Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

TBC1D2 Gene

protein-coding   GIFtS: 51
GCID: GC09M100961

TBC1 Domain Family, Member 2

  See 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)
About This Section

Aliases
TBC1 Domain Family, Member 21 2     armus2
PARIS12 3 5     TBC1 Domain Family Member 2A2
Prostate Antigen Recognized And Identified By SEREX 12 3     TBC1 Domain Family, Member 2A2
PARIS-12 3     Armus3
TBC1D2A2 3     PP89973
Prostate Antigen Recognized And Identified By SEREX1     

External Ids:    HGNC: 180261   Entrez Gene: 553572   Ensembl: ENSG000000953837   OMIM: 6098715   UniProtKB: Q9BYX23   

Export aliases for TBC1D2 gene to outside databases

Previous GC identifers: GC09M091786 GC09M092704 GC09M094418 GC09M096341 GC09M098040 GC09M100001 GC09M070561


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

GeneCards Summary for TBC1D2 Gene: 
TBC1D2 (TBC1 domain family, member 2) is a protein-coding gene. Diseases associated with TBC1D2 include prostatitis, and cleft lip. GO annotations related to this gene include phospholipid binding and cadherin binding. An important paralog of this gene is TBC1D8B.

UniProtKB/Swiss-Prot: TBD2A_HUMAN, Q9BYX2
Function: Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A,
leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion




(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_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D2 gene promoter:
         HOXA9   HOXA9B   Elk-1   Sp1   CBF-A   COMP1   IRF-7A   Meis-1a   CBF(2)   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D2


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

Entrez Gene cytogenetic band: 9q22.33   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22.32

TBC1D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M100961:  view genomic region     (about GC identifiers)

Start:
100,961,280 bp from pter      End:
101,018,003 bp from pter
Size:
56,724 bases      Orientation:
minus 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: TBD2A_HUMAN, Q9BYX2 (See protein sequence)
Recommended Name: TBC1 domain family member 2A  
Size: 928 amino acids; 105414 Da
Subunit: Interacts with activated RAC1 and CDH1
Subcellular location: Cytoplasm. Cytoplasmic vesicle. Cell junction
Miscellaneous: 'Armus' means hinge, linker in Latin and ancient Greek
Sequence caution: Sequence=CAB89247.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for TBC1D2:
2DHK (3D)    
Secondary accessions: B3KWD1 B4DQ05 B9A6J7 Q59EU0 Q5TBQ5 Q6IPC7 Q7L1K8 Q8WYT1 Q9H6A2 Q9NSH4
Alternative splicing: 6 isoforms:  Q9BYX2-1   Q9BYX2-2   Q9BYX2-3   Q9BYX2-4   Q9BYX2-5   Q9BYX2-6   

Explore the universe of human proteins at neXtProt for TBC1D2: NX_Q9BYX2

Explore proteomics data for TBC1D2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYX2

  • TBC1D2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001254500.1  NP_001254501.1  NP_060891.3  

    ENSEMBL proteins: 
     ENSP00000364203   ENSP00000364205   ENSP00000341567   ENSP00000364207  

    Human Recombinant Protein Products for TBC1D2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for TBC1D2
    OriGene Protein Over-expression Lysate for TBC1D2
    OriGene MassSpec for TBC1D2 
    OriGene Custom Protein Services for TBC1D2
    GenScript Custom Purified and Recombinant Proteins Services for TBC1D2
    Novus Biologicals TBC1D2 Protein
    Novus Biologicals TBC1D2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBC1D2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0030054cell junction IDA--
    GO:0031410cytoplasmic vesicle IDA--

    TBC1D2 for ontologies           About GeneDecksing



    TBC1D2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TBC1D2
    GenScript Custom Superior Antibodies Services for TBC1D2
    Novus Biologicals TBC1D2 Antibodies
    Abcam antibodies for TBC1D2
    Cloud-Clone Corp. Antibodies for TBC1D2 
    Search ThermoFisher Antibodies for TBC1D2
    LSBio Antibodies in human, mouse, rat for TBC1D2 

