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

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; 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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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].
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.
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.
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.
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

NoName (e-PCR)
- UniSTS:481036

NoName (e-PCR)
- UniSTS:485956

NoName (e-PCR)
- UniSTS:482127

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

NG_031943.1 RefSeqGene

Range

4908..12971

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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) ...