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

TBC1D8B Gene

protein-coding   GIFtS: 42
GCID: GC0XP106045

TBC1 Domain Family, Member 8B (With GRAM Domain)

  Search for TBC1D8B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 8B (With GRAM Domain)1 2
RP11-321G1.12
TBC1 Domain Family Member 8B2

External Ids:    HGNC: 247151   Entrez Gene: 548852   Ensembl: ENSG000001331387   UniProtKB: Q0IIM83   

Export aliases for TBC1D8B gene to outside databases

Previous GC identifers: GC0XP105932 GC0XP095673


(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 TBC1D8B Gene:
This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have
been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2011)

GeneCards Summary for TBC1D8B Gene: 
TBC1D8B (TBC1 domain family, member 8B (with GRAM domain)) is a protein-coding gene. Among its related super-pathways are Golgi Associated Vesicle Biogenesis and Translocation of GLUT4 to the Plasma Membrane. GO annotations related to this gene include Rab GTPase activator activity and calcium ion binding. An important paralog of this gene is TBC1D2.

UniProtKB/Swiss-Prot: TBC8B_HUMAN, Q0IIM8
Function: May act as a GTPase-activating protein for Rab family protein(s)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D8B gene promoter:
         Spz1   AP-1   Pax-2   Pax-2a   E4BP4   E47   Evi-1   Pax-2b   HFH-1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D8B promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D8B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D8B


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

Entrez Gene cytogenetic band: Xq22.3   Ensembl cytogenetic band:  Xq22.3   HGNC cytogenetic band: Xq22.3

TBC1D8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D8B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP106045:  view genomic region     (about GC identifiers)

Start:
106,045,910 bp from pter      End:
106,119,380 bp from pter
Size:
73,471 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBC8B_HUMAN, Q0IIM8 (See protein sequence)
Recommended Name: TBC1 domain family member 8B  
Size: 1120 amino acids; 128709 Da
Sequence caution: Sequence=BAA91071.1; Type=Erroneous initiation;
Secondary accessions: B9A6K5 B9A6K6 Q5JRB7 Q6ZVX5 Q9NXE3
Alternative splicing: 3 isoforms:  Q0IIM8-1   Q0IIM8-2   Q0IIM8-3   

Explore the universe of human proteins at neXtProt for TBC1D8B: NX_Q0IIM8

Explore proteomics data for TBC1D8B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q0IIM8

  • TBC1D8B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D8B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_060222.2  NP_942582.1  

    ENSEMBL proteins: 
     ENSP00000349781   ENSP00000310675   ENSP00000421375   ENSP00000276175   ENSP00000422353  
     ENSP00000396440  
    Reactome Protein details: Q0IIM8
    Human Recombinant Protein Products for TBC1D8B: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----

    TBC1D8B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR000195 Rab-GTPase-TBC_dom
     IPR004182 GRAM

    Graphical View of Domain Structure for InterPro Entry Q0IIM8

    ProtoNet protein and cluster: Q0IIM8

    UniProtKB/Swiss-Prot: TBC8B_HUMAN, Q0IIM8
    Similarity: Contains 1 EF-hand domain
    Similarity: Contains 2 GRAM domains
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D8B for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBC8B_HUMAN, Q0IIM8
    Function: May act as a GTPase-activating protein for Rab family protein(s)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005509calcium ion binding IEA--
         
    TBC1D8B for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBC1D8B 
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    hsa-miR-411* hsa-miR-142-5p hsa-miR-579 hsa-miR-520e hsa-miR-302d hsa-miR-379* hsa-miR-106a hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D8B 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TBC1D8B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    2Membrane Trafficking
    Membrane Trafficking0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for TBC1D8B
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding



    TBC1D8B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D8B

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TBC1D8B (ENSP000002761754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----

    TBC1D8B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TBC1D8B (TBC8B)

    Search CenterWatch for drugs/clinical trials and news about TBC1D8B / TBC8B

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBC1D8B gene (2 alternative transcripts): 
    NM_017752.2  NM_198881.1  

    Unigene Cluster for TBC1D8B:

    TBC1 domain family, member 8B (with GRAM domain)
    Hs.351798  [show with all ESTs]
    Unigene Representative Sequence: NM_017752
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357242(uc004emo.3) ENST00000310452(uc004emn.3) ENST00000481617(uc004emm.3)
    ENST00000276175 ENST00000460545 ENST00000431860 ENST00000492970
    miRNA
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    hsa-miR-411* hsa-miR-142-5p hsa-miR-579 hsa-miR-520e hsa-miR-302d hsa-miR-379* hsa-miR-106a hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D8B 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB449890.1 AB449891.1 AK000305.1 AK091248.1 AK123957.1 AK225310.1 BC017978.2 BC122564.1 
    BX648230.1 U96192.1 

