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Invs inversin [ Mus musculus (house mouse) ]

Gene ID: 16348, updated on 21-Apr-2024

Summary

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Official Symbol
Invsprovided by MGI
Official Full Name
inversinprovided by MGI
Primary source
MGI:MGI:1335082
See related
Ensembl:ENSMUSG00000028344 AllianceGenome:MGI:1335082
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
inv; Nphp2
Summary
Predicted to enable calmodulin binding activity. Acts upstream of or within several processes, including animal organ development; epithelial cilium movement involved in determination of left/right asymmetry; and protein localization to ciliary inversin compartment. Located in ciliary base and ciliary inversin compartment. Is expressed in several structures, including adrenal gland; brain; gut gland; hemolymphoid system; and skeletal musculature. Used to study nephronophthisis 2 and tetralogy of Fallot. Human ortholog(s) of this gene implicated in nephronophthisis 2. Orthologous to human INVS (inversin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 4.6), limb E14.5 (RPKM 4.4) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
4 B1; 4 26.11 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (48279707..48431956)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (48279707..48431956)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2691 Neighboring gene syntaxin 17 Neighboring gene STARR-seq mESC enhancer starr_10154 Neighboring gene STARR-positive B cell enhancer ABC_E6176 Neighboring gene endoplasmic reticulum protein 44 Neighboring gene microRNA 1958 Neighboring gene STARR-positive B cell enhancer ABC_E6177 Neighboring gene STARR-seq mESC enhancer starr_10155 Neighboring gene STARR-positive B cell enhancer ABC_E1644 Neighboring gene STARR-seq mESC enhancer starr_10157 Neighboring gene heterogeneous nuclear ribonucleoprotein F pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E6178 Neighboring gene testis expressed gene 10 Neighboring gene STARR-seq mESC enhancer starr_10161 Neighboring gene STARR-seq mESC enhancer starr_10162 Neighboring gene STARR-seq mESC enhancer starr_10163 Neighboring gene STARR-seq mESC enhancer starr_10164 Neighboring gene STARR-seq mESC enhancer starr_10167 Neighboring gene Myb/SANT-like DNA-binding domain containing 3 Neighboring gene transmembrane protein with EGF-like and two follistatin-like domains 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse. Li Y, et al. Elife, 2023 Mar 15. PMID 36920028, Free PMC Article
  2. Tubular cell loss in early inv/nphp2 mutant kidneys represents a possible homeostatic mechanism in cortical tubular formation. Shigeta M, et al. PLoS One, 2018. PMID 29889867, Free PMC Article
  3. Loss of inversin decreases transepithelial sodium transport in murine renal cells. Kulkarni NH, et al. Am J Physiol Cell Physiol, 2017 Dec 1. PMID 28978526
  4. Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice. Tsuji T, et al. Cytoskeleton (Hoboken), 2016 Jan. PMID 26615802
  5. The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly. Mergen M, et al. Nephrol Dial Transplant, 2013 Nov. PMID 24026243

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.
    Title: Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.
  2. Loss of inversin decreases Na(+) transport via epithelial sodium channel in kidney collecting duct cells.
    Title: Loss of inversin decreases transepithelial sodium transport in murine renal cells.
  3. We constructed sub-congenic lines to more specifically localize the modifier and have determined it resides in a 3.2 Mb interval containing 28 genes. These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8.
    Title: High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease.
  4. Ciliary abnormalities are associated with nphp2 mutant mice.
    Title: Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice.
  5. Loss of NPHP2 causes ciliogenesis defects.
    Title: The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly.
  6. the significance of Inversin in controlling cell migration processes
    Title: Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration.
  7. Nek8 acts downstream of Inv function
    Title: The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish.
  8. Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
    Title: Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
  9. Results show that the Inv protein (also known as inversin) is localized at a distinctive proximal segment of the primary cilium.
    Title: Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region.
  10. The localization of inversin in distal tubules in the kidney and in extrarenal tissues suggests that the expression of this protein has an important function in a variety of organs.
    Title: Differential tissue distribution of the Invs gene product inversin.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC141481

