Format

Send to:

Choose Destination
    • Showing Current items.

    INVS inversin [ Homo sapiens (human) ]

    Gene ID: 27130, updated on 9-Jul-2021

    Summary

    Official Symbol
    INVSprovided by HGNC
    Official Full Name
    inversinprovided by HGNC
    Primary source
    HGNC:HGNC:17870
    See related
    Ensembl:ENSG00000119509 MIM:243305
    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
    INV; NPH2; NPHP2
    Summary
    This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in ovary (RPKM 5.9), kidney (RPKM 5.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See INVS in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (100099243..100302175)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (102861525..103064457)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376176 Neighboring gene endoplasmic reticulum protein 44 Neighboring gene UPF3A pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 75, pseudogene Neighboring gene ribosomal protein S2 pseudogene 35 Neighboring gene Nanog homeobox pseudogene 5 Neighboring gene uncharacterized LOC105376177 Neighboring gene testis expressed 10 Neighboring gene MSANTD3-TMEFF1 readthrough Neighboring gene Myb/SANT DNA binding domain containing 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    GeneReviews: Not available
    Infantile nephronophthisis
    MedGen: C1865872 OMIM: 602088 GeneReviews: Nephronophthisis
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0573, MGC133080, MGC133081

    Gene Ontology Provided by GOA

    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
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to ciliary inversin compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in ciliary inversin compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm 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
     
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    inversin
    Names
    inversion of embryo turning homolog
    inversion of embryonic turning
    nephrocystin-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_008316.1 RefSeqGene

      Range
      5015..207947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318381.2NP_001305310.1  inversin isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AL445214, BC063847, BC112351, DB217652
      UniProtKB/TrEMBL
      Q2M1I4
      Conserved Domains (4) summary
      cd00204
      Location:288413
      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:331421
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:89144
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:260291
      ANK; ANK repeat [structural motif]
    2. NM_001318382.2NP_001305311.1  inversin isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AK312795, AL445214, BC063847, DB217652
      Conserved Domains (6) summary
      cd00204
      Location:58183
      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 ...
      pfam00023
      Location:3061
      Ank; Ankyrin repeat
      pfam05750
      Location:364520
      Rubella_Capsid; Rubella capsid protein
      pfam12796
      Location:101191
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:151
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:3061
      ANK; ANK repeat [structural motif]
    3. NM_014425.5NP_055240.2  inversin isoform a

      See identical proteins and their annotated locations for NP_055240.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL356798, AL445214, BC063847, BC111761, DB217652
      Consensus CDS
      CCDS6746.1
      UniProtKB/Swiss-Prot
      Q9Y283
      UniProtKB/TrEMBL
      A0A024R153
      Related
      ENSP00000262457.2, ENST00000262457.7
      Conserved Domains (4) summary
      cd00204
      Location:384509
      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:427517
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:185240
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:356387
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_134606.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in an internal exon, 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)
      AL445214, BC063847, BC112351, DB217652

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      100099243..100302175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_183245.2: Suppressed sequence

      Description
      NM_183245.2: This RefSeq was removed because currently there is insufficient support for the transcript.
    Support Center