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

TBC1D30 Gene

protein-coding   GIFtS: 44
GCID: GC12P065174

TBC1 Domain Family, Member 30

  Search for TBC1D30
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 301 2
TBC1 Domain Family Member 302
KIAA09843

External Ids:    HGNC: 291641   Entrez Gene: 233292   Ensembl: ENSG000001114907   OMIM: 6150775   UniProtKB: Q9Y2I93   

Export aliases for TBC1D30 gene to outside databases

Previous GC identifers: GC12P063460 GC12P062225


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

GeneCards Summary for TBC1D30 Gene: 
TBC1D30 (TBC1 domain family, member 30) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D2.

UniProtKB/Swiss-Prot: TBC30_HUMAN, Q9Y2I9
Function: GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits
significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro




(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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D30 gene promoter:
         ER-alpha   LHX3b/Lhx3b   C/EBPbeta   Pax-5   AML1a   p300   HNF-4alpha1   SRY   LHX3a/Lhx3a   IRF-7A   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TBC1D30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D30


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

Entrez Gene cytogenetic band: 12q14.3   Ensembl cytogenetic band:  12q14.3   HGNC cytogenetic band: 12q14.3

TBC1D30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D30 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P065174:  view genomic region     (about GC identifiers)

Start:
65,174,589 bp from pter      End:
65,274,812 bp from pter
Size:
100,224 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: TBC30_HUMAN, Q9Y2I9 (See protein sequence)
Recommended Name: TBC1 domain family member 30  
Size: 924 amino acids; 102743 Da
Subcellular location: Cell membrane; Peripheral membrane protein
Sequence caution: Sequence=BAA76828.1; Type=Erroneous initiation;
Secondary accessions: B3KP01 B9A6M9 E7EMW4 F5GYJ9
Alternative splicing: 3 isoforms:  Q9Y2I9-1   Q9Y2I9-2   Q9Y2I9-3   

Explore the universe of human proteins at neXtProt for TBC1D30: NX_Q9Y2I9

Explore proteomics data for TBC1D30 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2I9

  • TBC1D30 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D30 Protein Expression
    REFSEQ proteins: NP_056094.1  
    ENSEMBL proteins: 
     ENSP00000440787   ENSP00000440640   ENSP00000440207   ENSP00000439897   ENSP00000442442  
     ENSP00000229088  

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    Cloud-Clone Corp. Proteins for TBC1D30 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005886plasma membrane IEA--

    TBC1D30 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
    1 InterPro protein domain:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y2I9

    ProtoNet protein and cluster: Q9Y2I9

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TBC30_HUMAN, Q9Y2I9
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D30 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: TBC30_HUMAN, Q9Y2I9
    Function: GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits
    significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro

         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--
         
    TBC1D30 for ontologies           About GeneDecksing


    Animal Models:
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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D30

    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 ----

    TBC1D30 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 TBC1D30 (TBC30)

    Search CenterWatch for drugs/clinical trials and news about TBC1D30 / TBC30

    (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 TBC1D30 gene: 
    NM_015279.1  

    Unigene Cluster for TBC1D30:

    TBC1 domain family, member 30
    Hs.192492  [show with all ESTs]
    Unigene Representative Sequence: NM_015279
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000456757 ENST00000544190 ENST00000542120(uc001ssh.2 uc010sst.2)
    ENST00000539867(uc010sss.2 uc001ssi.2) ENST00000544457 ENST00000539120
    ENST00000229088
    miRNA
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    Additional mRNA sequence: 

    AB023201.1 AB449914.1 AK055404.1 AK299508.1 AL050074.1 

    5 DOTS entries:

    DT.40267749  DT.121196237  DT.75105811  DT.75191936  DT.97810809 

    24/62 AceView cDNA sequences (see all 62):

    AB023201 Z38841 F10032 AI686422 BE466768 BM987772 AA858183 CK825272 
    F02811 BE042973 AI802074 BU607804 AK055404 CK825271 AW151449 BM310544 
    BU753449 AW104866 AW016064 AW058174 H08851 AI458698 Z43424 R60625 

    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

    TBC1D30 expression in normal human tissues (normalized intensities)      TBC1D30 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTGTACCA
    TBC1D30 Expression
    About this image


    TBC1D30 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
     
     Brain (Nervous System)    fully expand to see all 2 entries
             superior temporal gyrus   
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose

    See TBC1D30 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D30

    SOURCE GeneReport for Unigene cluster: Hs.192492
        SABiosciences Custom PCR Arrays for TBC1D30
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D30

    (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.

