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GeneQ18049724· pop 5· linked from 4 articles

Also known as C19orf64, DFNB15, DFNB72, DFNB95, GIPC PDZ domain containing family member 3

PDZ domain-containing protein GIPC3 is a protein that in humans is encoded by the GIPC3 gene. GIPC3 is a member of the GIPC (GAIP-interacting protein C terminus) gene family that also includes GIPC1 and GIPC2. The encoded protein, GIPC3, features a centrally located PDZ domain, which is flanked on each side by a single GIPC-homology domain.

Gene data

GIPC3
Name
GIPC PDZ domain containing family member 3
Type
protein-coding
Position
3,585,474–3,593,541 (+)
Aliases
C19orf64, DFNB15, DFNB72, DFNB95
RefSeq RNA
NM_001411144.1, NM_133261.3, XM_054319804.1
RefSeq protein
NP_001398073.1, NP_573568.1, XP_054175779.1

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].

Gene Ontology

Molecular function

via MyGene.info

Gene · Ensembl

GIPC PDZ domain containing family member 3

Symbol
GIPC3
Biotype
Protein coding
Organism
Homo sapiens
Location
19:3,585,474-3,593,541
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~3 min read

Encyclopedic overview

8 sections
Contents
  • Function
  • Gene
  • Genetics
  • Phenotypes
  • Interactions
  • See also
  • References
  • Further reading

PDZ domain-containing protein GIPC3 is a protein that in humans is encoded by the GIPC3 gene. GIPC3 is a member of the GIPC (GAIP-interacting protein C terminus) gene family that also includes GIPC1 and GIPC2. The encoded protein, GIPC3, features a centrally located PDZ domain, which is flanked on each side by a single GIPC-homology domain.

==Function== GIPC3 is thought to be important for acoustic signal acquisition and propagation in hair cells of the mammalian cochlea.

Excerpted from Wikipedia’s “GIPC3” article, available under the CC BY-SA 4.0 licence.

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