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

TBC1D12 Gene

protein-coding   GIFtS: 39
GCID: GC10P096152

TBC1 Domain Family, Member 12

  Search for TBC1D12
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 121 2
TBC1 Domain Family Member 122
KIAA06083

External Ids:    HGNC: 290821   Entrez Gene: 232322   Ensembl: ENSG000001082397   UniProtKB: O603473   

Export aliases for TBC1D12 gene to outside databases

Previous GC identifers: GC10P095827 GC10P089788


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

GeneCards Summary for TBC1D12 Gene: 
TBC1D12 (TBC1 domain family, member 12) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D4.

UniProtKB/Swiss-Prot: TBC12_HUMAN, O60347
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_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D12 gene promoter:
         TBP   RFX1   Pax-5   c-Myb   AP-4   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TBC1D12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D12


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

Entrez Gene cytogenetic band: 10q23.33   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q23.33

TBC1D12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D12 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P096152:  view genomic region     (about GC identifiers)

Start:
96,162,186 bp from pter      End:
96,296,089 bp from pter
Size:
133,904 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: TBC12_HUMAN, O60347 (See protein sequence)
Recommended Name: TBC1 domain family member 12  
Size: 775 amino acids; 85626 Da
Sequence caution: Sequence=BAA25534.1; Type=Erroneous initiation; Sequence=CAB43225.2; Type=Erroneous initiation;
Secondary accessions: Q5VYA6 Q8WX26 Q8WX59 Q9UG83

Explore the universe of human proteins at neXtProt for TBC1D12: NX_O60347

Explore proteomics data for TBC1D12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60347

  • TBC1D12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D12 Protein Expression
    REFSEQ proteins: NP_056003.1  
    ENSEMBL proteins: 
     ENSP00000225235  

    Human Recombinant Protein Products for TBC1D12: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBC1D12 

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

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

    TBC1D12 for ontologies           About GeneDecksing



    TBC1D12 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry O60347

    ProtoNet protein and cluster: O60347

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TBC12_HUMAN, O60347
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D12 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: TBC12_HUMAN, O60347
    Function: May act as a GTPase-activating protein for Rab family protein(s)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    TBC1D12 for ontologies           About GeneDecksing


    Animal Models:
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D12


    (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 TBC1D12

    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 ----

    TBC1D12 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 TBC1D12 (TBC12)

    Search CenterWatch for drugs/clinical trials and news about TBC1D12 / TBC12

    (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 TBC1D12 gene: 
    NM_015188.1  

    Unigene Cluster for TBC1D12:

    TBC1 domain family, member 12
    Hs.500598  [show with all ESTs]
    Unigene Representative Sequence: NM_015188
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225235(uc001kjr.2) ENST00000485048 ENST00000457045
    miRNA
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    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate TBC1D12 (see all 88):
    hsa-miR-548j hsa-miR-579 hsa-miR-642a hsa-miR-607 hsa-miR-519a hsa-miR-3613-3p hsa-miR-548a-5p hsa-miR-376c
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TBC1D12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D12
    Clone
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    OriGene clones in human, mouse for TBC1D12 (see all 7)
    OriGene ORF clones in mouse, rat for TBC1D12
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    GenScript: all cDNA clones in your preferred vector: TBC1D12 (NM_015188)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D12
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D12
    Sirion Biotech Customized lentivirus for stable overexpression of TBC1D12 
                         Customized lentivirus expression plasmids for stable overexpression of TBC1D12 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D12

    Additional mRNA sequence: 

    AB011180.1 AB449898.1 AJ404330.1 AK090865.1 AL049956.1 BC064323.1 

    4 DOTS entries:

    DT.85105340  DT.97771689  DT.100772148  DT.95371392 

    24/96 AceView cDNA sequences (see all 96):

    BE768105 AA346633 AB011180 AL703252 AW451225 Z42723 BG260325 AI277581 
    BU686951 AW948925 BM670728 CB053712 Z45049 AI684784 F04292 AV728684 
    AA693384 BX105596 AI733561 AW662906 AW952386 F08056 BC064323 AA424602 