    Orthologs for TBC1D30 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d301 , 5 TBC1 domain family, member 301, 5 84.76(n)1
    91.72(a)1
      10 (69.12 cM)5
    746941  NM_029057.11  NP_083333.11 
     1212638245 
    chicken
    (Gallus gallus)
    Aves TBC1D301 TBC1 domain family, member 30 75.43(n)
    79.28(a)
      417830  XM_416071.3  XP_416071.2 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D306
    TBC1 domain family, member 30
    63(a)
    1 ↔ 1
    5(50263893-50330161)
    zebrafish
    (Danio rerio)
    Actinopterygii FP102892.26
    Uncharacterized protein
    42(a)
    1 ↔ 1
    4(4355685-4380319)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427956
    --
    8(a)
    1 ↔ 1
    3R(6051476-6076999)


    ENSEMBL Gene Tree for TBC1D30 (if available)
    TreeFam Gene Tree for TBC1D30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D30 gene
    TBC1D22  TBC1D8B2  SGSM32  TBC1D2B2  TBC1D9B2  TBC1D82  TBC1D92  
    1 SIMAP similar gene for TBC1D30 using alignment to 5 protein entries:     TBC30_HUMAN (see all proteins):
    SGSM3

    TBC1D30 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TBC1D30
    PGOHUM00000258680


    (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

    10/972 SNPs in TBC1D30 are shown (see all 972)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs98049981,2
    C,F--65216368(+) gacctC/Acctgg 1 -- us2k12Minor allele frequency- A:0.04WA NA 238
    rs1166011501,2
    C,F--65216436(+) ATCATG/ACCCAG 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs40450501,2
    C--65216456(+) TTTTT-/T/TT  
            
    GTAGA
    1 -- us2k11NA 2
    rs760164311,2
    F--65216605(+) ATTGTG/AAAACA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1852650441,2
    --65216610(+) GAAACA/GTTTCC 1 -- us2k10--------
    rs1394946661,2
    --65216892(+) AAAACG/TTAATT 1 -- us2k10--------
    rs1885323581,2
    C--65217181(+) GATAGA/TCCATT 1 -- us2k10--------
    rs787915161,2
    F--65217249(+) ATAATT/GTATTC 1 -- us2k11Minor allele frequency- G:0.12WA 118
    rs1927320701,2
    --65217338(+) CTAGTG/TTCAAG 1 -- us2k10--------
    rs1151758851,2
    C,F--65217362(+) TTGACT/CTCCCA 1 -- us2k11Minor allele frequency- C:0.11WA 118

    HapMap Linkage Disequilibrium report for TBC1D30 (65174589 - 65274812 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TBC1D30:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv52978CNV Loss16902084


    Human Gene Mutation Database (HGMD): TBC1D30
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D30
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D30

    (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

    TBC1D30 for disorders           About MalaCards
    OMIM gene information: 615077    OMIM disorders: --


    TBC1D30 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBC1D30

    Export disorders for TBC1D30 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 TBC1D30 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TBC1D30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common genetic variation and performance on standardi zed cognitive tests. (PubMed id 20125193)1, 4 Cirulli E.T....Goldstein D.B. (2010)
    2. 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)
    3. Functional dissection of Rab GTPases involved in primary cilium formation. (PubMed id 17646400)1, 3 Yoshimura S....Barr F.A. (2007)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PubMed id 12618308)1, 3 Bernards A. (2003)
    6. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    7. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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: 23329 HGNC: 29164 AceView: KIAA0984 Ensembl:ENSG00000111490 euGenes: HUgn23329
    ECgene: TBC1D30 H-InvDB: TBC1D30

    (According to HUGE)
    About This Section
    HUGE: KIAA0984

    (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 TBC1D30 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 TBC1D30 gene:
    Search GeneIP for patents involving TBC1D30

    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

     
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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