Format

Send to:

Choose Destination

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

Gene ID: 126326, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000167425
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

Genomic context

See GIPC3 in Genome Data Viewer
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (3585531..3593541)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3585557..3593539)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 71 Neighboring gene major facilitator superfamily domain containing 12 Neighboring gene high mobility group 20B Neighboring gene thromboxane A2 receptor Neighboring gene CACTIN antisense RNA 1 Neighboring gene cactin, spliceosome C complex subunit

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40925, DKFZp686J1198

General protein information

Preferred Names
PDZ domain-containing protein GIPC3

NCBI Reference Sequences (RefSeq)

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
    5001..12971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_133261.2NP_573568.1  PDZ domain-containing protein GIPC3

    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
    Q8TF64
    Related
    ENSP00000493901.1, OTTHUMP00000235917, ENST00000644452.1, OTTHUMT00000394577
    Conserved Domains (1) summary
    cd00992
    Location:110183
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    3585531..3593541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259492.3XP_005259549.1  PDZ domain-containing protein GIPC3 isoform X1

    Related
    ENSP00000495068.1, ENST00000644946.1
    Conserved Domains (1) summary
    cd00992
    Location:110183
    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) ...
Support Center