    Assay Products for TBC1D2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TBC1D2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TBC1D2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TBC1D2 
    Cloud-Clone Corp. CLIAs for TBC1D2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000195 Rab-GTPase-TBC_dom
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9BYX2

    ProtoNet protein and cluster: Q9BYX2

    2 Blocks protein domains:
    IPB000195 RabGAP/TBC domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: TBD2A_HUMAN, Q9BYX2
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D2 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: TBD2A_HUMAN, Q9BYX2
    Function: Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A,
    leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IDA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0045296cadherin binding IPI--
         
    TBC1D2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TBC1D2:
     Decreased Wnt reporter activit 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBC1D2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBC1D2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBC1D2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBC1D2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBC1D2:
    hsa-mir-373 (MIRT002537)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBC1D2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate TBC1D2:
    hsa-miR-324-5p
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TBC1D2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TBC1D2
    Sirion Biotech Customized adenovirus for overexpression of TBC1D2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TBC1D2 (see all 7)
    OriGene ORF clones in mouse, rat for TBC1D2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBC1D2 (NM_002536)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D2
    Sirion Biotech Customized lentivirus for stable overexpression of TBC1D2 
                         Customized lentivirus expression plasmids for stable overexpression of TBC1D2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TBC1D2
    Search LifeMap BioReagents cell lines for TBC1D2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D2


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TBC1D2 (ENSP000003642074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL1ENSP000002664584STRING: ENSP00000266458
    MAP1LC3AENSP000003639704STRING: ENSP00000363970
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----
    GO:0032851positive regulation of Rab GTPase activity IDA--

    TBC1D2 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 TBC1D2 (TBD2A)

    Search CenterWatch for drugs/clinical trials and news about TBC1D2 / TBD2A

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 TBC1D2 gene (3 alternative transcripts): 
    NM_001267571.1  NM_001267572.1  NM_018421.3  

    Unigene Cluster for TBC1D2:

    TBC1 domain family, member 2
    Hs.371016  [show with all ESTs]
    Unigene Representative Sequence: AK124772
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375063(uc004ayp.3) ENST00000375064 ENST00000342112 ENST00000375066(uc004ayq.3 uc011lvb.2 uc004ayr.3)
    ENST00000493589 ENST00000465784
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBC1D2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate TBC1D2:
    hsa-miR-324-5p
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TBC1D2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D2
    Clone
    Products:
         
    OriGene clones in human, mouse for TBC1D2 (see all 7)
    OriGene ORF clones in mouse, rat for TBC1D2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBC1D2 (NM_002536)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D2
    Sirion Biotech Customized lentivirus for stable overexpression of TBC1D2 
                         Customized lentivirus expression plasmids for stable overexpression of TBC1D2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TBC1D2
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat TBC1D2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D2

    Additional mRNA sequence: 

    AB209721.1 AB449882.1 AF318370.1 AK026105.1 AK124772.1 AK131290.1 AK298575.1 AL353935.1 
    AY026527.1 BC028918.1 BC071978.1 NR_051978.1 

    11 DOTS entries:

    DT.97838900  DT.429817  DT.101983690  DT.92421180  DT.97838901  DT.99957932  DT.65285313  DT.100025244 
    DT.100693162  DT.100751577  DT.102828691 

    24/78 AceView cDNA sequences (see all 78):

    AA987684 BM706770 BU527859 BI518859 AA811386 BM549024 BF002029 AI683658 
    AF318370 AI089375 CO395804 AW235717 CB049235 AK026105 CN482483 BC028918 
    AY026527 BU529018 BC071978 BQ955291 BX369944 BU675337 BQ937524 BE395813 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D2 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14
    SP1:                                                              -     -     -                                                     -               
    SP2:                    -                                         -     -     -                                                                     
    SP3:                                                                                                                                                
    SP4:                                                                                                                                                
    SP5:                                                        -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for TBC1D2

