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RAB2A Gene

protein-coding   GIFtS: 63
GCID: GC08P061429

RAB2A, Member RAS Oncogene Family

(Previous names: RAB2, member RAS oncogene family)
(Previous symbol: RAB2)
  See RAB2A-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
RAB2A, Member RAS Oncogene Family1 2
RAB21 2 3 5
RAB2, Member RAS Oncogene Family1 2
LHX2
Ras-Related Protein Rab-2A2
Small GTP Binding Protein RAB2A2

External Ids:    HGNC: 97631   Entrez Gene: 58622   Ensembl: ENSG000001043887   OMIM: 1795095   UniProtKB: P610193   

Export aliases for RAB2A gene to outside databases

Previous GC identifers: GC08P061593 GC08P056918


(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 RAB2A Gene:
The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine
triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs
are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of
pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi
complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Oct 2011)

GeneCards Summary for RAB2A Gene:
RAB2A (RAB2A, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB2A include vaginal cancer, and duane retraction syndrome. GO annotations related to this gene include GDP binding and GTP binding. An important paralog of this gene is RAB19.

UniProtKB/Swiss-Prot: RAB2A_HUMAN, P61019
Function: Required for protein transport from the endoplasmic reticulum to the Golgi complex

Gene Wiki entry for RAB2A 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_000008.10  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB2A gene promoter:
         Nkx3-1   Tal-1   GATA-3   AP-1   ATF-2   E47   Egr-2   c-Jun   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB2A promoter sequence
   Search Chromatin IP Primers for RAB2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB2A


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

Entrez Gene cytogenetic band: 8q12.1   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12.1

RAB2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB2A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P061429:  view genomic region     (about GC identifiers)

Start:
61,429,416 bp from pter      End:
61,536,203 bp from pter
Size:
106,788 bases      Orientation:
plus 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: RAB2A_HUMAN, P61019 (See protein sequence)
Recommended Name: Ras-related protein Rab-2A  
Size: 212 amino acids; 23546 Da
Subunit: Interacts with PRKCI
1 PDB 3D structure from and Proteopedia for RAB2A:
1Z0A (3D)    
Secondary accessions: B2R5W8 B4DMQ5 P08886
Alternative splicing: 2 isoforms:  P61019-1   P61019-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAB2A: NX_P61019

Explore proteomics data for RAB2A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys56, Lys165
  • Modification sites at PhosphoSitePlus

  • See RAB2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001229573.1  NP_002856.1  

    ENSEMBL proteins: 
     ENSP00000262646   ENSP00000431846   ENSP00000431589   ENSP00000432855   ENSP00000432735  
     ENSP00000433875   ENSP00000398054  
    Reactome Protein details: P61019

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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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    HGNC Gene Families:
    RAB: RAB, member RAS oncogene

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P61019

    ProtoNet protein and cluster: P61019

    4 Blocks protein domains:
    IPB001806 Transforming protein P21 RAS signature
    IPB002041 GTP-binding nuclear protein Ran
    IPB003577 Ras small GTPase
    IPB003578 Ras small GTPase


    UniProtKB/Swiss-Prot: RAB2A_HUMAN, P61019
    Similarity: Belongs to the small GTPase superfamily. Rab family


    Find genes that share domains with RAB2A           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: RAB2A_HUMAN, P61019
    Function: Required for protein transport from the endoplasmic reticulum to the Golgi complex

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA16034420
    GO:0005525GTP binding IDA16034420
    GO:0019003GDP binding IDA16034420
         
    Find genes that share ontologies with RAB2A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for RAB2A:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  Increased resistance to MDM2 i 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RAB2A

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    miRTarBase miRNAs that target RAB2A:
    hsa-mir-215-5p (MIRT024358), hsa-mir-192-5p (MIRT004140), hsa-mir-124-3p (MIRT022905), hsa-mir-320a (MIRT044738), hsa-mir-155-5p (MIRT020899)

