Entity Details

Primary name PITPNM3
Entity type gene
Source Source Link

Details

PrimaryID83394
RefseqGeneNG_016020
SymbolPITPNM3
NamePITPNM family member 3
Chromosome17
Location17p13.2-p13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-04-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPITM3_HUMAN

GO terms

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GOName
GO:0004620 phospholipase activity
GO:0005509 calcium ion binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008289 lipid binding
GO:0012505 endomembrane system
GO:0016020 membrane
GO:0030134 COPII-coated ER to Golgi transport vesicle
GO:0030971 receptor tyrosine kinase binding
GO:0042995 cell projection
GO:0044297 cell body

Diseases

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Disease IDSourceNameDescription
600977 OMIMCone-rod dystrophy 5 (CORD5)An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions