Atlas of Genetics and Cytogenetics in Oncology and Haematology
ARHGEF12 (Rho guanine nucleotide exchange factor (GEF) 12)
| Identity |
| Other names | LARG (Leukemia Associated Rho Guanine nucleotide exchange factor) |
| KIAA0382 | |
| HGNC (Hugo) | ARHGEF12 |
| LocusID (NCBI) | 23365 |
| Location | 11q23 |
| Location_base_pair | Starts at 120207618 and ends at 120360645 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| Local_order | telomeric to MLL |
| DNA/RNA |
| Transcription | 9501 bp mRNA; 4634 bp open reading frame |
| Protein |
 | |
| Description | the gene encodes a guanine nucleotide exchange factor; 1544 amino acids; NH2- PDZ domain, Lsc homology (LH) domain, bipartite nuclear localization signal, Dbl homology (DH) domain, and a pleckstrin homology (PH) domain -COOH |
| Expression | wide (leukocytes, spleen, prostate, testis, ovary, small intestine, colon, thymus) |
| Function | PDZ domains are involved in protein-protein interactions in transmembrane signaling pathways; LH domains bind G proteins; nuclear localization signals are implicated in translocation of proteins from the cytoplasm to the nucleus; DH domains are responsible for the nucleotide exchange activity of guanine nucleotide exchange (GEF) toward Rho GTPases, PH domains function in membrane localization; Rho GEF are regulators of GTPases, and have oncogenic properties |
| Homology | member of the family of Rho GEF factors, like dbl, vav, tiam, and BCR |
| Implicated in |
| Entity | acute non lymphocytic leukemia (ANLL) with apparently normal cromosomes 11 --> MLL- LARG |
| Note | poorly defined: only 1 case to date, a 38 yr old male patient with occupational exposure; M4-ANLL; CR; death unrelated to the leukemia |
| Cytogenetics | the case was 51,XY,+8,+19,+3mar; the interstitial deletion at 11q23 resulting in MLL-LARG fusion cannot be seen at the chromosome level |
| Hybrid/Mutated Gene | 5' MLL fused at exon 6 with the 3' end of almost the entire LARG; LARG is oriented in a 5' to 3'direction, like MLL |
| Abnormal Protein | excludes the NH2- PDZ domain of LARG, and includes most of LARG, from the Lsc homology (LH) domain to COOH |
| External links |
| Bibliography |
| Identification of a gene at 11q23 encoding a guanine nucleotide exchange factor: evidence for its fusion with MLL in acute myeloid leukemia. |
| Kourlas PJ, Strout MP, Becknell B, Veronese ML, Croce CM, Theil KS, Krahe R, Ruutu T, Knuutila S, Bloomfield CD, Caligiuri MA |
| Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (5) : 2145-2150. |
| PMID 10681437 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 04-2000 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . ARHGEF12 (Rho guanine nucleotide exchange factor (GEF) 12). Atlas Genet Cytogenet Oncol Haematol. April 2000 . URL : http://AtlasGeneticsOncology.org/Genes/LARGID243.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37613/1/04-2000-LARGID243.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Apr 28 15:02:36 CEST 2012 |
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