Gene: ITK

Alternate names for this Gene: EMT|LPFS1|LYK|PSCTK2

Gene Summary: This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.3

Description of this Gene: IL2 inducible T cell kinase

Type of Gene: protein-coding

Gene: MED7

Alternate names for this Gene: ARC34|CRSP33|CRSP9

Gene Summary: The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.3

Description of this Gene: mediator complex subunit 7

Type of Gene: protein-coding

rs13360007 in ITK;MED7 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.