GeneID: 307
Names
| Common Name: | TGFA-ADD2 | Type: | Intergenic Region |
|---|---|---|---|
| Chromosome: | 2 (NC_000002.12) | Locus: | N/A |
| HUGO Symbol: | TGFA-ADD2 | Full Name: | N/A |
| Exons: | N/A | Introns: | N/A |
Description:
TGFA (transforming growth factor alpha) encodes a ligand for the epidermal growth factor receptor, which activates a signalling pathway for cell proliferation, differentiation and development. ADD2 (adducin 2) belongs to a family of membrane cytoskleleton-associated proteins that promote the assembly of the spectrin-actin network. Adducins are involved in signal transduction in various cellular functions upon regulation by protein kinase C-dependent and calcium/calmodulin-dependent pathways. Adducin 2 is expressed during early erythropoiesis and at sites of cell-cell contact in epithelial tissues. Genetic variance in the TGFA-ADD2 intergenic region associated with painful episodes in patients with sickle cell disease.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006
- Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013
- Kiang KM, Leung GK, A Review on Adducin from Functional to Pathological Mechanisms: Future Direction in Cancer., Biomed Res Int, 2018(0), 3465929, 2018