Gene: SH2D2A

Alternate names for this Gene: F2771|SCAP|TSAD|VRAP

Gene Summary: This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.1

Description of this Gene: SH2 domain containing 2A

Type of Gene: protein-coding

Gene: NTRK1

Alternate names for this Gene: MTC|TRK|TRK1|TRKA|Trk-A|p140-TrkA

Gene Summary: This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.1

Description of this Gene: neurotrophic receptor tyrosine kinase 1

Type of Gene: protein-coding

rs926103 in SH2D2A;NTRK1 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.