RAB3GAP2

Rab3 GTPase-activating protein non-catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP2 gene.[5][6][7]

RAB3GAP2
Identifiers
AliasesRAB3GAP2, RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150, RAB3 GTPase activating non-catalytic protein subunit 2
External IDsOMIM: 609275 MGI: 1916043 HomoloGene: 40842 GeneCards: RAB3GAP2
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q41Start220,148,293 bp[1]
End220,272,453 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

25782

98732

Ensembl

ENSG00000118873

ENSMUSG00000039318

UniProt

Q9H2M9

Q8BMG7

RefSeq (mRNA)

NM_012414

NM_001163754
NM_172649

RefSeq (protein)

NP_036546

NP_001157226

Location (UCSC)Chr 1: 220.15 – 220.27 MbChr 1: 185.2 – 185.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in Ca(2+)-dependent exocytosis. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit (RAB3GAP1; MIM 602536) and a 150-kD noncatalytic subunit (RAB3GAP2) (Nagano et al., 1998).[supplied by OMIM][7]

References

  1. GRCh38: Ensembl release 89: ENSG00000118873 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000039318 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (May 1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
  6. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Megarbane A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER (Mar 2005). "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nat Genet. 37 (3): 221–3. doi:10.1038/ng1517. PMID 15696165. S2CID 7561087.
  7. "Entrez Gene: RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)".

Further reading


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