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    Selected qRT-PCR Assays for microRNAs that regulate RAB2A (see all 113):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-100* hsa-miR-300 hsa-miR-4272 hsa-miR-3138 hsa-miR-578 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidRAB2A 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
    RAB2A_HUMAN, P61019: Endoplasmic reticulum-Golgi intermediate compartment membrane; Lipid-anchor. Melanosome.
    Endoplasmic reticulum membrane; Lipid-anchor (Potential). Golgi apparatus membrane; Lipid-anchor (Potential).
    Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytosol3
    endosome2
    nucleus2
    extracellular1
    mitochondrion1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IDA17897319

    Find genes that share ontologies with RAB2A           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 RAB2A About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2RNA Polymerase I Promoter Opening
    Mitotic Prophase0.56
    Golgi Cisternae Pericentriolar Stack Reorganization0.00


    Find genes that share SuperPaths with RAB2A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RAB2A
        Epithelial Tight Junctions


    1 Reactome Pathway for RAB2A
        Golgi Cisternae Pericentriolar Stack Reorganization


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB2A
    Interactions:

        GeneGlobe Interaction Network for RAB2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RAB2A (P610192, 3 ENSP000002626464) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAM71CQ8NEG02, 3, ENSP000003152474MINT-68362 I2D: score=4 STRING: ENSP00000315247
    MAPKAPK3Q166442, 3, ENSP000003506394MINT-8262764 I2D: score=2 STRING: ENSP00000350639
    RGS2P412202, 3MINT-8268900 I2D: score=2 
    GOLGA2Q083792, 3, ENSP000004160974MINT-68436 I2D: score=6 STRING: ENSP00000416097
    MAPK6Q166592, 3, ENSP000002618454MINT-8261802 I2D: score=2 STRING: ENSP00000261845
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006184GTP catabolic process TAS2501306
    GO:0006886intracellular protein transport ----
    GO:0006888ER to Golgi vesicle-mediated transport TAS8910601
    GO:0006913nucleocytoplasmic transport ----

    Find genes that share ontologies with RAB2A           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
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for RAB2A

    2 Novoseek inferred chemical compound relationships for RAB2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vtcs 94.3 7 16452474 (4), 16473604 (2), 11208158 (1)
    glyceraldehyde 3-phosphate 66.1 8 19106097 (2), 16473604 (2), 16452474 (2)



    Find genes that share compounds with RAB2A           About GenesLikeMe



    (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 RAB2A gene (2 alternative transcripts): 
    NM_001242644.1  NM_002865.2  

    Unigene Cluster for RAB2A:

    RAB2A, member RAS oncogene family
    Hs.369017  [show with all ESTs]
    Unigene Representative Sequence: NM_002865
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262646(uc003xud.2 uc011lef.2) ENST00000531289 ENST00000481569
    ENST00000529579 ENST00000466595 ENST00000429861 ENST00000531098 ENST00000534260
    ENST00000525529 ENST00000530071 ENST00000452437 ENST00000396696
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    hsa-miR-323-3p hsa-miR-548j hsa-miR-100* hsa-miR-300 hsa-miR-4272 hsa-miR-3138 hsa-miR-578 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidRAB2A 3' UTR sequence
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    Additional mRNA sequence: 

    AF070629.1 AF498930.1 AK297576.1 AK312344.1 AL137321.1 AY034106.1 BC008929.2 BT019695.1 
    M28213.1 S48723.1 X12953.1 

    Selected DOTS entries (see all 32):

    DT.121465159  DT.92447379  DT.75160557  DT.100828439  DT.121465184  DT.100828440  DT.100037921  DT.91897065 
    DT.100828441  DT.100778514  DT.91743610  DT.121465125  DT.450288  DT.95344436  DT.100693540  DT.100828437 
    DT.102833609  DT.121465115  DT.121465150  DT.121465170  DT.121465174  DT.121465182  DT.121465209  DT.121465210 

