd00063
Location:24902 → 24994

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:7961 → 8050

I-set; Immunoglobulin I-set domain

cd14104
Location:31250 → 31526

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam00047
Location:5897 → 5980

ig; Immunoglobulin domain

pfam02818
Location:10028 → 10054

PPAK; PPAK motif

pfam05104
Location:9193 → 9369

Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

pfam13895
Location:12471 → 12535

Ig_2; Immunoglobulin domain

cl11960
Location:23642 → 23715

Ig; Immunoglobulin domain
NM_133379.5 → NP_596870.2 titin isoform novex-3

See identical proteins and their annotated locations for NP_596870.2

Status: REVIEWED

Source sequence(s)

AC023270, BX537998

Consensus CDS

CCDS33337.1

UniProtKB/Swiss-Prot

Q8WZ42

UniProtKB/TrEMBL

Q7Z3B7

Related

ENSP00000354117.4, ENST00000360870.10

Conserved Domains (6) summary

cd00096
Location:3521 → 3594

Ig; Immunoglobulin domain

smart00408
Location:956 → 1022

IGc2; Immunoglobulin C-2 Type

smart00410
Location:3154 → 3233

IG_like; Immunoglobulin like

pfam07679
Location:6 → 97

I-set; Immunoglobulin I-set domain

pfam09042
Location:468 → 491

Titin_Z; Titin Z

cl11960
Location:26 → 97

Ig; Immunoglobulin domain
NM_133432.3 → NP_597676.3 titin isoform novex-1

Status: REVIEWED

Description

Transcript Variant: This variant (novex-1) encodes the minor cardiac muscle isoform (novex-1 or novex-1/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 125 aa in the I-band region. This variant is supported by data in PMID:11717165.

Source sequence(s)

AC009948, AC010680, AC023270, FJ695199

Consensus CDS

CCDS54423.1

UniProtKB/TrEMBL

C0JYZ2

Related

ENSP00000352154.5, ENST00000359218.10

Conserved Domains (13) summary

cd00096
Location:24178 → 24245

Ig; Immunoglobulin domain

cd05747
Location:26186 → 26277

Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins

cd05748
Location:14421 → 14492

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins

smart00408
Location:910 → 976

IGc2; Immunoglobulin C-2 Type

smart00060
Location:9126 → 9210

FN3; Fibronectin type 3 domain

smart00220
Location:24879 → 25133

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00409
Location:16865 → 16945

IG; Immunoglobulin

smart00410
Location:20908 → 20990

IG_like; Immunoglobulin like

cd00063
Location:18530 → 18622

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:6 → 97

I-set; Immunoglobulin I-set domain

cd14104
Location:24878 → 25154

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam13895
Location:6099 → 6163

Ig_2; Immunoglobulin domain

cl11960
Location:17270 → 17343

Ig; Immunoglobulin domain
NM_133437.4 → NP_597681.4 titin isoform novex-2

Status: REVIEWED

Description

Transcript Variant: This variant (novex-2) encodes the minor cardiac and skeletal muscle isoform (novex-2 or novex-2/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 192 aa in the I-band region. This variant is supported by data in PMID:11717165.

Source sequence(s)

AC009948, AC010680, AC023270, FJ695199, KF459616

Consensus CDS

CCDS54422.1

UniProtKB/TrEMBL

A0A0A0MRA3, C0JYZ2

Related

ENSP00000340554.6, ENST00000342175.11

Conserved Domains (13) summary

cd00096
Location:24245 → 24312

Ig; Immunoglobulin domain

cd05747
Location:26253 → 26344

Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins

cd05748
Location:14488 → 14559

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins

smart00408
Location:910 → 976

IGc2; Immunoglobulin C-2 Type

smart00060
Location:9193 → 9277

FN3; Fibronectin type 3 domain

smart00220
Location:24946 → 25200

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00409
Location:16932 → 17012

IG; Immunoglobulin

smart00410
Location:20975 → 21057

IG_like; Immunoglobulin like

cd00063
Location:18597 → 18689

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:6 → 97

I-set; Immunoglobulin I-set domain

cd14104
Location:24945 → 25221

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam13895
Location:6166 → 6230

Ig_2; Immunoglobulin domain

cl11960
Location:17337 → 17410

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

178525989..178807423 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004821.1 → XP_016860310.1 titin isoform X6

UniProtKB/TrEMBL

C0JYZ2
XM_017004820.1 → XP_016860309.1 titin isoform X5

UniProtKB/TrEMBL

C0JYZ2
XM_024453099.1 → XP_024308867.1 titin isoform X14

UniProtKB/TrEMBL

C0JYZ2

Conserved Domains (11) summary

cd05747
Location:26091 → 26182

Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains

smart00060
Location:9031 → 9115

FN3; Fibronectin type 3 domain

smart00409
Location:6004 → 6068

IG; Immunoglobulin

smart00410
Location:4753 → 4823

IG_like; Immunoglobulin like

cd00063
Location:18435 → 18527

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:6 → 97

I-set; Immunoglobulin I-set domain

cd14104
Location:24783 → 25059

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

cd05748
Location:13532 → 13605

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains

cl11960
Location:21508 → 21581

Ig; Immunoglobulin domain

cl26511
Location:413 → 725

Neuromodulin_N; Gap junction protein N-terminal region

cl28434
Location:2079 → 2169

I-set; Immunoglobulin I-set domain
XM_017004823.1 → XP_016860312.1 titin isoform X13

UniProtKB/TrEMBL

C0JYZ2
XM_047445668.1 → XP_047301624.1 titin isoform X9
XM_024453098.1 → XP_024308866.1 titin isoform X12

UniProtKB/TrEMBL

C0JYZ2

Conserved Domains (14) summary

cd05747
Location:32170 → 32261

Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains

smart00060
Location:15110 → 15194

FN3; Fibronectin type 3 domain

smart00409
Location:12083 → 12147

IG; Immunoglobulin

smart00410
Location:10925 → 10989

IG_like; Immunoglobulin like

cd00063
Location:24514 → 24606

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:8889 → 8978

I-set; Immunoglobulin I-set domain

cd14104
Location:30862 → 31138

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam05104
Location:10121 → 10297

Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

pfam16031
Location:10211 → 10304

TonB_N; TonB N-terminal region

cd05748
Location:19611 → 19684

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains

cl11960
Location:24336 → 24410

Ig; Immunoglobulin domain

cl26464
Location:10211 → 10556

Atrophin-1; Atrophin-1 family

cl26511
Location:413 → 725

Neuromodulin_N; Gap junction protein N-terminal region

cl28434
Location:9673 → 9755

I-set; Immunoglobulin I-set domain
XM_024453097.1 → XP_024308865.1 titin isoform X11

UniProtKB/TrEMBL

C0JYZ2

Conserved Domains (13) summary

cd05747
Location:32197 → 32288

Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains

smart00060
Location:15137 → 15221

FN3; Fibronectin type 3 domain

smart00410
Location:12110 → 12174

IG_like; Immunoglobulin like

cd00063
Location:24541 → 24633

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:8889 → 8978

I-set; Immunoglobulin I-set domain

cd14104
Location:30889 → 31165

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam02818
Location:10446 → 10472

PPAK; PPAK motif

pfam16031
Location:10211 → 10301

TonB_N; TonB N-terminal region

cd05748
Location:19638 → 19711

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains

cl11960
Location:24363 → 24437

Ig; Immunoglobulin domain

cl26464
Location:10207 → 10496

Atrophin-1; Atrophin-1 family

cl26511
Location:9961 → 10336

Neuromodulin_N; Gap junction protein N-terminal region

cl28434
Location:9673 → 9755

I-set; Immunoglobulin I-set domain
XM_017004822.1 → XP_016860311.1 titin isoform X10

UniProtKB/TrEMBL

C0JYZ2
XM_047445665.1 → XP_047301621.1 titin isoform X8
XM_047445663.1 → XP_047301619.1 titin isoform X7
XM_024453095.1 → XP_024308863.1 titin isoform X4

UniProtKB/TrEMBL

C0JYZ2

Conserved Domains (15) summary

cd05747
Location:33272 → 33363

Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains

smart00060
Location:16212 → 16296

FN3; Fibronectin type 3 domain

smart00409
Location:13185 → 13249

IG; Immunoglobulin

smart00410
Location:11934 → 12004

IG_like; Immunoglobulin like

COG0810
Location:10210 → 10335

TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]

cd00063
Location:25616 → 25708

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:8889 → 8978

I-set; Immunoglobulin I-set domain

cd14104
Location:31964 → 32240

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam02818
Location:10956 → 10982

PPAK; PPAK motif

cd05748
Location:20713 → 20786

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains

cl11960
Location:28689 → 28762

Ig; Immunoglobulin domain

cl25526
Location:11286 → 11376

TonB_N; TonB N-terminal region

cl26464
Location:250 → 375

Atrophin-1; Atrophin-1 family

cl26511
Location:10114 → 10663

Neuromodulin_N; Gap junction protein N-terminal region

cl28434
Location:9177 → 9267

I-set; Immunoglobulin I-set domain
XM_047445660.1 → XP_047301616.1 titin isoform X2
XM_047445661.1 → XP_047301617.1 titin isoform X3
XM_017004819.1 → XP_016860308.1 titin isoform X1

UniProtKB/TrEMBL

C0JYZ2
XM_024453100.2 → XP_024308868.1 titin isoform X15

Conserved Domains (13) summary

cd05747
Location:22709 → 22800

Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains

smart00060
Location:5649 → 5733

FN3; Fibronectin type 3 domain

smart00409
Location:2622 → 2686

IG; Immunoglobulin

smart00410
Location:1371 → 1441

IG_like; Immunoglobulin like

cd00063
Location:15053 → 15145

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:20684 → 20771

I-set; Immunoglobulin I-set domain

cd14104
Location:21401 → 21677

STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin

pfam02818
Location:734 → 760

PPAK; PPAK motif

cd05748
Location:10150 → 10223

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains

cl11960
Location:13793 → 13866

Ig; Immunoglobulin domain

cl25526
Location:723 → 813

TonB_N; TonB N-terminal region

cl26464
Location:40 → 488

Atrophin-1; Atrophin-1 family

cl28434
Location:1814 → 1897

I-set; Immunoglobulin I-set domain