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

Gene ID: 126326, updated on 2-Nov-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: 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. 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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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
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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

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.

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