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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB8B Gene

protein-coding   GIFtS: 51
GCID: GC15P063481

RAB8B, member RAS oncogene family

 Explore 1 disease affiliated with
RAB8B via our new
 Human Malady Compendium 
Biological research products
for RAB8B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAB8B, Member RAS Oncogene Family1 2
RAB-8b Protein2
Ras-Related Protein Rab-8B2

External Ids:    HGNC: 302731   Entrez Gene: 517622   Ensembl: ENSG000001661287   OMIM: 6135325   UniProtKB: Q929303   

Export aliases for RAB8B gene to outside databases

Previous GC identifers: GC15P061197 GC15P061268 GC15P040304


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAB8B:
RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of
distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking
and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 (PubMed 9030196)).(supplied by
OMIM, Nov 2010)

UniProtKB/Swiss-Prot: RAB8B_HUMAN, Q92930
Function: May be involved in vesicular trafficking and neurotransmitter release (By similarity). May participate in
cell junction dynamics in Sertoli cells (By similarity)

Gene Wiki entry for RAB8B


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB8B gene promoter:
         GR   TBP   SRF   SRF (504 AA)   AP-2gamma   NF-kappaB   AREB6   TFIID   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB8B promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB8B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB8B


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

Entrez Gene cytogenetic band: 15q22.2   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q22

RAB8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB8B gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P063481:  view genomic region     (about GC identifiers)

Start:
63,481,668 bp from pter      End:
63,559,981 bp from pter
Size:
78,314 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RAB8B_HUMAN, Q92930 (See protein sequence)
Recommended Name: Ras-related protein Rab-8B precursor  
Size: 207 amino acids; 23584 Da
Subunit: Interacts with OTOF and PEX5R (By similarity). Interacts with RAB3IP. Interacts with VIM AND CDH1 (By
similarity). Associated with actin, delta-catenin and alpha and beta tubulins (By similarity)
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Cytoplasmic vesicle, phagosome.
Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Note=Recruited to phagosomes containing
S.aureus or M.tuberculosis
Secondary accessions: Q5JPC4 Q9P293

Explore the universe of human proteins at neXtProt for RAB8B: NX_Q92930

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92930

  • RAB8B Protein expression data from MOPED and PaxDb:    About this image 
    RAB8B Protein Expression
    REFSEQ proteins: NP_057614.1  
    ENSEMBL proteins: 
     ENSP00000312734   ENSP00000453236   ENSP00000453679   ENSP00000453111   ENSP00000453982  
     ENSP00000405463  

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    Uscn Proteins for RAB8B

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion IEA--
    GO:0005778peroxisomal membrane IDA18346465
    GO:0005886plasma membrane IEA--
    GO:0030670phagocytic vesicle membrane IEA--

    RAB8B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RAB8B for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type

    Graphical View of Domain Structure for InterPro Entry Q92930

    ProtoNet protein and cluster: Q92930

    1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB8B_HUMAN, Q92930
    Similarity: Belongs to the small GTPase superfamily. Rab family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB8B_HUMAN, Q92930
    Function: May be involved in vesicular trafficking and neurotransmitter release (By similarity). May participate in
    cell junction dynamics in Sertoli cells (By similarity)

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity NAS9030196
    GO:0005102receptor binding IPI18346465
    GO:0005525GTP binding IEA--
    GO:0019003GDP binding IDA--
    GO:0030911TPR domain binding IEA--
         
    RAB8B for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-548j hsa-miR-3678-3p hsa-miR-300 hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-519a hsa-miR-149
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB8B


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics1.00
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RAB8B
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Germ Cell-Sertoli Cell Junction Dynamics


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB8B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/60 Interacting proteins for RAB8B (Q929303 ENSP000003127344) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GDI2P503953, ENSP000003695384I2D: score=7 STRING: ENSP00000369538
    ACTBP607093, ENSP000003499604I2D: score=2 STRING: ENSP00000349960
    RAB3IPQ96QF03, ENSP000003680864I2D: score=2 STRING: ENSP00000368086
    CDH2P190223, ENSP000002691414I2D: score=1 STRING: ENSP00000269141
    JUPP149233, ENSP000003111134I2D: score=1 STRING: ENSP00000311113
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process NAS9030196
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport NAS--
    GO:0031346positive regulation of cell projection organization IEA--
    GO:0034332adherens junction organization ISS--

    RAB8B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAB8B

    2 DrugBank Compounds for RAB8B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Diphosphate-- 146-91-8target--17139284 17016423 10592235
    Phosphoaminophosphonic Acid Guanylate Ester-- --target--17139284 17016423 10592235

    Search CenterWatch for drugs/clinical trials and news about RAB8B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAB8B gene: 
    NM_016530.2  

    Unigene Cluster for RAB8B:

    RAB8B, member RAS oncogene family
    Hs.389733  [show with all ESTs]
    Unigene Representative Sequence: NM_016530
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321437(uc002alz.3 uc010uih.2) ENST00000558990 ENST00000558119
    ENST00000559927 ENST00000559006 ENST00000448330

