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INVS inversin [ Homo sapiens (human) ]

Gene ID: 27130, updated on 4-May-2020

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

Genomic context

See INVS in Genome Data Viewer
Location:
9q31.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (100099185..100302175)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (102861467..103063908)

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
Infantile nephronophthisis
MedGen: C1865872 OMIM: 602088 GeneReviews: Nephronophthisis
Compare labs

NHGRI GWAS Catalog

Description
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.
NHGRI GWA Catalog

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
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to ciliary inversin compartment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
ciliary inversin compartment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
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)

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_001318381.1NP_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_001318382.1NP_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_134606.1 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.

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
    100099185..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.
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