RAB3GAP2

Protein identityUniProt · HPA

UniProt accession

Q9H2M9

Gene

RAB3GAP2

Ensembl

ENSG00000118873

Chromosome

1

Canonical length

1393 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane,Cytosol

OverviewNCBI Gene

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 regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

1393 residues, UniProt reviewed canonical sequence.

>Q9H2M9|RAB3GAP2
     1  MACSIVQFCY FQDLQAARDF LFPHLREEIL SGALRRDPSK STDWEDDGWG AWEENEPQEP
    61  EEEGNTCKTQ KTSWLQDCVL SLSPTNDLMV IAREQKAVFL VPKWKYSDKG KEEMQFAVGW
   121  SGSLNVEEGE CVTSALCIPL ASQKRSSTGR PDWTCIVVGF TSGYVRFYTE NGVLLLAQLL
   181  NEDPVLQLKC RTYEIPRHPG VTEQNEELSI LYPAAIVTID GFSLFQSLRA CRNQVAKAAA
   241  SGNENIQPPP LAYKKWGLQD IDTIIDHASV GIMTLSPFDQ MKTASNIGGF NAAIKNSPPA
   301  MSQYITVGSN PFTGFFYALE GSTQPLLSHV ALAVASKLTS ALFNAASGWL GWKSKHEEEA
   361  VQKQKPKVEP ATPLAVRFGL PDSRRHGESI CLSPCNTLAA VTDDFGRVIL LDVARGIAIR
   421  MWKGYRDAQI GWIQTVEDLH ERVPEKADFS PFGNSQGPSR VAQFLVIYAP RRGILEVWST
   481  QQGPRVGAFN VGKHCRLLYP GYKIMGLNNV TSQSWQPQTY QICLVDPVSG SVKTVNVPFH
   541  LALSDKKSER AKDMHLVKKL AALLKTKSPN LDLVETEIKE LILDIKYPAT KKQALESILA
   601  SERLPFSCLR NITQTLMDTL KSQELESVDE GLLQFCANKL KLLQLYESVS QLNSLDFHLD
   661  TPFSDNDLAL LLRLDEKELL KLQALLEKYK QENTRTNVRF SDDKDGVLPV KTFLEYLEYE
   721  KDVLNIKKIS EEEYVALGSF FFWKCLHGES STEDMCHTLE SAGLSPQLLL SLLLSVWLSK
   781  EKDILDKPQS ICCLHTMLSL LSKMKVAIDE TWDSQSVSPW WQQMRTACIQ SENNGAALLS
   841  AHVGHSVAAQ ISNNMTEKKF SQTVLGADSE ALTDSWEALS LDTEYWKLLL KQLEDCLILQ
   901  TLLHSKGNTQ TSKVSSLQAE PLPRLSVKKL LEGGKGGIAD SVAKWIFKQD FSPEVLKLAN
   961  EERDAENPDE PKEGVNRSFL EVSEMEMDLG AIPDLLHLAY EQFPCSLELD VLHAHCCWEY
  1021  VVQWNKDPEE ARFFVRSIEH LKQIFNAHVQ NGIALMMWNT FLVKRFSAAT YLMDKVGKSP
  1081  KDRLCRRDVG MSDTAMTSFL GSCLDLLQIL MEADVSRDEI QVPVLDTEDA WLSVEGPISI
  1141  VELALEQKHI HYPLVEHHSI LCSILYAVMR FSLKTVKPLS LFDSKGKNAF FKDLTSIQLL
  1201  PSGEMDPNFI SVRQQFLLKV VSAAVQAQHS ATKVKDPTEE ATPTPFGKDQ DWPALAVDLA
  1261  HHLQVSEDVV RRHYVGELYN YGVDHLGEEA ILQVHDKEVL ASQLLVLTGQ RLAHALLHTQ
  1321  TKEGMELLAR LPPTLCTWLK AMDPQDLQNT EVPIATTAKL VNKVIELLPE KHGQYGLALH
  1381  LIEAVEAISL PSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAB3GAP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

17 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAB3GAP2.

Disease | AllUniProt

Conditions RAB3GAP2 is implicated in, by any mechanism.

• Martsolf syndrome 1 (MARTS1) MIM:212720
• Warburg micro syndrome 2 (WARBM2) MIM:614225

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 879 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Warburg micro syndrome 2
• Martsolf syndrome
• Martsolf syndrome 1
• RAB3GAP2-related disorder
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.29

gnomAD pLI

0.99

gnomAD missense Z

0.87

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• establishment of protein localization to endoplasmic reticulum membrane
• intracellular protein transport
• macroautophagy
• positive regulation of autophagosome assembly
• positive regulation of endoplasmic reticulum tubular network organization
• positive regulation of protein lipidation
• regulation of GTPase activity
• synaptic signaling

Molecular functions

• enzyme activator activity
• enzyme regulator activity
• GTPase activator activity
• small GTPase binding

Cellular components

• autophagosome
• cytosol
• endoplasmic reticulum membrane
• plasma membrane
• presynaptic membrane
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Rab3GAP regulatory subunit
• Rab3GAP regulatory subunit, C-terminal
• Rab3-GAP regulatory subunit, N-terminal
• Rab3 GTPase-activating protein regulatory subunit N-terminus
• Rab3 GTPase-activating protein regulatory subunit C-terminus

KeywordsUniProt

• Cataract
• Cytoplasm
• Endoplasmic reticulum
• GTPase activation
• Intellectual disability
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of RAB3GAP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DMXL2
• LMAN1
• RAB3GAP1
• VAPA
• VAPB