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INVS inversin [ Homo sapiens (human) ]

Gene ID: 27130, updated on 5-Mar-2024

Summary

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Official Symbol
INVSprovided by HGNC
Official Full Name
inversinprovided by HGNC
Primary source
HGNC:HGNC:17870
See related
Ensembl:ENSG00000119509 MIM:243305; AllianceGenome:HGNC:17870
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
mouse all
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Genomic context

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Location:
9q31.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (100099243..100302175)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (112270863..112473811)
105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 28717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20132 Neighboring gene RNA, 7SL, cytoplasmic 75, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:102902488-102903061 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:102908301-102908959 Neighboring gene DPPA3 pseudogene 10 Neighboring gene ribosomal protein S2 pseudogene 35 Neighboring gene Sharpr-MPRA regulatory region 13033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28722 Neighboring gene Nanog homeobox pseudogene 5 Neighboring gene uncharacterized LOC124902235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103046218-103046718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103046719-103047219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103103415-103103914 Neighboring gene uncharacterized LOC105376177 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103114917-103115551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28723 Neighboring gene testis expressed 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:103131616-103131808 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:103155294-103155664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20134 Neighboring gene MSANTD3-TMEFF1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20137 Neighboring gene Myb/SANT DNA binding domain containing 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. [Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2]. Wu Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2020 May 10. PMID 32335886
  2. Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy. Bennett HW, et al. Mol Biol Cell, 2020 Mar 19. PMID 31895004, Free PMC Article
  3. Inversin correlates with the malignant phenotype of non-small cell lung cancer and promotes the invasiveness of lung cancer cells. Jiang GY, et al. Tumour Biol, 2017 Jun. PMID 28618971
  4. A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. Bellavia S, et al. Nephrol Dial Transplant, 2010 Dec. PMID 20798123
  5. Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. Okada M, et al. Clin Nephrol, 2008 Feb. PMID 18218308

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy.
    Title: Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy.
  2. fetus diagnosed with type II nephronophthisis had a heterozygous c.100+1G>A variant and deletion of exon 3 of the INVS gene
    Title: [Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2].
  3. Inversin required for ciliary translocation of Smo and activation of the Shh pathway; Shh signaling promotes inversin phosphorylation by PKA and inversin-Smo interaction
    Title: Patched1-ArhGAP36-PKA-Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation.
  4. Collectively, these results indicated that inversin might promote the tumorigenicity of lung cancer cells and serve as a novel therapeutic target of non-small cell lung cancer.
    Title: Inversin correlates with the malignant phenotype of non-small cell lung cancer and promotes the invasiveness of lung cancer cells.
  5. Akt phosphorylates inversin at amino acids 864-866 that are required not only for Akt interaction, but also for inversin dimerization.
    Title: Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia.
  6. Truncating mutations in NPHP2 gene is associated with nephronophthisis-related ciliopathy.
    Title: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
  7. ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
    Title: ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
  8. INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
    Title: A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
  10. screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations
    Title: Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Infantile nephronophthisis
MedGen: C1865872 OMIM: 602088 GeneReviews: Nephronophthisis-Related Ciliopathies
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EBI 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.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • 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
  
Component Evidence Code Pubs
is_active_in ciliary inversin compartment IBA
Inferred from Biological aspect of Ancestor
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

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Preferred Names
inversin
Names
inversion of embryo turning homolog
inversion of embryonic turning
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.

Genomic

  1. NG_008316.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001318381.2 → NP_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
    B4E3S8
    Conserved Domains (4) summary
    cd00204
    Location:288 → 413
    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:331 → 421
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:89 → 144
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:260 → 291
    ANK; ANK repeat [structural motif]

  2. NM_001318382.2 → NP_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:58 → 183
    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:30 → 61
    Ank; Ankyrin repeat
    pfam05750
    Location:364 → 520
    Rubella_Capsid; Rubella capsid protein
    pfam12796
    Location:101 → 191
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:1 → 51
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:30 → 61
    ANK; ANK repeat [structural motif]

  3. NM_014425.5 → NP_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
    A2A2Y2, Q2NKL0, Q5W0T6, Q8IVX8, Q9BRB9, Q9Y283, Q9Y488, Q9Y498
    UniProtKB/TrEMBL
    B4E3S8
    Related
    ENSP00000262457.2, ENST00000262457.7
    Conserved Domains (4) 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)
    sd00045
    Location:356 → 387
    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: 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

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    112270863..112473811
    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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y283.2 GenPept UniProtKB/Swiss-Prot:Q9Y283

Gene LinkOut

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