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    INVS inversin [ Homo sapiens (human) ]

    Gene ID: 27130, updated on 2-Nov-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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    See INVS in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (100099243..100302175)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (112270863..112473811)
    RS_2024_09 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 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. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Haider NB, et al. Am J Hum Genet, 1998 Nov. PMID 9792867, Free PMC Article
    2. 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
    3. 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
    4. Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. Assadi F. Pediatr Nephrol, 2007 May. PMID 17216245
    5. Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. Gilling M, et al. Am J Hum Genet, 2006 May. PMID 16642442, Free PMC Article

    See all (48) 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
    		Compare labs

    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 kidney development IBA
    Inferred from Biological aspect of Ancestor
    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 cilium 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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