    (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

    TBC1D2 expression in normal human tissues (normalized intensities)      TBC1D2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBC1D2 Expression
    About this image


    TBC1D2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Oral Cavity (Gastrointestinal Tract)
             mouth   

    See TBC1D2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D2

    SOURCE GeneReport for Unigene cluster: Hs.371016

    UniProtKB/Swiss-Prot: TBD2A_HUMAN, Q9BYX2
    Tissue specificity: Expressed in a broad range of tissues, especially in kidney, liver, lung and placenta. Also
    expressed in keratinocytes and epithelia-containing organs. Isoform 2 is differentially expressed in prostate
    normal and cancer cells (at protein level)

        SABiosciences Custom PCR Arrays for TBC1D2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TBC1D2
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat TBC1D2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D2

    (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 TBC1D2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d21 , 5 TBC1 domain family, member 21, 5 83.44(n)1
    83.41(a)1
      4 (25.04 cM)5
    3816051  NM_198664.31  NP_941066.31 
     466043905 
    chicken
    (Gallus gallus)
    Aves TBC1D21 TBC1 domain family, member 2 63.52(n)
    59.17(a)
      427374  XM_424947.3  XP_424947.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D26
    Uncharacterized protein
    52(a)
    1 ↔ 1
    GL343544.1(394018-427771)
    zebrafish
    (Danio rerio)
    Actinopterygii tbc1d21 TBC1 domain family, member 2 56.68(n)
    50.12(a)
      561110  XM_684512.5  XP_689604.5 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1248.103   -- 36(a)
    (best of 2)
      II(5824053-5827393)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G078901 RabGAP/TBC domain-containing protein 45.04(n)
    36.56(a)
      819980  NM_001084654.1  NP_001078123.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g03377001 hypothetical protein 43.06(n)
    35.94(a)
      4345310  NM_001068116.1  NP_001061581.1 


    ENSEMBL Gene Tree for TBC1D2 (if available)
    TreeFam Gene Tree for TBC1D2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D2 gene
    TBC1D8B2  TBC1D302  SGSM32  TBC1D2B2  TBC1D9B2  TBC1D82  TBC1D92  
    8 SIMAP similar genes for TBC1D2 using alignment to 1 protein entry:     TBD2A_HUMAN:
    DKFZp434O086    LOC646938    FLJ00006    TBC1D2B    SGSM3    FLJ00288
    TBC1D6    GRTP1

    TBC1D2 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

    10/1407 SNPs in TBC1D2 are shown (see all 1407)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs132940851,2
    C,F--100960929(+) GGTCAC/TAAGTG 4 -- int13Minor allele frequency- T:0.50NA 6
    rs109853951,2
    C,F,A,H--100961093(+) GCGTCC/TCGGAA 4 -- int114Minor allele frequency- T:0.05NS EA NA 1742
    rs78760581,2
    C--100961099(+) CGGAAC/TGCAGA 4 -- int10--------
    rs1932800071,2
    --100961177(+) AGGGGC/GTGGCC 4 -- int10--------
    rs125515241,2
    C,F,H--100961256(+) GCACCG/ATGGGC 4 -- int12Minor allele frequency- A:0.07NA 124
    rs1825603791,2
    --100961296(+) TGTTTA/GAGTTC 4 -- ut31 nc-transcript-variant0--------
    rs1149649181,2
    C,F--100961353(+) ATAACC/TTAGAG 4 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.03WA 118
    rs1880261961,2
    --100961407(+) ACATGC/GCAAAG 4 -- ut31 nc-transcript-variant0--------
    rs1923345841,2
    --100961510(+) TGTCCC/GAGTGG 4 -- ut31 nc-transcript-variant0--------
    rs1838800201,2
    C--100961653(+) GGGGAG/TGTGGC 4 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for TBC1D2 (100961280 - 101018003 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TBC1D2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738820CNV Deletion23290073
    esv2656892CNV Deletion23128226
    esv2738819CNV Deletion23290073
    esv2673798CNV Deletion23128226
    esv2643659CNV Deletion19546169
    esv24927CNV Loss19812545
    nsv831663CNV Loss17160897
    nsv520067CNV Gain19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D2
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D2

