RAB3GAP2
Identifiers
AliasesRAB3GAP2, RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150, RAB3 GTPase activating non-catalytic protein subunit 2, MARTS1
External IDsOMIM: 609275; MGI: 1916043; HomoloGene: 40842; GeneCards: RAB3GAP2; OMA:RAB3GAP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012414

NM_001163754
NM_172649

RefSeq (protein)

NP_036546

NP_001157226
NP_001392257

Location (UCSC)Chr 1: 220.15 – 220.27 MbChr 1: 184.94 – 185.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118873Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039318Ensembl, 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. ^ a b "Entrez Gene: RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)".

Further reading

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📚 Artikel Terkait di Wikipedia

Warburg Micro syndrome

is caused by mutations in any of the following genes: RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 Warburg Micro syndrome is diagnosed by genetic testing. It

Esophageal atresia

etiology of EA/TEF were identified as APC2, AMER3, PCDH1, GTF3C1, POLR2B, RAB3GAP2, and ITSN1. This birth defect arises in the fourth fetal week, when the

Microphthalmia

OTX2 PAX2 PAX6 PDE6D PIGL POLR1C POLR1D PORCN PQBP1 PRSS56 PTCH1 RAB3GAP1 RAB3GAP2 RARB RAX RBP4 RPGRIP1L SALL1 SALL2 SALL4 SCLT1 SEMA3E SHH SIX3 SIX6 SMOC1

Wiedemann–Rautenstrauch syndrome

Balasubramanian R (June 2020). "Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome"

Hereditary spastic paraplegia

KLC2 11q13.1 Autosomal recessive Childhood SPOAN syndrome SPG69 609275 RAB3GAP2 1q41 Autosomal recessive Infancy Martsolf syndrome, Warburg Micro syndrome

RAB3GAP1

mineralization potential of human primary osteoblasts. Warburg Micro syndrome RAB3GAP2 - the 150-kD noncatalytic subunit of RAB3GAP complex Tbc domain GRCh38:

Syndromic microphthalmia

WNT3 AR Tetra-amelia syndrome SALL1 AD Townes–Brocks syndrome PUF60 AD Verheij syndrome RAB3GAP1, RAB3GAP2, RAB18, TBC1D20 AR Warburg Micro syndrome 1-4

RAB18

RAB18, RAB3GAP1, RAB3GAP2, or TBC1D20 are thought to cause Warburg Micro syndrome by disrupting RAB18 function. RAB3GAP1, RAB3GAP2, and TBC1D20 genes