    5 DOTS entries:

    DT.209723  DT.40207248  DT.454390  DT.97818019  DT.95215283 

    24/50 AceView cDNA sequences (see all 50):

    AK123957 AI094150 AK091248 BC017978 AI380819 U96192 AA294985 NM_198881 
    BQ014086 AX746875 AW172431 AA287032 BU508103 AW612930 AI983678 NM_017752 
    BE876886 CB852250 CA941473 CA941751 AI743568 AI982642 AW466372 AI453557 

    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

    TBC1D8B expression in normal human tissues (normalized intensities)      TBC1D8B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBC1D8B Expression
    About this image


    TBC1D8B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Breast (Uncategorized)    fully expand to see all 2 entries
             breast epithelium   
     
     Colon (Gastrointestinal Tract)
             rectum mucosa   
     
     Adrenal Gland (Endocrine System)
             adrenal cortex   
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Epithelium
             breast epithelium   

    See TBC1D8B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D8B

    SOURCE GeneReport for Unigene cluster: Hs.351798
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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 animals and fungi.

    Orthologs for TBC1D8B gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d8b1 , 5 TBC1 domain family, member 8B1, 5 89.44(n)1
    91.02(a)1
      X (61.35 cM)5
    2456381  NM_001081499.21  NP_001074968.11 
     1396849965 
    chicken
    (Gallus gallus)
    Aves TBC1D8B1 TBC1 domain family, member 8B (with GRAM domain) 76.5(n)
    79.26(a)
      422383  XM_420352.3  XP_420352.2 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D8B6
    TBC1 domain family, member 8B (with GRAM domain)
    69(a)
    1 ↔ 1
    GL343842.1(60075-72580)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG364198.12   -- 77.44(n)    BG364198.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570481632   -- 71.42(n)    57048163 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73246
    --
    27(a)
    1 → many
    3L(21330781-21336816)
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-96
    Protein TBC-9, isoform c
    29(a)
    1 → many
    IV(13476935-13502852)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDR16
    Cytoplasmic GTPase-activating protein for Ypt/Rab ...
    20(a)
    1 → many
    VII(690245-693097)


    ENSEMBL Gene Tree for TBC1D8B (if available)
    TreeFam Gene Tree for TBC1D8B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D8B gene
    TBC1D22  TBC1D302  SGSM32  TBC1D2B2  TBC1D9B2  TBC1D82  TBC1D92  
    9 SIMAP similar genes for TBC1D8B using alignment to 6 protein entries:     TBC8B_HUMAN (see all proteins):
    TBC1D9    TBC1D8    TBC1D9B    SGSM3    FLJ00006    GRTP1
    TBC1D10A    TBC1D6    FLJ00288

    TBC1D8B for paralogs           About GeneDecksing



    (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) 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

    10/969 SNPs in TBC1D8B are shown (see all 969)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842622271,2
    C--106016086(+) GGGTAC/TACCTG 2 -- us2k10--------
    rs1891732731,2
    --106016255(+) TTTGCC/TACATT 2 -- us2k10--------
    rs1815770961,2
    --106016381(+) TCCAAA/GCTGTC 2 -- us2k10--------
    rs732479601,2
    C--106016453(+) TTTCTT/CATTCA 2 -- us2k11Minor allele frequency- C:0.00NA 1
    rs1856507371,2
    C--106016719(+) AATTCC/TGGTGG 2 -- us2k10--------
    rs1891878881,2
    --106016741(+) GCAATA/TAATAA 2 -- us2k10--------
    rs1815076461,2
    --106016911(+) TAAATG/TGTTTA 2 -- us2k10--------
    rs1479870821,2
    --106017136(+) GACCTC/TGGATA 2 -- us2k10--------
    rs101262661,2
    C--106017160(+) gacagC/Tgcttt 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs101268761,2
    C,F,H--106017284(+) CTGCTA/GCTTCC 2 -- us2k1 tfbs38Minor allele frequency- G:0.19NS NA WA 896

    HapMap Linkage Disequilibrium report for TBC1D8B (106045910 - 106119380 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TBC1D8B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740375CNV Deletion23290073
    esv2752312CNV Gain17911159


    Locus Specific Mutation Databases (LSDB): TBC1D8B
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for TBC1D8B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TBC1D8B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1, 2 Ishibashi K.... Fukuda M. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1, 3 Bonaldo M.F.... Soares M.B. (1996)
    4. Common genetic variants in the CLDN2 and PRSS1-PRSS2 l oci alter risk for alcohol-related and sporadic pancreatitis. (PubMed id 23143602)1 Whitcomb D.C....Devlin B. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54885 HGNC: 24715 AceView: FLJ20298 Ensembl:ENSG00000133138 euGenes: HUgn54885
    ECgene: TBC1D8B H-InvDB: TBC1D8B

    (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 TBC1D8B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBC1D8B gene:
    Search GeneIP for patents involving TBC1D8B

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



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