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    GIPC3 GIPC PDZ domain containing family member 3 [ Homo sapiens (human) ]

    Gene ID: 126326, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GIPC3provided by HGNC
    Official Full Name
    GIPC PDZ domain containing family member 3provided by HGNC
    Primary source
    HGNC:HGNC:18183
    See related
    Ensembl:ENSG00000179855 MIM:608792; AllianceGenome:HGNC:18183
    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
    DFNB15; DFNB72; DFNB95; C19orf64
    Summary
    The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in esophagus (RPKM 3.1), fat (RPKM 3.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GIPC3 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3585478..3593541)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3563635..3571724)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3585476..3593539)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3539157-3540009 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3540539 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3542983 Neighboring gene tektin bundle interacting protein 1 Neighboring gene major facilitator superfamily domain containing 12 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3550926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9850 Neighboring gene Sharpr-MPRA regulatory region 8051 Neighboring gene uncharacterized LOC124904618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3571588-3572156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3572157-3572724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9853 Neighboring gene high mobility group 20B Neighboring gene thromboxane A2 receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3605850-3606424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3606998-3607571 Neighboring gene CACTIN antisense RNA 1 Neighboring gene cactin, spliceosome C complex subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population. Petrova NV, et al. Genes (Basel), 2021 May 27. PMID 34071867, Free PMC Article
    2. New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. Chen A, et al. Am J Med Genet, 1997 Sep 5. PMID 9286457
    3. Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2. Saitoh T, et al. Int J Oncol, 2002 Mar. PMID 11836571
    4. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Ain Q, et al. Hum Genet, 2007 Dec. PMID 17690910
    5. [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15]. Bönsch D, et al. HNO, 2008 Feb. PMID 18066515

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
      Title: Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
    2. Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India.
      Title: Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India.
    3. This study is the first report of the contribution of theGIPC3 gene to hearing loss in the Iranian population
      Title: A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.
    4. This study expands the mutational spectrum of GIPC3 in autosomal recessive nonsyndromic hearing impairment.
      Title: A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
    5. This study identified a novel causative mutation in GIPC3 for congenital nonsyndromic hearing loss in a consanguineous family from Saudi Arabia.
      Title: Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.
    6. A maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15.
      Title: [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].
    7. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes.
      Title: Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
    8. Gipc3 plays a pivotal role in acoustic signal acquisition and propagation in cochlear hair cells, while mutations are associated with audiogenic seizures and sensorineural hearing loss.
      Title: Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
    9. DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p.
      Title: The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    Autosomal recessive nonsyndromic hearing loss 15
    MedGen: C1866094 OMIM: 601869 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40925, DKFZp686J1198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PDZ domain-containing protein GIPC3

    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_031943.1 RefSeqGene

      Range
      4908..12971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001411144.1 → NP_001398073.1  PDZ domain-containing protein GIPC3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC116968
      Consensus CDS
      CCDS92487.1
      UniProtKB/TrEMBL
      A0A2R8Y651
      Related
      ENSP00000495068.1, ENST00000644946.1

    2. NM_133261.3 → NP_573568.1  PDZ domain-containing protein GIPC3 isoform 1

      See identical proteins and their annotated locations for NP_573568.1

      Status: REVIEWED

      Source sequence(s)
      AB073738, AC116968
      Consensus CDS
      CCDS32871.1
      UniProtKB/Swiss-Prot
      O75227, Q8TF64
      Related
      ENSP00000493901.2, ENST00000644452.3
      Conserved Domains (1) summary
      cd00992
      Location:110 → 183
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3585478..3593541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3563635..3571724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319804.1 → XP_054175779.1  PDZ domain-containing protein GIPC3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF64.1 GenPept UniProtKB/Swiss-Prot:Q8TF64

    Gene LinkOut

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

    Chemical Information
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