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    hsa-miR-548j hsa-miR-3678-3p hsa-miR-300 hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-519a hsa-miR-149
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    Additional cDNA sequence: 

    AB038995.1 AK001111.1 AK095444.1 AK297598.1 AL133607.1 AL713722.1 AL833365.1 BC020654.1 
    U66624.1 

    8 DOTS entries:

    DT.107660  DT.100796552  DT.95290899  DT.100796557  DT.100705723  DT.100796553  DT.100796554  DT.95139038 

    24/209 AceView cDNA sequences (see all 209):

    BX494980 AI261827 BX956689 BU192097 CF138553 CB215298 CD364456 AL833365 
    CB960099 AI831982 BC020654 BG536384 AA377347 AW629477 BU520819 AA703019 
    BQ719944 BU632165 N34690 AA362265 AI206228 AW503673 AI610982 CA454266 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB8B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTTAATCT
    RAB8B Expression
    About this image
    See RAB8B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB8B

    SOURCE GeneReport for Unigene cluster: Hs.389733
        SABiosciences Custom PCR Arrays for RAB8B

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAB8B gene from 6/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAB8B1 RAB8B, member RAS oncogene family 87.39(n)
    97.3(a)
      415371  XM_413757.3  XP_413757.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab8b1 RAB8B, member RAS oncogene family 80.19(n)
    94.2(a)
      100093706  NM_001099259.1  NP_001092729.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab86
    Rab-protein 8
    79(a)
    1 → many
    3L(19860588-19864178)
    worm
    (Caenorhabditis elegans)
    Secernentea rab-86
    RAB family member (rab-8)
    73(a)
    1 → many
    I(3682896-3684121)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RABE1e1 RAB GTPase-like protein E1E 64.24(n)
    64.06(a)
      820148  NM_111825.3  NP_187601.1 
    rice
    (Oryza sativa)
    Liliopsida AK104346.12   -- 72.37(n)    AK104346.1 


    ENSEMBL Gene Tree for RAB8B (if available)
    TreeFam Gene Tree for RAB8B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB8B gene
    RAB102  RAB192  RAB432  RAB182  RAB262  RAB8A2  RAB372  RAB352  
    RAB1B2  RAB122  RAB302  RAB1A2  RAB132  
    18/116 SIMAP similar genes for RAB8B using alignment to 6 protein entries:     RAB8B_HUMAN (see all proteins) (see all similar genes):
    RAB8A    RAB10    rab1b    RAB13    RAB3C    DKFZp686J06205
    RAB3A    RAB1C    RAB3D    RAB15    RAB1A    RAB3B
    DKFZp686J07132    RAB35    RAB43    RAB1B    RAB30    RAB19

    RAB8B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RAB8B
    PGOHUM00000262037


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1309 NCBI SNPs in RAB8B are shown (see all 1309    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1442953411,2
    --63479768(+) TTTTTA/GAAAAG 1 -- us2k10--------
    rs1487400201,2
    --63479825(+) AGGAAC/TGAGGA 1 -- us2k10--------
    rs1924006721,2
    --63479920(+) GGCTCA/GGCCTG 1 -- us2k10--------
    rs349605421,2
    C,F--63479962(+) GCAGAC/TACTGT 1 -- us2k18Minor allele frequency- T:0.17NA WA EA 546
    rs1832490171,2
    --63479993(+) TTTGTC/TCCTAT 1 -- us2k10--------
    rs1161120211,2
    F--63480010(+) GACTCT/AAGGAA 1 -- us2k11Minor allele frequency- A:0.10WA 118
    rs1422883041,2
    --63480213(+) ACACAG/TTATGT 1 -- us2k10--------
    rs2001507731,2
    --63480265(+) GGTTT-/CTTCCC 1 -- us2k10--------
    rs1814336511,2
    C--63480266(+) GGTTTC/TTCCCC 1 -- us2k10--------
    rs711311471,2
    C--63480268(-) GGGGG-/GAAAAA 1 -- us2k12Minor allele frequency- G:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for RAB8B (63481668 - 63559981 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for RAB8B
         2 CNVs: 66819 72264

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    RAB8B for disorders           About GeneDecksing

    OMIM gene information: 613532    OMIM disorders: --

    1 disease for RAB8B:    About MalaCards
    melanoma

    Human Genome Epidemiology (HuGE) Navigator: RAB8B (1 document)

    Export disorders for RAB8B 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 RAB8B gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with RAB8B)
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    1. RAB GTPases expressed in human melanoma cells. (PubMed id 9030196)1, 2, 3 Chen D.... Gahl W.A. (1997)
    2. Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form. (PubMed id 18772196)1, 3 Heidrych P....Blin N. (2008)
    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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport. (PubMed id 12221131)1, 2 Hattula K....Peranen J. (2002)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PubMed id 21255211)2 Seto S.... Koide Y. (2011)
    8. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51762 HGNC: 30273 AceView: RAB8B Ensembl:ENSG00000166128 euGenes: HUgn51762
    ECgene: RAB8B H-InvDB: RAB8B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAB8B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB8B Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAB8B gene:
    Search GeneIP for patents involving RAB8B

    GeneCards and IP:
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