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    invs inversin [ Danio rerio (zebrafish) ]

    Gene ID: 245946, updated on 2-Nov-2024

    Summary

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    Official Symbol
    invsprovided by ZNC
    Official Full Name
    inversinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-020507-2
    See related
    Ensembl:ENSDARG00000002213 AllianceGenome:ZFIN:ZDB-GENE-020507-2
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    wu:fe47e11
    Summary
    Predicted to enable calmodulin binding activity. Acts upstream of or within several processes, including cloaca development; morphogenesis of an epithelium; and opsin transport. Located in cilium. Used to study ciliopathy. Human ortholog(s) of this gene implicated in hypertension and nephronophthisis 2. Orthologous to human INVS (inversin). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See invs in Genome Data Viewer
    Location:
    chromosome: 16
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 16 NC_007127.7 (27442539..27502697)
    105 previous assembly GRCz10 (GCF_000002035.5) 16 NC_007127.6 (27507923..27568341)

    Chromosome 16 - NC_007127.7Genomic Context describing neighboring genes Neighboring gene syntaxin 17 Neighboring gene endoplasmic reticulum protein 44 Neighboring gene uncharacterized LOC137487909 Neighboring gene testis expressed 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Inversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation. Wang H, et al. Biochem Biophys Res Commun, 2023 Sep 17. PMID 37352572
    2. The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. Fukui H, et al. FEBS Lett, 2012 Jul 30. PMID 22687244
    3. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Simons M, et al. Nat Genet, 2005 May. PMID 15852005, Free PMC Article
    4. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Otto EA, et al. Nat Genet, 2003 Aug. PMID 12872123, Free PMC Article
    5. Nephrocystin-3 is required for ciliary function in zebrafish embryos. Zhou W, et al. Am J Physiol Renal Physiol, 2010 Jul. PMID 20462968, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation.
      Title: Inversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation.
    2. 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.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within body morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cloaca development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within convergent extension involved in gastrulation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of planar polarity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within heart looping IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within opsin transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within opsin transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within pronephros formation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within pronephros morphogenesis IGI
    Inferred from Genetic Interaction
    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 cilium 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
    		  

    General protein information

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    Preferred Names
    inversin

    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_152970.1 → NP_694502.1  inversin

      See identical proteins and their annotated locations for NP_694502.1

      Status: PROVISIONAL

      Source sequence(s)
      AF465261
      UniProtKB/Swiss-Prot
      Q8UVC1
      Related
      ENSDARP00000014904.8, ENSDART00000015688.10
      Conserved Domains (4) summary
      cd00204
      Location:377 → 502
      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:420 → 509
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:482 → 537
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:415 → 446
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007127.7 Reference GRCz11 Primary Assembly

      Range
      27442539..27502697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005158039.5 → XP_005158096.1  inversin isoform X1

      UniProtKB/TrEMBL
      A0A8M2B4V4
      Conserved Domains (5) summary
      cd00204
      Location:378 → 503
      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 ...
      pfam12446
      Location:722 → 836
      DUF3682; Protein of unknown function (DUF3682)
      pfam12796
      Location:421 → 510
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:483 → 538
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:416 → 447
      ANK; ANK repeat [structural motif]

    2. XM_068213882.1 → XP_068069983.1  inversin isoform X2

      Related
      ENSDARP00000133199.2, ENSDART00000157690.2
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8UVC1.1 GenPept UniProtKB/Swiss-Prot:Q8UVC1

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