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RAB3GAP2 Gene

protein-coding   GIFtS: 50

GC01M218388
RAB3 GTPase activating protein subunit 2 (non-catalytic)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(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
External Ids
HGNC: 171681
Entrez Gene: 257822
UniProtKB: Q9H2M93
Ensembl: ENSG000001188737
Search outside databases for aliases for RAB3GAP2 gene

Previous GC identifer: GC01M216712

(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, Q9H2M9
Function: 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 neurotransmitters

Gene Wiki entry 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-p35.3

RAB3GAP2 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  
(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 Q9UQ15
Alternative 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 
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                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction ISS--
    GO:0005737 cytoplasm IEA--
    About this table

    Antibodies for RAB3GAP2: 
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    Search Novus for antibodies for RAB3GAP2

    Assays for RAB3GAP2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (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, Q9H2M9
    Similarity: Belongs to the Rab3-GAP regulatory subunit family

    (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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAB3GAP2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  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  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  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, Q9H2M9
    Function: 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 neurotransmitters

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096 GTPase activator activity TAS9733780
    GO:0005515 protein binding IPI17353931
    GO:0046982 protein heterodimerization activity ISS--
    About this table

    (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) 
     Aminoacyl-tRNA Biosynthesis
     Valine, Leucine and Isoleucine Biosynthesis

       GeneDecks  RAB3GAP2 for the pathways selected above  
    About GeneDecksing


    5/7 Interacting proteins for RAB3GAP2 (ENSP000003518323 Q9H2M91) via UniProtKB, MINT, and/or STRING (see all 7 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTP4A3O753651EBI-536107, EBI-1043866
    RAB3GAP1ENSP000002641583STRING (score=.983)
    ENSG00000220205ENSP000003142143STRING (score=.899)
    RIMS1ENSP000002648393STRING (score=.899)
    SNAP25ENSP000002549763STRING (score=.899)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886 intracellular protein transport TAS9733780
    GO:0043087 regulation of GTPase activity ISS--
    About this table
    (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 Small Molecules at Sigma-Aldrich

    Browse Tocris compounds 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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAB3GAP2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  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  
    (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


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    32763_r_at2, 3 U95-A 1 0.88 1.00 0.37 0.39 AF004828 1.00 0.80 0.91 1

    32762_i_at2, 3 U95-A 1 0.85 1.00 0.78 0.90 AF004828 1.00 0.80 0.91 1

    53864_at2, 3 U95-B 1 0.81 1.00 0.67 1.35 AI766169 0.40 0.75 0.60 1

    74990_r_at2, 3 U95-E 1 0.38 1.00 0.42 0.75 AI860647 0.60 0.83 0.73 1

    202372_at2, 3 U133-A 1 1.00 1.00 -- -- BF240652 0.20 0.25 0.23 2

    216057_at2, 3 U133-A 1 1.00 1.00 -- -- AK021928 0.60 0.83 0.73 1

    202374_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_012414 0.60 0.83 0.73 1

    202373_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF255648 0.80 0.75 0.78 1

    202372_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    216057_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    202374_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    202373_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    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, Q9H2M9
    Tissue specificity: Ubiquitous

    (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 according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/445 NCBI SNPs in RAB3GAP2 are shown (see all 445 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 143)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs38143451,2
    A,C,F,H218514281(+) CTGAGG/ACATTC 1 -- ng314Minor allele frequency- A:0.00EU EA WA 364
    rs26679611,2
    A,F,H,O218514225(+) AATGCA/CTTTTG 1 -- ng314Minor allele frequency- C:0.06EU EA WA 418
    rs66904261,2
    A,C,F,H218513432(+) TTGTTT/CCTTTG 1 -- ng314Minor allele frequency- C:0.10EU EA WA 398
    rs22891891,2
    C,F,H218397828(+) TGTCAC/GTCATT 1 S/T mis113Minor allele frequency- G:0.07EA NA EU WA 2538
    rs120454471,2
    C,F,H218411076(+) AACTGT/CTTGGG 1 A/T mis19Minor allele frequency- C:0.10EU EA WA NA 898
    rs120756591,2
    F,H218514166(+) GACACT/CTTCTG 1 -- ng314Minor allele frequency- C:0.01EU EA WA 416
    rs10591401,2
    F,H218390812(-) ATCAGT/CAGCGT 1 -- ut31 ese35Minor allele frequency- C:0.06MN EU EA WA 596
    rs25771261,2
    C,F,H218422807(-) AGGACA/GAATGT 1 T/T syn18Minor allele frequency- G:0.05NA EU EA WA 616
    rs115477791,2
    C,F218397295(-) ATCTTG/ATATGC 1 L/L syn1 ese31Minor allele frequency- A:0.12NA 52
    rs28080171,2
    A,C,F,H,O218507341(+) CTACTT/GCTCTT 1 -- int1 trp38Minor allele frequency- G:0.06EU EA WA 834
    About this table

    HapMap Linkage Disequilibrium images for RAB3GAP2 (up to first 250kb)

    (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 recessive
  • Human Gene Mutation Database: RAB3GAP2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (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 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 25782 HGNC: 17168 AceView: RAB3-GAP150 Ensembl:ENSG00000118873 euGenes: HUgn25782
    ECgene: RAB3GAP2 H-InvDB: RAB3GAP2
    (According to HUGE)
    About This Section

    HUGE: KIAA0839
    (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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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