    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

    TBC1D12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTGTTTC
    TBC1D12 Expression
    About this image


    See TBC1D12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D12

    SOURCE GeneReport for Unigene cluster: Hs.500598
        SABiosciences Custom PCR Arrays for TBC1D12
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TBC1D12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D12

    (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 TBC1D12 gene from 7/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d121 , 5 TBC1D12: TBC1 domain family, member 121, 5 85.24(n)1
    85.96(a)1
      19 (33.47 cM)5
    2094781  NM_145952.31  NP_666064.31 
     388365795 
    chicken
    (Gallus gallus)
    Aves TBC1D121 TBC1 domain family, member 12 76.96(n)
    79.14(a)
      768541  XM_001231527.2  XP_001231528.2 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D126
    Uncharacterized protein
    91(a)
    1 ↔ 1
    GL343219.1(1266016-1303090)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL891833.22   -- 80(n)    AL891833.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003320881 TBC1 domain family member 12-like 67.54(n)
    75.5(a)
      100332088  XM_002663912.2  XP_002663958.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-126
    Protein TBC-12
    29(a)
    1 → many
    X(2525722-2532657)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GYL16
    GYP56
    Putative GTPase activating protein (GAP) with a ro...
    GTPase-activating protein (GAP) for yeast Rab fami...
    9(a)
    8(a)
    many ↔ many
    many ↔ many
    XIII(647118-649280)
    XVI(76669-79353)


    ENSEMBL Gene Tree for TBC1D12 (if available)
    TreeFam Gene Tree for TBC1D12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D12 gene
    TBC1D42  TBC1D142  RABGAP1L2  TBC1D12  EVI52  EVI5L2  RABGAP12  
    1 SIMAP similar gene for TBC1D12 using alignment to 2 protein entries:     TBC12_HUMAN (see all proteins):
    TBC1D14

    TBC1D12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TBC1D12
    PGOHUM00000242158


    (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

    10/2446 SNPs in TBC1D12 are shown (see all 2446)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357995191,2
    C--89870596(+) TTTTT-/T/TT  
            
    GAGGT
    1 -- int11NA 2
    rs1490363351,2
    --96160410(+) CATTTC/TATTAT 1 -- us2k10--------
    rs1430758671,2
    C--96160411(+) ATTTTA/GTTATA 1 -- us2k10--------
    rs587763361,2
    C,F--96160574(+) TATATA/GCTTTT 1 -- us2k12Minor allele frequency- G:0.09WA 120
    rs1814562231,2
    --96160678(+) GAAACA/CTTTGG 1 -- us2k10--------
    rs1865723571,2
    --96160812(+) TTTTAC/TTATTT 1 -- us2k10--------
    rs1903438571,2
    --96161409(+) TGACCA/GCTTCC 1 -- us2k10--------
    rs1482327331,2
    --96161484(+) CTGGAC/GTGCAG 1 -- us2k10--------
    rs1419344041,2
    --96161485(+) TGGAGA/TGCAGT 1 -- us2k10--------
    rs1815960741,2
    --96161613(+) TATTTC/TTAGTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBC1D12 (96162186 - 96296089 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for TBC1D12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv4632CNV Deletion18987735
    esv5036CNV Deletion18987735
    esv2658991CNV Deletion23128226
    esv2673369CNV Deletion23128226
    esv2664667CNV Deletion23128226
    esv2739684CNV Deletion23290073
    esv2739696CNV Deletion23290073
    nsv831946CNV Loss17160897
    esv25061CNV Loss19812545

    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, 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 TBC1D12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TBC1D12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (1998)
    2. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    3. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    4. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1 Ishibashi K.... Fukuda M. (2009)
    5. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (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)

    (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: 23232 HGNC: 29082 AceView: TBC1D12 Ensembl:ENSG00000108239 euGenes: HUgn23232
    ECgene: TBC1D12 H-InvDB: TBC1D12

    (According to HUGE)
    About This Section
    HUGE: KIAA0608

    (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 TBC1D12 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 TBC1D12 gene:
    Search GeneIP for patents involving TBC1D12

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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