GeneID: 239



Names

Common Name: ARHGAP18 Type: Gene
Chromosome: 6 (NC_000006.12) Locus: N/A
HUGO Symbol: ARHGAP18 Full Name: Rho GTPase activating protein 18
Exons: 15 Introns: 14

Description:
ARHGAP18 is a member of a family of Rho GTPase-activating proteins, which control the activity of Rho-type GTPases (small signalling G proteins) by converting them to an inactive GDP-bound form. They are crucial in cell cytoskeletal organization, growth, differentiation, neuronal development and synaptic functions. ARHGAP18 is highly expressed in the erythroleukemia K562 cell line, which has embryonic-fetal erythroid characteristics; its knockdown resulted in increased HBG1/HBG2 expression. Variation in the ARHGAP18 gene associated with increased HbF levels in cohorts with β-thalassaemia major and HbE disorders.

Synonyms: SENEX , MacGAP , bA307O14.2

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. He Y, Luo J, Chen Y, Zhou X, Yu S, Jin L, Xiao X, Jia S, Liu Q, ARHGAP18 is a novel gene under positive natural selection that influences HbF levels in β-thalassaemia., Mol. Genet. Genomics , 2017 PubMed
  2. Jomoui W, Tepakhan W, Yamsri S, Srivorakun H, Fucharoen G, Fucharoen S, A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders., Ann. Hematol., 99(1), 23-29, 2020 PubMed
Created on 2017-12-14 17:29:40, Last reviewed on 2020-07-02 09:22:40 (Show full history)


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