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RAB3GAP2 Gene

protein-coding   GIFtS: 54
GCID: GC01M220322

RAB3 GTPase Activating Protein Subunit 2 (Non-Catalytic)

  See RAB3GAP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RAB3 GTPase Activating Protein Subunit 2 (Non-Catalytic)1 2     p1502 5
Rab3 GTPase-Activating Protein 150 KDa Subunit2 3     KIAA08393 5
Rab3-GAP P1502 3     RAB3-GAP1502
Rab3-GAP Regulatory Subunit2 3     SPG692
RGAP-iso2 3     Rab3 GTPase-Activating Protein Non-Catalytic Subunit2
RAB3GAP1502 5     Rab3-GAP1503
WARBM22 5     

External Ids:    HGNC: 171681   Entrez Gene: 257822   Ensembl: ENSG000001188737   OMIM: 6092755   UniProtKB: Q9H2M93   

Export aliases for RAB3GAP2 gene to outside databases

Previous GC identifers: GC01M216712 GC01M218388 GC01M190996


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RAB3GAP2 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)

GeneCards Summary for RAB3GAP2 Gene:
RAB3GAP2 (RAB3 GTPase activating protein subunit 2 (non-catalytic)) is a protein-coding gene. Diseases associated with RAB3GAP2 include autosomal recessive spastic paraplegia type 69, and warburg micro syndrome 2. GO annotations related to this gene include enzyme activator activity and protein heterodimerization activity.

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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB3GAP2 gene promoter:
         c-Fos   AP-1   POU6F1 (c2)   LUN-1   YY1   Nkx6-1   FOXJ2 (long isoform)   FOXJ2   ZID   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB3GAP2 promoter sequence
   Search Chromatin IP Primers for RAB3GAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB3GAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q41

RAB3GAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB3GAP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M220322:  view genomic region     (about GC identifiers)

Start:
220,321,610 bp from pter      End:
220,445,843 bp from pter
Size:
124,234 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
Secondary accessions: A6H8V0 O75872 Q9HAB0 Q9UFJ7 Q9UQ15
Alternative splicing: 2 isoforms:  Q9H2M9-1   Q9H2M9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAB3GAP2: NX_Q9H2M9

Explore proteomics data for RAB3GAP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys913, Lys1363
  • Modification sites at PhosphoSitePlus

  • See RAB3GAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036546.2  
    ENSEMBL proteins: 
     ENSP00000351832   ENSP00000418560   ENSP00000420156  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026059 Rab3-gap_reg

    Graphical View of Domain Structure for InterPro Entry Q9H2M9

    ProtoNet protein and cluster: Q9H2M9

    UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9
    Similarity: Belongs to the Rab3-GAP regulatory subunit family


    Find genes that share domains with RAB3GAP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0008047enzyme activator activity TAS9733780
    GO:0030234enzyme regulator activity ISS--
    GO:0046982protein heterodimerization activity ISS--
         
    Find genes that share ontologies with RAB3GAP2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Rab3gap2 (no phenotypes)

    Find genes that share phenotypes with RAB3GAP2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RAB3GAP2

    miRNA
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    miRTarBase miRNAs that target RAB3GAP2:
    hsa-let-7b-5p (MIRT032493), hsa-mir-34a-5p (MIRT025566)

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    SwitchGear 3'UTR luciferase reporter plasmidRAB3GAP2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBGPR_HUMAN, Q9H2M9: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with RAB3GAP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RAB3GAP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Neurotransmitter Release Cycle
    Effects of Botulinum toxin0.40


    1 BioSystems Pathway for RAB3GAP2
        Effects of Botulinum toxin


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB3GAP2
    Interactions:

        Search GeneGlobe Interaction Network for RAB3GAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for RAB3GAP2 (Q9H2M91, 3 ENSP000003518324) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTP4A3O753651, 3, ENSP000003322744EBI-536107,EBI-1043866 I2D: score=2 STRING: ENSP00000332274
    MAP1LC3AQ9H4923, ENSP000003639704I2D: score=3 STRING: ENSP00000363970
    EXOSC6Q5RKV63, ENSP000003985974I2D: score=2 STRING: ENSP00000398597
    RAB3GAP1Q150423, ENSP000002641584I2D: score=2 STRING: ENSP00000264158
    FEZ1Q996893, ENSP000002789194I2D: score=1 STRING: ENSP00000278919
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport TAS9733780
    GO:0043085positive regulation of catalytic activity TAS9733780
    GO:0043087regulation of GTPase activity ISS--
    GO:0043547positive regulation of GTPase activity TAS9733780

    Find genes that share ontologies with RAB3GAP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RAB3GAP2 (RBGPR)

    1 HMDB Compound for RAB3GAP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RAB3GAP2 gene: 
    NM_012414.3  

    Unigene Cluster for RAB3GAP2:

    RAB3 GTPase activating protein subunit 2 (non-catalytic)
    Hs.654849  [show with all ESTs]
    Unigene Representative Sequence: NM_012414
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358951(uc010puk.1 uc021pjf.1 uc001hmf.2 uc001hmg.2)
    ENST00000491005 ENST00000474966 ENST00000491305 ENST00000478976 ENST00000237724
    ENST00000484658 ENST00000474178 ENST00000475769 ENST00000462353
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    Additional mRNA 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 

    18 DOTS entries:

    DT.91974860  DT.91754937  DT.452091  DT.91704448  DT.91704447  DT.95165502  DT.91997697  DT.100797994 
    DT.444754  DT.40204000  DT.97845479  DT.75123531  DT.121336601  DT.428380  DT.428750  DT.92028881 
    DT.95165468  DT.95249571 

    Selected AceView cDNA sequences (see all 272):