    Selected AceView cDNA sequences (see all 508):

    BM505056 AW301641 AU139525 AI791989 CD514368 BM693335 CA426794 H97101 
    AI695023 BI758108 BQ689560 AL042082 AI972364 AI139500 BF968076 BM994930 
    BQ684770 BQ023280 F02065 BM853237 AU280391 Z42873 AI624450 CR624395 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RAB2A    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9
    SP1:                    -           -                 -           -               
    SP2:                    -                             -                           
    SP3:                    -           -                 -                           
    SP4:                                                              -               
    SP5:                                                                              


    ECgene alternative splicing isoforms for RAB2A

    (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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    RAB2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGACAGTT
    RAB2A Expression
    About this image


    RAB2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
    RAB2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369017
        Custom PCR Arrays for RAB2A
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB2A

    (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 RAB2A gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab2a1 , 5 RAB2A, member RAS oncogene family1, 5 91.98(n)1
    98.58(a)1
      4 (3.63 cM)5
    590211  NM_021518.31  NP_067493.11 
     85356445 
    chicken
    (Gallus gallus)
    Aves RAB2A1 RAB2A, member RAS oncogene family 87.42(n)
    99.53(a)
      396153  NM_205228.1  NP_990559.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB2A6
    RAB2A, member RAS oncogene family
    99(a)
    1 ↔ 1
    4(28447083-28496107)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF240859.12   -- 83.08(n)    CF240859.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.209142 Danio rerio mRNA similar to RAB2, member RAS oncogene more 81.58(n)    BC044459.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab21 Rab2 73.94(n)
    93.91(a)
      35577  NM_001273803.1  NP_001260732.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1081 unc-108 74.49(n)
    92.35(a)
      171956  NM_058832.4  NP_491233.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPT316
    YPT326
    Rab family GTPase, very similar to Ypt32p; involve...
    Rab family GTPase, very similar to Ypt31p; involve...
    41(a)
    39(a)
    many ↔ many
    many ↔ many
    V(214076-214747) YER031C
    VII(93792-94460) YGL210W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RABB1C1 RABB1C 74.29(n)
    84.57(a)
      827428  NM_117821.3  NP_193450.1 
    rice
    (Oryza sativa)
    Liliopsida Os.84832 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.99(n)    AK059799.1 


    ENSEMBL Gene Tree for RAB2A (if available)
    TreeFam Gene Tree for RAB2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB2A gene
    RAB192  RAB39A2  RAB252  RAB432  RAB142  RAB4B2  RAB39B2  RAB11B2  
    RAB11A2  RAB422  RAB4A2  RAB302  RAB4B-EGLN22  RAB2B2  
    Selected SIMAP similar genes for RAB2A using alignment to 5 protein entries:     RAB2A_HUMAN (see all proteins) (see all similar genes):
    DKFZp313C1541    RAB2B    RAB14    RAB4A    RAB19    RAB8B
    RAB37    RAB8A    RAB11B    RAB4B    RAB13    RAB30
    DKFZp686J06205    RAB15    RAB43    RAB39A    RAB11A    RAB6A

    Find genes that share paralogs with RAB2A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RAB2A
    PGOHUM00000239818


    (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 RAB2A (see all 2176)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794089221,2
    C,F--61427581(+) GAGAGT/CGAAGA 2 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1806734681,2
    C--61427703(+) TAAAGC/GTGAAT 2 -- us2k10--------
    rs1169916651,2
    C,F--61427850(+) CATCCA/GAAGCA 2 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1386245291,2
    --61427875(+) CATGAC/TGGTGT 2 -- us2k10--------
    rs1415856751,2
    --61427891(+) CTAATC/TACATA 2 -- us2k10--------
    rs1853892111,2
    --61427920(+) AAGAGA/TATTAG 2 -- us2k10--------
    rs1901203431,2
    --61428112(+) CCCTCC/TCCAAA 2 -- us2k10--------
    rs2020243531,2
    --61428199(+) TGACA-/CCCTATT 2 -- us2k10--------
    rs23265621,2
    C,F,A,H--61428200(-) AATAGA/GGTGTC 2 -- us2k113Minor allele frequency- G:0.36NS EA NA WA CSA 781
    rs28759671,2
    C,F,A,H--61428280(-) ACTTTT/GCTTTT 2 -- us2k127Minor allele frequency- G:0.33NS EA NA WA CSA 2710

