Terf2 telomeric repeat binding factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Terf2provided by MGI
Official Full Name: telomeric repeat binding factor 2provided by MGI
Primary source: MGI:MGI:1195972
See related: Ensembl:ENSMUSG00000031921 AllianceGenome:MGI:1195972
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TRF2
Summary: Enables double-stranded telomeric DNA binding activity and protein homodimerization activity. Involved in anterograde axonal transport; negative regulation of telomere maintenance via recombination; and telomeric loop formation. Acts upstream of or within in utero embryonic development; positive regulation of telomere maintenance; and protection from non-homologous end joining at telomere. Located in chromosome, telomeric region and male germ cell nucleus. Is expressed in cerebral cortex and cortical plate. Used to study xeroderma pigmentosum. Orthologous to human TERF2 (telomeric repeat binding factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E14 (RPKM 8.7), CNS E11.5 (RPKM 7.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 D3; 8 53.59 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (107796032..107823180, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (107069400..107096548, complement)

Chromosome 8 - NC_000074.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TIN2 is an architectural protein that facilitates TRF2-mediated trans- and cis-interactions on telomeric DNA.
Title: TIN2 is an architectural protein that facilitates TRF2-mediated trans- and cis-interactions on telomeric DNA.
Molecular Consequences of Depression Treatment: A Potential In Vitro Mechanism for Antidepressants-Induced Reprotoxic Side Effects.
Title: Molecular Consequences of Depression Treatment: A Potential In Vitro Mechanism for Antidepressants-Induced Reprotoxic Side Effects.
Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.
Title: Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.
TRF2-mediated telomere protection is dispensable in pluripotent stem cells.
Title: TRF2-mediated telomere protection is dispensable in pluripotent stem cells.
TRF2-independent chromosome end protection during pluripotency.
Title: TRF2-independent chromosome end protection during pluripotency.
klotho serves as a part of the cellular defense mechanism engaged in the protection of neurons against amitriptyline-mediated toxicity.
Title: Klotho-Mediated Changes in Shelterin Complex Promote Cytotoxic Autophagy and Apoptosis in Amitriptyline-Treated Hippocampal Neuronal Cells.
Trf2 deletion leads to telomere uncapping, increased senescence signaling, and oxidative stress mediated functional impairments in the vasculature.
Title: Induced Trf2 deletion leads to aging vascular phenotype in mice associated with arterial telomere uncapping, senescence signaling, and oxidative stress.
Mammary glands lacking TRF2 expression exhibited increased telomere DNA damage response, histopathological and functional degeneration, and prominent ductal fibrosis. TRF2-deficient mammary tumors exhibited rapid onset and increased proliferation.
Title: Molecular and cellular basis of mammary gland fibrosis and cancer risk.
This review focuses on the current knowledge of shelterin-mediated telomere protection, highlights differences between human and mouse shelterin, and discusses some of the questions that remain
Title: Shelterin-Mediated Telomere Protection.
It plays a role in hematopoietic stem cell regulation and in the maintenance of the HSC pool and the development of hematological disorders.
Title: The role of telomere binding molecules for normal and abnormal hematopoiesis.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF003000 (e-PCR)
- UniSTS:159809