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within animal organ development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic heart tube left/right pattern formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of canonical Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within pancreas development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to ciliary inversin compartment IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein localization to ciliary inversin compartment IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in ciliary base IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ciliary inversin compartment IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary inversin compartment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
inversin
Names
inversion of embryo turning protein
nephrocystin 2

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)

  1. NM_001421128.1 → NP_001408057.1  inversin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL807247

  2. NM_001421129.1 → NP_001408058.1  inversin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL807247, AL954194, BX510363

  3. NM_010569.5 → NP_034699.3  inversin isoform 1

    See identical proteins and their annotated locations for NP_034699.3

    Status: VALIDATED

    Source sequence(s)
    AL807247, AL954194, BX510363
    Consensus CDS
    CCDS18166.1
    UniProtKB/Swiss-Prot
    O88849, O89019
    UniProtKB/TrEMBL
    A2AM57
    Related
    ENSMUSP00000030029.4, ENSMUST00000030029.10
    Conserved Domains (5) summary
    cd00204
    Location:384 → 509
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:427 → 517
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:185 → 240
    Ank_4; Ankyrin repeats (many copies)
    pfam15662
    Location:595 → 757
    SPATA3; Spermatogenesis-associated protein 3 family
    sd00045
    Location:356 → 387
    ANK; ANK repeat [structural motif]

RNA

  1. NR_185246.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL807247, AL954194, BX510363

  2. NR_185247.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL807247, AL954194, BX510363

  3. NR_185248.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL807247, AL954194, BX510363

  4. NR_185249.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL807247, AL954194, BX510363

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    48279707..48431956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036163736.1 → XP_036019629.1  inversin isoform X2

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (5) summary
    PHA02876
    Location:59 → 420
    PHA02876; ankyrin repeat protein; Provisional
    PHA03307
    Location:617 → 890
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0666
    Location:337 → 543
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:360 → 391
    ANK; ANK repeat [structural motif]
    cd21090
    Location:918 → 964
    C11orf65; chromosome 11 open reading frame 65 and homologs

  2. XM_006537626.4 → XP_006537689.1  inversin isoform X1

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (5) summary
    PHA02876
    Location:59 → 420
    PHA02876; ankyrin repeat protein; Provisional
    PHA03307
    Location:617 → 890
    PHA03307; transcriptional regulator ICP4; Provisional
    sd00045
    Location:360 → 391
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:18 → 68
    Ank_4; Ankyrin repeats (many copies)
    cl39094
    Location:340 → 558
    Ank_2; Ankyrin repeats (3 copies)

  3. XM_006537634.3 → XP_006537697.1  inversin isoform X10

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (6) summary
    PHA02876
    Location:59 → 420
    PHA02876; ankyrin repeat protein; Provisional
    smart00015
    Location:752 → 773
    IQ; Calmodulin-binding motif
    sd00045
    Location:360 → 391
    ANK; ANK repeat [structural motif]
    pfam09422
    Location:593 → 699
    WTX; WTX protein
    pfam13637
    Location:18 → 68
    Ank_4; Ankyrin repeats (many copies)
    cl39094
    Location:340 → 558
    Ank_2; Ankyrin repeats (3 copies)

  4. XM_006537635.3 → XP_006537698.1  inversin isoform X11

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (6) summary
    PHA02876
    Location:59 → 416
    PHA02876; ankyrin repeat protein; Provisional
    smart00015
    Location:748 → 769
    IQ; Calmodulin-binding motif
    sd00045
    Location:356 → 387
    ANK; ANK repeat [structural motif]
    pfam09422
    Location:589 → 695
    WTX; WTX protein
    pfam13637
    Location:18 → 68
    Ank_4; Ankyrin repeats (many copies)
    cl39094
    Location:336 → 554
    Ank_2; Ankyrin repeats (3 copies)