    HapMap Linkage Disequilibrium report for RAB2A (61429416 - 61536203 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RAB2A (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2737068CNV Deletion23290073
    esv2737067CNV Deletion23290073
    esv2737066CNV Deletion23290073
    esv2737065CNV Deletion23290073
    esv273735CNV Insertion20981092
    esv270573CNV Insertion20981092
    esv272923CNV Insertion20981092
    esv1615811CNV Insertion17803354
    esv269471CNV Insertion20981092
    nsv6218CNV Loss18451855

    Human Gene Mutation Database (HGMD): RAB2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB2A
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB2A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 179509    OMIM disorders: --

    2 diseases for RAB2A:    
    About MalaCards
    vaginal cancer    duane retraction syndrome

    2 diseases from the University of Copenhagen DISEASES database for RAB2A:
    Duane retraction syndrome     Vaginal cancer

    Find genes that share disorders with RAB2A           About GenesLikeMe

    1 Novoseek inferred disease relationship for RAB2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sezary syndrome 79.3 2 8096558 (1), 8511040 (1)

    Genetic Association Database (GAD): RAB2A
    Human Genome Epidemiology (HuGE) Navigator: RAB2A (2 documents)

    Export disorders for RAB2A 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 RAB2A gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with RAB2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    2. Structural basis of family-wide Rab GTPase recognition by rabenosyn- 5. (PubMed id 16034420)1, 2 Eathiraj S.... Lambright D.G. (Nature 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Rab2 interacts directly with atypical protein kinase C (aPKC) iota/lambda and inhibits aPKCiota/lambda-dependent glyceraldehyde-3- phosphate dehydrogenase phosphorylation. (PubMed id 14570876)1, 2 Tisdale E.J. (J. Biol. Chem. 2003)
    5. Isoprenoid modification of rab proteins terminating in CC or CXC motifs. (PubMed id 1648736)1, 2 Khosravi-Far R.... Der C.J. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    6. The human Rab genes encode a family of GTP-binding proteins related to yeast YPT1 and SEC4 products involved in secretion. (PubMed id 2501306)1, 2 Zahraoui A.... Tavitian A. (J. Biol. Chem. 1989)
    7. Nucleotide sequence of a new YPT1-related human cDNA which belongs to the ras gene superfamily. (PubMed id 3057444)1, 2 Tachibana K.... Takano T. (Nucleic Acids Res. 1988)
    8. Regulation of anterograde transport of adrenergic and angiotensin II receptors by Rab2 and Rab6 GTPases. (PubMed id 17716866)1, 9 Dong C. and Wu G. (Cell. Signal. 2007)
    9. Localization and identification of sumoylated proteins in human sperm: excessive sumoylation is a marker of defective spermatozoa. (PubMed id 23077236)1 Vigodner M....Callaway M. (Hum. Reprod. 2013)
    10. Molecular structure of the Brucella abortus metalloprotein RicA, a Rab2-binding virulence effector. (PubMed id 24251537)1 Herrou J. and Crosson S. (Biochemistry 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 5862 HGNC: 9763 AceView: RAB2 Ensembl:ENSG00000104388 euGenes: HUgn5862
    ECgene: RAB2A H-InvDB: RAB2A

    (According to HUGE)
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      --

    (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 RAB2A 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 RAB2A gene:
    Search GeneIP for patents involving RAB2A

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



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