Rho Guanine Nucleotide Exchange Factor 12

Alternative Names

  • ARHGEF12
  • Rho Guanine Nucleotide Exchange Factor, Leukemia-Associated
  • Leukemia-Associated Rho GEF
  • LARG
  • KIAA0382
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OMIM Number

604763

NCBI Gene ID

23365

Uniprot ID

Q9NZN5

Length

153,662 bases

No. of Exons

43

No. of isoforms

2

Protein Name

Rho guanine nucleotide exchange factor 12

Molecular Mass

173232 Da

Amino Acid Count

1544

Genomic Location

chr11:120,336,275-120,489,936

Gene Map Locus
11q23.3

Description

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015313.3:c.32+21005A>GUnited Arab EmiratesNC_000011.10:g.120358280A>GAssociationType 2 Diabetes Mellitus; ObesityNG_027960.1:g.26372A>G; NM_015313.3:c.32+21005A>G; NP_056128.1:p.?4938802
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