| TAGAP | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TAGAP, ARHGAP47, IDDM21, TAGAP1, FKSG15, T-cell activation RhoGTPase activating protein, T cell activation RhoGTPase activating protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609667 MGI: 3615484 HomoloGene: 44943 GeneCards: TAGAP | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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T-cell activation RhoGTPase activating protein is a protein that in humans is encoded by the TAGAP gene. [5]
Function
This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000164691 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033450 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: T-cell activation RhoGTPase activating protein". Retrieved 2017-09-10.
Further reading
- Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M, Romanos J, Dinesen LC, Ryan AW, Panesar D, Gwilliam R, Takeuchi F, McLaren WM, Holmes GK, Howdle PD, Walters JR, Sanders DS, Playford RJ, Trynka G, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, O'Morain C, Kennedy NP, Kelleher D, Pennington DJ, Strachan DP, McArdle WL, Mein CA, Wapenaar MC, Deloukas P, McGinnis R, McManus R, Wijmenga C, van Heel DA (2008). "Newly identified genetic risk variants for celiac disease related to the immune response". Nat. Genet. 40 (4): 395–402. doi:10.1038/ng.102. PMC 2673512. PMID 18311140.
- Romanos J, Barisani D, Trynka G, Zhernakova A, Bardella MT, Wijmenga C (2009). "Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease". J. Med. Genet. 46 (1): 60–3. doi:10.1136/jmg.2008.061457. PMID 18805825. S2CID 23164552.
- Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA (2008). "Shared and distinct genetic variants in type 1 diabetes and celiac disease". N. Engl. J. Med. 359 (26): 2767–77. doi:10.1056/NEJMoa0807917. PMC 2840835. PMID 19073967.
- Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C (2009). "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling". Gut. 58 (8): 1078–83. doi:10.1136/gut.2008.169052. PMID 19240061. S2CID 17111427.
- Amundsen SS, Rundberg J, Adamovic S, Gudjónsdóttir AH, Ascher H, Ek J, Nilsson S, Lie BA, Naluai AT, Sollid LM (2010). "Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort". Genes Immun. 11 (1): 79–86. doi:10.1038/gene.2009.67. PMID 19693089.
- Raychaudhuri S, Thomson BP, Remmers EF, Eyre S, Hinks A, Guiducci C, Catanese JJ, Xie G, Stahl EA, Chen R, Alfredsson L, Amos CI, Ardlie KG, Barton A, Bowes J, Burtt NP, Chang M, Coblyn J, Costenbader KH, Criswell LA, Crusius JB, Cui J, De Jager PL, Ding B, Emery P, Flynn E, Harrison P, Hocking LJ, Huizinga TW, Kastner DL, Ke X, Kurreeman FA, Lee AT, Liu X, Li Y, Martin P, Morgan AW, Padyukov L, Reid DM, Seielstad M, Seldin MF, Shadick NA, Steer S, Tak PP, Thomson W, van der Helm-van Mil AH, van der Horst-Bruinsma IE, Weinblatt ME, Wilson AG, Wolbink GJ, Wordsworth P, Altshuler D, Karlson EW, Toes RE, de Vries N, Begovich AB, Siminovitch KA, Worthington J, Klareskog L, Gregersen PK, Daly MJ, Plenge RM (2009). "Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk". Nat. Genet. 41 (12): 1313–8. doi:10.1038/ng.479. PMC 3142887. PMID 19898481.
- Hinks A, Martin P, Flynn E, Eyre S, Packham J, Barton A, Worthington J, Thomson W (2010). "Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis". Ann. Rheum. Dis. 69 (12): 2169–72. doi:10.1136/ard.2009.126938. PMC 3002762. PMID 20647273.
- Eyre S, Hinks A, Bowes J, Flynn E, Martin P, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J, Barton A (2010). "Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease". Arthritis Res. Ther. 12 (5): R175. doi:10.1186/ar3139. PMC 2991006. PMID 20854658.
- Eyre S, Hinks A, Bowes J, Flynn E, Martin P, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J, Barton A (2010). "Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease". Arthritis Res. Ther. 12 (5): R175. doi:10.1186/ar3139. PMC 2991006. PMID 20854658.
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