GIPC3
PDZ domain-containing protein GIPC3
Also known as: C19orf64, DFNB15, DFNB72, DFNB95, GIPC3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TF64
- Gene
- GIPC3
- Ensembl
- ENSG00000179855
- Chromosome
- 19
- Canonical length
- 312 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies,Golgi apparatus
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
312 residues, UniProt reviewed canonical sequence.
>Q8TF64|GIPC3
1 MEGAAAREAR GTETPRASAP PPAPSEPPAA PRARPRLVFR TQLAHGSPTG KIEGFTNVRE
61 LYAKIAEAFG IAPTEILFCT LNSHKVDMQK LLGGQIGLED FIFAHVRGET KEVEVTKTED
121 ALGLTITDNG AGYAFIKRIK EGSIINRIEA VCVGDSIEAI NDHSIVGCRH YEVAKMLREL
181 PKSQPFTLRL VQPKRAFDMI GQRSRSSKCP VEAKVTSGRE TLRLRSGGAA TVEEAPSEFE
241 EEASRKVDDL LESYMGIRDP ELASTMVETS KKTASAQEFA RCLDSVLGEF AFPDEFVVEV
301 WAAIGEAREA CGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GIPC3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- retina: 16 nTPM
- smooth muscle: 7.7 nTPM
- esophagus: 4.9 nTPM
- adipose tissue: 4.3 nTPM
- small intestine: 4.3 nTPM
- heart muscle: 3.9 nTPM
Single-cell type
- megakaryocytes: 25 nCPM
- platelets: 20 nCPM
- megakaryocyte progenitors: 18 nCPM
- hepatic stellate cells: 13 nCPM
- rod photoreceptor cells: 9.1 nCPM
- vascular endothelial cells: 6.8 nCPM
Immune cell
- gdT-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 2.2 nTPM
- medulla oblongata: 2.1 nTPM
- pons: 2.1 nTPM
- cerebral cortex: 1.7 nTPM
- spinal cord: 1.7 nTPM
- amygdala: 1.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GIPC3.
Disease | AllUniProt
Conditions GIPC3 is implicated in, by any mechanism.
- Deafness, autosomal recessive, 15 (DFNB15) MIM:601869
Disease | GeneticClinVar
28 pathogenic / likely-pathogenic of 273 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive nonsyndromic hearing loss 15
- Rare genetic deafness
- Sensorineural hearing loss disorder
- Hearing loss, autosomal recessive
- GIPC3-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.93
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.18
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GIPC3 as an antibody target. Whether an autoantibody or antibody against GIPC3 could matter depends on whether native GIPC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GIPC3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GIPC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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