    H82588 AI860647 C02538 T08500 AI610440 BG284610 BU689810 AI243813 
    CB161508 AL698736 AA464513 BF589293 BQ083220 BG149223 BF197536 BM310481 
    AA293868 AA804535 AI692526 BF436171 NM_012414 BM852422 F08943 AA806010 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RAB3GAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RAB3GAP2 Expression
    About this image


    RAB3GAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    RAB3GAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB3GAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654849

    UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAB3GAP2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab3gap21 , 5 RAB3 GTPase activating protein subunit 21, 5 84.72(n)1
    89.24(a)1
      1 (89.45 cM)5
    987321  NM_001163754.11  NP_001157226.11 
     1852041685 
    chicken
    (Gallus gallus)
    Aves RAB3GAP21 RAB3 GTPase activating protein subunit 2 (non-catalytic) less 76.53(n)
    80.61(a)
      421343  NM_001163800.1  NP_001157272.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB3GAP26
    RAB3 GTPase activating protein subunit 2 (non-cata...
    80(a)
    1 ↔ 1
    1(243317690-243377573)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rab3gap21 RAB3 GTPase activating protein subunit 2 (non-catalytic) less 70.82(n)
    74.53(a)
      100145752  NM_001127123.1  NP_001120595.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb94b082 Transcribed sequence with weak similarity to protein pirT17332 (H.sapiens) T17332 hypothetical protein DKFZp434D245.1 - human (fragment) less 77.78(n)    CF999832.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rab3-GAP1 rab3-GAP 44.64(n)
    32.62(a)
      34626  NM_135700.4  NP_609544.2 
    worm
    (Caenorhabditis elegans)
    Secernentea rbg-26
    Protein RBG-2, isoform a (rbg-2) mRNA, complete cd...
    20(a)
    1 ↔ 1
    I(7962052-7972441) WBGene00004318
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G149101 AT3G14910 45.32(n)
    30.12(a)
      820720  NM_112353.3  NP_188109.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g03158001 Os09g0315800 42.13(n)
    28.64(a)
      4346700  NM_001069383.1  NP_001062848.1 


    ENSEMBL Gene Tree for RAB3GAP2 (if available)
    TreeFam Gene Tree for RAB3GAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RAB3GAP2 (see all 2290)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0298814
    Martsolf syndrome (MARTS)4--see VAR_0298812 G C mis40--------
    rs1820881861,2
    Cuntested1227226427(+) CTCAGC/TAAATG 1 -- int10--------
    rs1382122271,2
    --191061500(+) GTTGGA/GGGGGG 1 -- int10--------
    rs1415740791,2
    --191061510(+) GGGGG-/AGAGAG 1 -- int10--------
    rs1462145161,2
    C--191087763(+) AGATT-/AAAAAA 1 -- int10--------
    rs579065521,2
    C--191090290(+) AAGGT-/ATTCCG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1389737891,2
    C--191100481(+) GGATC-/AGGAGATC 1 -- int10--------
    rs1473979961,2
    C--191108086(+) TATTC-/ACAAT 
            
    ACAAT
    1 -- int10--------
    rs3742227751,2
    C--220323793(+) TTTGC-/TTTTTT 2 -- ut310--------
    rs75461751,2
    C,F,A--220337086(+) acataT/Catata 1 -- int15Minor allele frequency- C:0.25NA CSA 12

    HapMap Linkage Disequilibrium report for RAB3GAP2 (220321610 - 220445843 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RAB3GAP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723173CNV Deletion23290073
    esv2673210CNV Deletion23128226
    nsv826675CNV Loss20364138
    nsv826686CNV Loss20364138
    nsv4643CNV Loss18451855
    esv6960CNV Gain19470904

    Human Gene Mutation Database (HGMD): RAB3GAP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB3GAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB3GAP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609275   
    OMIM disorders: 212720  614225  
    UniProtKB/Swiss-Prot: RBGPR_HUMAN, Q9H2M9
  • Martsolf syndrome (MARTS) [MIM:212720]: Characterized by congenital cataracts, mental retardation, and
    hypogonadism. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Warburg micro syndrome 2 (WARBM2) [MIM:614225]: A rare syndrome characterized by microcephaly,
    microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus
    callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for RAB3GAP2:    
    About MalaCards
    autosomal recessive spastic paraplegia type 69    warburg micro syndrome 2    martsolf syndrome    warburg micro syndrome
    micro syndrome    warburg micro syndrome 1    ichthyosis vulgaris


    Find genes that share disorders with RAB3GAP2           About GenesLikeMe

    Genetic Association Database (GAD): RAB3GAP2

    Export disorders for RAB3GAP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RAB3GAP2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with RAB3GAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. (PubMed id 16532399)1, 2, 3 Aligianis I.A.... Maher E.R. (Am. J. Hum. Genet. 2006)
    2. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PubMed id 24482476)1, 3 Novarino G....Gleeson J.G. (Science 2014)
    3. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. (PubMed id 20967465)1, 2 Borck G.... Kubisch C. (Hum. Genet. 2011)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. (PubMed id 15696165)1, 3 Aligianis I.A.... Maher E.R. (Nat. Genet. 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    8. Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein. (PubMed id 9733780)1, 2 Nagano F.... Takai Y. (J. Biol. Chem. 1998)
    9. 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. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    10. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 25782 HGNC: 17168 AceView: RAB3-GAP150 Ensembl:ENSG00000118873 euGenes: HUgn25782
    ECgene: RAB3GAP2 H-InvDB: RAB3GAP2

    (According to HUGE)
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    HUGE: KIAA0839

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RAB3GAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAB3GAP2 gene:
    Search GeneIP for patents involving RAB3GAP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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