    (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
    OMIM gene information: 609871    OMIM disorders: --

    3 diseases for TBC1D2:    About MalaCards
    prostatitis    cleft lip    prostate cancer


    TBC1D2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBC1D2
    Human Genome Epidemiology (HuGE) Navigator: TBC1D2 (2 documents)

    Export disorders for TBC1D2 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)
    About This Section

    PubMed articles for TBC1D2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with TBC1D2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Serological cloning of PARIS-1: a new TBC domain-containing, immunogenic tumor antigen from a prostate cancer cell line. (PubMed id 11785977)1, 2, 9 Zhou Y....Salgaller M.L. (2002)
    2. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1, 4 Letra A....Vieira A.R. (2010)
    3. 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)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The TBC/RabGAP Armus coordinates Rac1 and Rab7 functio ns during autophagy. (PubMed id 23562278)1 Carroll B....Braga V.M. (2013)
    6. miR-17-5p regulates endocytic trafficking through targ eting TBC1D2/Armus. (PubMed id 23285084)1 Serva A....Starkuviene V. (2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Rab GTPase-activating proteins in autophagy: regulatio n of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PubMed id 22354992)1 Popovic D....Dikic I. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55357 HGNC: 18026 AceView: TBC1D2 Ensembl:ENSG00000095383 euGenes: HUgn55357
    ECgene: TBC1D2 H-InvDB: TBC1D2

    (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 TBC1D2 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 TBC1D2 gene:
    Search GeneIP for patents involving TBC1D2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TBC1D2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for TBC1D2  
     OriGene MassSpec something-or-other for TBC1D2   OriGene clones in human, mouse for TBC1D2  
     OriGene qSTAR qPCR primer pairs in human, mouse for TBC1D2   OriGene Purified Protein for TBC1D2  
     OriGene ORF clones in mouse, rat for TBC1D2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TBC1D2   OriGene Custom Protein Services for TBC1D2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBC1D2
     QIAGEN SeqTarget long-range PCR primers for resequencing TBC1D2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D2
     GenScript Custom Purified and Recombinant Proteins Services for TBC1D2 GenScript cDNA clones with any tag delivered in your preferred vector for TBC1D2
     GenScript Custom Assay Services for TBC1D2 GenScript Custom Superior Antibodies Services for TBC1D2
     GenScript Custom overexpressing Cell Line Services for TBC1D2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in TBC1D2 promoter
     Search Chromatin IP Primers for TBC1D2
     RT2 qPCR Primer Assay in human, mouse / rat TBC1D2
     Search GNC Networks for TBC1D2
     SABiosciences Custom PCR Arrays for TBC1D2
     Search Tocris compounds for TBC1D2 (TBD2A)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TBC1D2 antibodies
     TBC1D2 proteins
     TBC1D2 lysates
     Antibodies for TBC1D2
     See all of Abcam's Antibodies, Kits and Proteins for TBC1D2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for TBC1D2
     Antibodies for TBC1D2
     ELISAs for TBC1D2
     CLIAs for TBC1D2
     Search LifeMap BioReagents cell lines for TBC1D2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D2
     SwitchGear 3'UTR luciferase reporter plasmids for TBC1D2
     SwitchGear Promoter luciferase reporter plasmids for TBC1D2
     Search ThermoFisher Antibodies for TBC1D2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for TBC1D2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBC1D2
    Customized:
     lentivirus for stable overexpression of TBC1D2
     lentivirus expression plasmids for stable overexpression of TBC1D2
     adenovirus for overexpression of TBC1D2
     LSBio Antibodies in human, mouse, rat for TBC1D2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TBC1D2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4