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Aliases & Descriptions for RAB3GAP2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DKFZP434D245 1 | | DKFZp434D245 2 | | FLJ14579 2 | | KIAA0839 1, 2, 3, 5 | | RAB3-GAP150 1, 2, 3 | | RAB3GAP150 2, 5 | | RGAP-iso 3 | | p150 2, 5 |
| | | Descriptions |
|---|
| RAB3 GTPase activating protein subunit 2 (non-catalytic) 2 | | Rab3 GTPase-activating protein 150 kDa subunit 3 | | Rab3-GAP p150 3 | | Rab3-GAP regulatory subunit 3 | | rab3 GTPase-activating protein, non-catalytic subunit 2 | rab3 GTPase-activating protein, non-catalytic subunit (150kD) 2 | rab3 GTPase-activating protein, non-catalytic subunit (RAB3-GAP150) 2 |
|
| | Search outside databases for aliases for RAB3GAP2 genePrevious GC identifer: GC01M216712 |
Summaries for RAB3GAP2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for RAB3GAP2: 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 [PubMed 9733780]).[supplied by OMIM] UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9Function: Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmittersGene Wiki entry for RAB3GAP2 |
Genomic Location for RAB3GAP2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the RAB3GAP2 gene 
Entrez Gene cytogenetic band: 1q41 Ensembl cytogenetic band: 1q41 HGNC cytogenetic band: 1p36.13-p35.3RAB3GAP2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M218388:
(about GC identifiers)
Start:
|
218,388,258 bp from pter |
End:
|
218,512,419 bp from pter |
Size:
|
124,162 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_021877.18
| Proteins for RAB3GAP2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9 (See
protein sequence)Recommended Name: Rab3 GTPase-activating protein non-catalytic subunit Size: 1393 amino acids; 155985 Da
Subunit: The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2 (By similarity)
Subcellular location: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction
Secondary accessions: O75872 Q9HAB0 Q9UFJ7 Q9UQ15Alternative splicing: 2 isoforms: Q9H2M9-1 Q9H2M9-2 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_036546.2
ENSEMBL proteins: ENSP00000237724 ENSP00000351832
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for RAB3GAP2: Assays for RAB3GAP2: | Protein
Domains/ Families for RAB3GAP2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9H2M9 UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9Similarity: Belongs to the Rab3-GAP regulatory subunit family | Gene Function for RAB3GAP2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012414
Applied Biosystems Silencer® siRNAs for RAB3GAP2
Sigma-Aldrich siRNA for RAB3GAP2  Sigma-Aldrich shRNA for RAB3GAP2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_012414                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_012414                                  untagged cDNA clone in CMV expression vector: NM_012414 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_012414
UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9Function: Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for RAB3GAP2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for RAB3GAP2 (Your Favorite Gene powered by Ingenuity) 
5/7 Interacting proteins for RAB3GAP2 (ENSP000003518323 Q9H2M91) via UniProtKB, MINT, and/or STRING (see all 7
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006886 | intracellular protein transport |
TAS | 9733780 | | GO:0043087 | regulation of GTPase activity |
ISS | -- | About this table
|
Drugs & Compounds for RAB3GAP2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for RAB3GAP2 |
Browse Tocris compounds for RAB3GAP2
|
Transcripts for RAB3GAP2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012414
Sigma-Aldrich siRNA for RAB3GAP2  Sigma-Aldrich shRNA for RAB3GAP2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_012414 REFSEQ mRNAs for RAB3GAP2 gene: NM_012414.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_012414               OriGene GFP tagged cDNA clone in CMV expression vector: NM_012414                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_012414                                  untagged cDNA clone in CMV expression vector: NM_012414  Additional cDNA sequence: AB020646.2 AF004828.1 AF255648.1 AK021928.1 AK027485.1 AK291234.1 AL117631.1 BC036513.1 BC050630.1 BC098383.1 BC131573.1 BC146760.1 CR592496.1 CR614186.1 20 DOTS entries: DT.91974860 DT.91754937 DT.452091 DT.91704448 DT.91704447 DT.95165502 DT.100797994 DT.444754 DT.91997697 DT.40204000 DT.439487 DT.428750 DT.97845479 DT.75123531 DT.91785387 DT.121336601 DT.428380 DT.92028881 DT.95165468 DT.95249571 24/272 AceView cDNA sequences (see all 272
):CA421840 AA598452 BM678288 AU119936 BQ083220 AA125924 CA432059 AA651952 AA398292 F11281 AA293868 AI610440 AI860647 AA782128 BF436171 N67250 AA167705 AW196016 BE464652 CA306732 N90445 BU689810 H89907 CR592496
highest scoring ESTs for RAB3GAP2:AF004828 AA262708 AA627803 AB020646 AF255648 AI133373 AI139918 AI268997 AI298790 AI742445 Unigene Cluster for RAB3GAP2: RAB3 GTPase activating protein subunit 2 (non-catalytic) Hs.654849 [show with all ESTs]Unigene Representative Sequence: NM_012414
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000237724
ENST00000358951
|
Expression for RAB3GAP2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| RAB3GAP2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for RAB3GAP2
1 / 2 / 3 12 probe-sets matching RAB3GAP2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AACACGATTT
SOURCE GeneReport for Unigene cluster: Hs.654849 UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9Tissue specificity: Ubiquitous |
Orthologs for RAB3GAP2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for RAB3GAP2 gene from 5/12 species (see all 12
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
RAB3GAP21 |
-- |
RAB3 GTPase activating protein subunit 2 (non-catalytic) |
91.41(n) 95.33(a) |
478964 XM_536122.2 XP_536122.2 |
chimpanzee (Pan troglodytes) |
RAB3GAP21 |
-- |
RAB3 GTPase activating protein subunit 2 (non-catalytic) |
99.71(n) 99.86(a) |
457751 XM_514211.2 XP_514211.2 |
cow (Bos taurus) |
RAB3GAP21 |
-- |
RAB3 GTPase activating protein subunit 2 (non-catalytic) |
89.77(n) 92.6(a) |
539227 XM_585763.3 XP_585763.2 |
rat (Rattus norvegicus) |
Rab3gap21 |
-- |
RAB3 GTPase activating protein subunit 2 |
83.71(n) 87.91(a) |
289350 XM_001081955.1 XP_001081955.1 |
mouse (Mus musculus) |
Rab3gap25 |
1 |
RAB3 GTPase activating protein subunit 2 |
-- |
BG080373 |
About this table Species with no ortholog for RAB3GAP2
ENSEMBL Gene Tree for RAB3GAP2 | Paralogs for RAB3GAP2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for RAB3GAP2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for RAB3GAP2 (up to first 250kb)
|
Disorders & Mutations for RAB3GAP2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 609275 disorders: 212720 UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9
Defects in RAB3GAP2 are the cause of Martsolf syndrome [MIM:212720]. Martsolf syndrome is characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessiveHuman Gene Mutation Database: RAB3GAP2
|
Medical News for RAB3GAP2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for RAB3GAP2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/18 PubMed articles for RAB3GAP2 gene (see all 18
): |
Search for RAB3GAP2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RAB3GAP2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing RAB3GAP2
(According to HUGE)
About This Section
| |
Specialized Databases showing RAB3GAP2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for RAB3GAP2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for RAB3GAP2:

|
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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