  5. XM_006537629.4 → XP_006537692.1  inversin isoform X4

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (5) summary
    PHA02876
    Location:59 → 406
    PHA02876; ankyrin repeat protein; Provisional
    PHA03307
    Location:603 → 876
    PHA03307; transcriptional regulator ICP4; Provisional
    sd00045
    Location:346 → 377
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:18 → 68
    Ank_4; Ankyrin repeats (many copies)
    cl39094
    Location:326 → 544
    Ank_2; Ankyrin repeats (3 copies)

  6. XM_006537630.5 → XP_006537693.1  inversin isoform X5

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (4) summary
    PHA03095
    Location:32 → 365
    PHA03095; ankyrin-like protein; Provisional
    PHA03307
    Location:561 → 834
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0666
    Location:281 → 487
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:304 → 335
    ANK; ANK repeat [structural motif]

  7. XM_006537632.5 → XP_006537695.1  inversin isoform X7

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (4) summary
    PHA03095
    Location:32 → 361
    PHA03095; ankyrin-like protein; Provisional
    PHA03307
    Location:557 → 830
    PHA03307; transcriptional regulator ICP4; Provisional
    sd00045
    Location:300 → 331
    ANK; ANK repeat [structural motif]
    cl39094
    Location:280 → 498
    Ank_2; Ankyrin repeats (3 copies)

  8. XM_006537631.5 → XP_006537694.1  inversin isoform X6

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (5) summary
    PHA02876
    Location:59 → 494
    PHA02876; ankyrin repeat protein; Provisional
    PHA03307
    Location:559 → 832
    PHA03307; transcriptional regulator ICP4; Provisional
    sd00045
    Location:302 → 333
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:18 → 68
    Ank_4; Ankyrin repeats (many copies)
    cl39094
    Location:282 → 500
    Ank_2; Ankyrin repeats (3 copies)

  9. XM_030253261.2 → XP_030109121.1  inversin isoform X8

    UniProtKB/Swiss-Prot
    O88849, O89019
    Conserved Domains (5) summary
    PHA02876
    Location:59 → 490
    PHA02876; ankyrin repeat protein; Provisional
    PHA03307
    Location:555 → 828
    PHA03307; transcriptional regulator ICP4; Provisional
    sd00045
    Location:298 → 329
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:18 → 68
    Ank_4; Ankyrin repeats (many copies)
    cl39094
    Location:278 → 496
    Ank_2; Ankyrin repeats (3 copies)

  10. XM_006537633.3 → XP_006537696.1  inversin isoform X9

    See identical proteins and their annotated locations for XP_006537696.1

    UniProtKB/TrEMBL
    A0JNT0
    Conserved Domains (4) summary
    PTZ00322
    Location:143 → 231
    PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
    PHA03307
    Location:521 → 794
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0666
    Location:241 → 447
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:264 → 295
    ANK; ANK repeat [structural motif]

  11. XM_011249937.4 → XP_011248239.1  inversin isoform X9

    See identical proteins and their annotated locations for XP_011248239.1

    UniProtKB/TrEMBL
    A0JNT0
    Conserved Domains (4) summary
    PTZ00322
    Location:143 → 231
    PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
    PHA03307
    Location:521 → 794
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0666
    Location:241 → 447
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:264 → 295
    ANK; ANK repeat [structural motif]

  12. XM_006537637.5 → XP_006537700.1  inversin isoform X12

    See identical proteins and their annotated locations for XP_006537700.1

    UniProtKB/TrEMBL
    Q3TYB3
    Conserved Domains (4) summary
    PHA03307
    Location:287 → 560
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0666
    Location:7 → 213
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:30 → 61
    ANK; ANK repeat [structural motif]
    cd21090
    Location:588 → 634
    C11orf65; chromosome 11 open reading frame 65 and homologs

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001281977.1: Suppressed sequence

    Description
    NM_001281977.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_001281978.1: Suppressed sequence

    Description
    NM_001281978.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O89019.2 GenPept UniProtKB/Swiss-Prot:O89019

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