Property Summary

NCBI Gene PubMed Count 21
PubMed Score 2.44
PubTator Score 7.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Warburg Sjo Fledelius syndrome 4
Disease Target Count P-value
ovarian cancer 8491 4.9e-06
osteosarcoma 7933 8.6e-05
lung cancer 4473 4.6e-04
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Cataract 104 0.0 4.0
Intellectual disability 573 0.0 4.0
Disease Target Count Z-score Confidence
Microcephaly 149 3.359 1.7
Microphthalmia 79 3.166 1.6

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.082 8.6e-05
lung cancer 1.300 4.6e-04
ovarian cancer -1.300 4.9e-06

Gene RIF (7)

PMID Text
25495476 RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy
24891604 Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure
23420520 One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases
23176487 Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. [Review]
20967465 functionally severe RAB3GAP2 mutations cause Warburg Micro syndrome while hypomorphic RAB3GAP2 mutations can result in the milder Martsolf phenotype
18849981 KIF1Bbeta- and KIF1A-mediated axonal transport of presynaptic regulator RAB3GAP2 occurs in a GTP-dependent manner through MADD.
18485483 Data show that at chemical synapses, Rab3 performs specific functions in synpatic vesicle exocytosis.

AA Sequence

MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQ      1 - 70
KTSWLQDCVLSLSPTNDLMVIAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPL     71 - 140
ASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLLNEDPVLQLKCRTYEIPRHPGVTEQNEELSI    141 - 210
LYPAAIVTIDGFSLFQSLRACRNQVAKAAASGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQ    211 - 280
MKTASNIGGFNAAIKNSPPAMSQYITVGSNPFTGFFYALEGSTQPLLSHVALAVASKLTSALFNAASGWL    281 - 350
GWKSKHEEEAVQKQKPKVEPATPLAVRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIR    351 - 420
MWKGYRDAQIGWIQTVEDLHERVPEKADFSPFGNSQGPSRVAQFLVIYAPRRGILEVWSTQQGPRVGAFN    421 - 490
VGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLVDPVSGSVKTVNVPFHLALSDKKSERAKDMHLVKKL    491 - 560
AALLKTKSPNLDLVETEIKELILDIKYPATKKQALESILASERLPFSCLRNITQTLMDTLKSQELESVDE    561 - 630
GLLQFCANKLKLLQLYESVSQLNSLDFHLDTPFSDNDLALLLRLDEKELLKLQALLEKYKQENTRTNVRF    631 - 700
SDDKDGVLPVKTFLEYLEYEKDVLNIKKISEEEYVALGSFFFWKCLHGESSTEDMCHTLESAGLSPQLLL    701 - 770
SLLLSVWLSKEKDILDKPQSICCLHTMLSLLSKMKVAIDETWDSQSVSPWWQQMRTACIQSENNGAALLS    771 - 840
AHVGHSVAAQISNNMTEKKFSQTVLGADSEALTDSWEALSLDTEYWKLLLKQLEDCLILQTLLHSKGNTQ    841 - 910
TSKVSSLQAEPLPRLSVKKLLEGGKGGIADSVAKWIFKQDFSPEVLKLANEERDAENPDEPKEGVNRSFL    911 - 980
EVSEMEMDLGAIPDLLHLAYEQFPCSLELDVLHAHCCWEYVVQWNKDPEEARFFVRSIEHLKQIFNAHVQ    981 - 1050
NGIALMMWNTFLVKRFSAATYLMDKVGKSPKDRLCRRDVGMSDTAMTSFLGSCLDLLQILMEADVSRDEI   1051 - 1120
QVPVLDTEDAWLSVEGPISIVELALEQKHIHYPLVEHHSILCSILYAVMRFSLKTVKPLSLFDSKGKNAF   1121 - 1190
FKDLTSIQLLPSGEMDPNFISVRQQFLLKVVSAAVQAQHSATKVKDPTEEATPTPFGKDQDWPALAVDLA   1191 - 1260
HHLQVSEDVVRRHYVGELYNYGVDHLGEEAILQVHDKEVLASQLLVLTGQRLAHALLHTQTKEGMELLAR   1261 - 1330
LPPTLCTWLKAMDPQDLQNTEVPIATTAKLVNKVIELLPEKHGQYGLALHLIEAVEAISLPSL          1331 - 1393
//

Text Mined References (29)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25495476 2014 RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy.
24891604 2014 Rab18 and a Rab18 GEF complex are required for normal ER structure.
24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
21269460 2011 Initial characterization of the human central proteome.
20967465 2011 A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
18849981 2008 KIF1Bbeta- and KIF1A-mediated axonal transport of presynaptic regulator Rab3 occurs in a GTP-dependent manner through DENN/MADD.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18485483 2008 Rab GTPases and their roles in brain neurons and glia.
18088087 2008 Phosphoproteome of resting human platelets.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16532399 2006 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231747 2004 A protein interaction framework for human mRNA degradation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
10048485 1998 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.
9733780 1998 Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.