GeneID: 361


Common Name: TRPC3-KIAA1109 Type: Intergenic Region
Chromosome: 4 (NC_000004.12) Locus: N/A
HUGO Symbol: N/A Full Name: N/A
Exons: N/A Introns: N/A

TRPC3 (transient receptor potential cation channel subfamily C member 3) encodes a membrane protein that can form a non-selective channel permeable to calcium and other cations. Probably induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. TRPC3 is expressed in small and medium diameter sensory neurons and is functionally coupled to several inflammatory transductions, including UTP/P2Y2 and proteases/PAR2 signaling complexes. KIAA1109 is mapped in the genomic region associated with susceptibility to celiac disease. It has been associated with neurological malformations and is thought to function in the regulation of epithelial growth and differentiation, as well as synaptic vesicle recycling. A variant located in the TRPC3-KIAA1109 intergenic region has been linked to acute, severe vaso-occlusive pain in children with sickle cell anaemia.

Synonyms: N/A


External Links

Sequence Viewer

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Publications / Origin

  1. Alkhani H, Ase AR, Grant R, O'Donnell D, Groschner K, Séguéla P, Contribution of TRPC3 to store-operated calcium entry and inflammatory transductions in primary nociceptors., Mol Pain, 10(0), 43, 2014 PubMed
  2. Chaturvedi S, Bhatnagar P, Bean CJ, Steinberg MH, Milton JN, Casella JF, Barron-Casella E, Arking DE, DeBaun MR, Genome-wide association study to identify variants associated with acute severe vaso-occlusive pain in sickle cell anemia., Blood, 130(5), 686-688, 2017 PubMed
  3. Kane MS, Diamonstein CJ, Hauser N, Deeken JF, Niederhuber JE, Vilboux T, Endosomal trafficking defects in patient cells with biallelic variants., Genes Dis, 6(1), 56-67, 2019 PubMed
Created on 2020-03-25 15:42:54, Last reviewed on 2020-03-25 15:51:35 (Show full history)

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