BB243824 (e-PCR)
- UniSTS:208324

Terf2 (e-PCR), detects polymorphism
- UniSTS:144605

RH124438 (e-PCR)
- UniSTS:161260

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables G-rich strand telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-rich strand telomeric DNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded telomeric DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables double-stranded telomeric DNA binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
contributes_to telomerase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to telomerase activity	ISO Inferred from Sequence Orthology more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonal transport of messenger ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of beta-galactosidase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of exonuclease activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of t-circle formation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere capping	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance via recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomere maintenance via recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via recombination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance via telomerase	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance via telomere lengthening	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomeric D-loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomeric D-loop disassembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of nitric-oxide synthase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in protection from non-homologous end joining at telomere	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protection from non-homologous end joining at telomere	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protection from non-homologous end joining at telomere	ISO Inferred from Sequence Orthology more info
involved_in protein localization to chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
involved_in regulation of telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in regulation of telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of telomere maintenance via telomerase	ISO Inferred from Sequence Orthology more info
involved_in telomere capping	ISO Inferred from Sequence Orthology more info
acts_upstream_of telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomeric D-loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomeric D-loop disassembly	ISO Inferred from Sequence Orthology more info
involved_in telomeric loop formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomeric loop formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomeric loop formation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
is_active_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	ISO Inferred from Sequence Orthology more info
part_of nuclear telomere cap complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of shelterin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of shelterin complex	ISO Inferred from Sequence Orthology more info
part_of telomere cap complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: telomeric repeat-binding factor 2

Names: TTAGGG repeat-binding factor 2; telomeric DNA-binding protein

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.

mRNA and Protein(s)

NM_001083118.2 → NP_001076587.1 telomeric repeat-binding factor 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK049507, BF658936

Consensus CDS

CCDS52666.1

UniProtKB/Swiss-Prot

O35144

Related

ENSMUSP00000112126.3, ENSMUST00000116425.3

Conserved Domains (2) summary

cd11654
Location:319 → 359

TRF2_RBM; RAP1 binding motif of telomere repeat binding factor

cd00280
Location:90 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
NM_001286200.1 → NP_001273129.1 telomeric repeat-binding factor 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site and contains an alternate exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AK049507, AK089419, AK160421

Consensus CDS

CCDS72167.1

UniProtKB/TrEMBL

E9QM06

Related

ENSMUSP00000065586.9, ENSMUST00000068388.15

Conserved Domains (4) summary

smart00717
Location:423 → 472

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11654
Location:318 → 356

TRF2_RBM; RAP1 binding motif of telomere repeat binding factor

cd11660
Location:424 → 472

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:90 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
NM_001371065.1 → NP_001357994.1 telomeric repeat-binding factor 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).

Source sequence(s)

AC123868

Consensus CDS

CCDS90457.1

UniProtKB/Swiss-Prot

D3YVG5, O35144, Q80VE2, Q8BQJ9

Related

ENSMUSP00000068948.7, ENSMUST00000068421.13

Conserved Domains (3) summary

cd11654
Location:319 → 359

TRF2_RBM; RAP1 binding motif of telomere repeat binding factor

cd11660
Location:489 → 537

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:90 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
NM_001371066.1 → NP_001357995.1 telomeric repeat-binding factor 2 isoform 6

Status: VALIDATED

Source sequence(s)

AC123868

Conserved Domains (2) summary

cd11654
Location:318 → 358

TRF2_RBM; RAP1 binding motif of telomere repeat binding factor

cd00280
Location:90 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
NM_001371067.1 → NP_001357996.1 telomeric repeat-binding factor 2 isoform 7

Status: VALIDATED

Source sequence(s)

AC123868

Conserved Domains (2) summary

cd11654
Location:318 → 358

TRF2_RBM; RAP1 binding motif of telomere repeat binding factor

cd00280
Location:90 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
NM_001413758.1 → NP_001400687.1 telomeric repeat-binding factor 2 isoform 8

Status: VALIDATED

Source sequence(s)

AC123868
NM_001413759.1 → NP_001400688.1 telomeric repeat-binding factor 2 isoform 9

Status: VALIDATED

Source sequence(s)

AC123868
NM_009353.2 → NP_033379.2 telomeric repeat-binding factor 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC123868

Consensus CDS

CCDS22646.2

UniProtKB/TrEMBL

D3YZ08

Related

ENSMUSP00000118759.2, ENSMUST00000133925.8

Conserved Domains (4) summary

smart00717
Location:487 → 536

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11654
Location:318 → 358

TRF2_RBM; RAP1 binding motif of telomere repeat binding factor

cd11660
Location:488 → 536

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:90 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...

RNA

NR_104410.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK049507, AK160421

Related

ENSMUST00000142616.8
NR_182211.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC123868