• Gene id: 25782

Gene Summary

• Gene Symbol: RAB3GAP2   Gene   UCSC   Ensembl
• Aliases: RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150
• Gene name: RAB3 GTPase activating non-catalytic protein subunit 2
• Alternate names: rab3 GTPase-activating protein non-catalytic subunit, RAB3 GTPase activating protein subunit 2 (non-catalytic), RGAP-iso, rab3 GTPase-activating protein 150 kDa subunit, rab3-GAP p150, rab3-GAP regulatory subunit,
• Gene location: 1q41 (220272452: 220148292)     Exons: 35     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the reg
• OMIM: 0

Protein Summary

• Protein general information: Q9H2M9  
  • Name: Rab3 GTPase activating protein non catalytic subunit (RGAP iso) (Rab3 GTPase activating protein 150 kDa subunit) (Rab3 GAP p150) (Rab3 GAP150) (Rab3 GAP regulatory subunit)
  • Length: 1393  
  • Mass: 155985
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQKTSWL
  QDCVLSLSPTNDLMVIAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPLASQKRSSTGR
  PDWTCIVVGFTSGYVRFYTENGVLLLAQLLNEDPVLQLKCRTYEIPRHPGVTEQNEELSILYPAAIVTIDGFSLF
  QSLRACRNQVAKAAASGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQMKTASNIGGFNAAIKNSPPA
  MSQYITVGSNPFTGFFYALEGSTQPLLSHVALAVASKLTSALFNAASGWLGWKSKHEEEAVQKQKPKVEPATPLA
  VRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIRMWKGYRDAQIGWIQTVEDLHERVPEKADFS
  PFGNSQGPSRVAQFLVIYAPRRGILEVWSTQQGPRVGAFNVGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLV
  DPVSGSVKTVNVPFHLALSDKKSERAKDMHLVKKLAALLKTKSPNLDLVETEIKELILDIKYPATKKQALESILA
  SERLPFSCLRNITQTLMDTLKSQELESVDEGLLQFCANKLKLLQLYESVSQLNSLDFHLDTPFSDNDLALLLRLD
  EKELLKLQALLEKYKQENTRTNVRFSDDKDGVLPVKTFLEYLEYEKDVLNIKKISEEEYVALGSFFFWKCLHGES
  STEDMCHTLESAGLSPQLLLSLLLSVWLSKEKDILDKPQSICCLHTMLSLLSKMKVAIDETWDSQSVSPWWQQMR
  TACIQSENNGAALLSAHVGHSVAAQISNNMTEKKFSQTVLGADSEALTDSWEALSLDTEYWKLLLKQLEDCLILQ
  TLLHSKGNTQTSKVSSLQAEPLPRLSVKKLLEGGKGGIADSVAKWIFKQDFSPEVLKLANEERDAENPDEPKEGV
  NRSFLEVSEMEMDLGAIPDLLHLAYEQFPCSLELDVLHAHCCWEYVVQWNKDPEEARFFVRSIEHLKQIFNAHVQ
  NGIALMMWNTFLVKRFSAATYLMDKVGKSPKDRLCRRDVGMSDTAMTSFLGSCLDLLQILMEADVSRDEIQVPVL
  DTEDAWLSVEGPISIVELALEQKHIHYPLVEHHSILCSILYAVMRFSLKTVKPLSLFDSKGKNAFFKDLTSIQLL
  PSGEMDPNFISVRQQFLLKVVSAAVQAQHSATKVKDPTEEATPTPFGKDQDWPALAVDLAHHLQVSEDVVRRHYV
  GELYNYGVDHLGEEAILQVHDKEVLASQLLVLTGQRLAHALLHTQTKEGMELLARLPPTLCTWLKAMDPQDLQNT
  EVPIATTAKLVNKVIELLPEKHGQYGLALHLIEAVEAISLPSL

• Structural information:
  • Interpro: IPR026059  IPR029257  IPR032839  
  • STRING: ENSP00000351832
• Other Databases: GeneCards:  RAB3GAP2  Malacards:  RAB3GAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043087	regulation of GTPase activity	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0006886	intracellular protein transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:2000786	positive regulation of autophagosome assembly	IMP	biological process
GO:1903061	positive regulation of protein lipidation	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:1903373	positive regulation of endoplasmic reticulum tubular network organization	IMP	biological process
GO:0005515	protein binding	ISS	molecular function
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IMP	contributes to
GO:0097051	establishment of protein localization to endoplasmic reticulum membrane	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0030234	enzyme regulator activity	ISS	molecular function

Diseases

Associated diseases	References
Warburg micro syndrome	KEGG:H00792
Martsolf syndrome	KEGG:H00797
Warburg micro syndrome	KEGG:H00792
Martsolf syndrome	KEGG:H00797
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq