Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TBC1D30 Gene

protein-coding   GIFtS: 46
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

TryGeneCards Plus

Aliases
TBC1 Domain Family, Member 301 2
KIAA09843 5
TBC1 Domain Family Member 302

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

TryGeneCards Plus

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for TBC1D30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TBC30_HUMAN, Q9Y2I9 (See protein sequence)
Recommended Name: TBC1 domain family member 30  
Size: 924 amino acids; 102743 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBC1D30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    TBC1D30 Human Recombinant Protein Products:

    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TBC1D30
    GenScript Custom Purified and Recombinant Proteins Services for TBC1D30
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBC1D30

    TBC1D30 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 TBC1D30
    Novus Biologicals TBC1D30 Antibodies
    Abcam antibodies for TBC1D30
    Cloud-Clone Corp. Antibodies for TBC1D30
    Search ThermoFisher Antibodies for TBC1D30
    Search LSBio for Antibodies for TBC1D30

    TBC1D30 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TBC1D30
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TBC1D30
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TBC1D30
    Cloud-Clone Corp. CLIAs for TBC1D30


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

    TryGeneCards Plus
    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    TBC1D30 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBC1D30
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TBC1D30

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBC1D30
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBC1D30

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBC1D30:
    hsa-mir-98-5p (MIRT027743)

    Block miRNA regulation of human, mouse, rat TBC1D30 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBC1D30 (see all 80):
    hsa-miR-124* hsa-miR-3678-3p hsa-miR-579 hsa-miR-3653 hsa-miR-759 hsa-miR-3613-3p hsa-miR-3148 hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TBC1D30
    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D30

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TBC1D30

    Clone
    Products:
         
    OriGene clones in human, mouse for TBC1D30 (see all 7)
    OriGene ORF clones in mouse, rat for TBC1D30
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBC1D30 (NM_015279)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D30
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D30

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TBC1D30
    Browse ESI BIO Cell Lines and PureStem Progenitors for TBC1D30 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D30


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    TBC30_HUMAN, Q9Y2I9: Cell membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    TBC1D30 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBC1D30
    Interactions:

        Search GeneGlobe Interaction Network for TBC1D30

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TBC1D30 (ENSP000002290884) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK12ENSP000003988804STRING: ENSP00000398880
    CDK13ENSP000001818394STRING: ENSP00000181839
    MAD2L1ENSP000002965094STRING: ENSP00000296509
    RNF8ENSP000003625784STRING: ENSP00000362578
    SLMAPENSP000002959514STRING: ENSP00000295951
    About this table

    Gene Ontology (GO): 1 biological process term:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat TBC1D30 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBC1D30 (see all 80):
    hsa-miR-124* hsa-miR-3678-3p hsa-miR-579 hsa-miR-3653 hsa-miR-759 hsa-miR-3613-3p hsa-miR-3148 hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TBC1D30
    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D30
    Clone
    Products:
         
    OriGene clones in human, mouse for TBC1D30 (see all 7)
    OriGene ORF clones in mouse, rat for TBC1D30
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBC1D30 (NM_015279)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D30
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D30
    Primer
    Products:
        
    Browse OriGene qPCR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBC1D30
      QuantiTect SYBR Green Assays in human, mouse, rat TBC1D30
      QuantiFast Probe-based Assays in human, mouse, rat TBC1D30

    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 

    Selected AceView cDNA sequences (see all 62):

    F10032 AI686422 BM987772 BE466768 F02811 AA858183 BE042973 CK825272 
    Z38841 CK825271 AI802074 BU607804 AB023201 BU753449 AW151449 AK055404 
    BM310544 BX118722 CB136408 R60625 Z43424 H08851 AW629209 BF001669 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    TBC1D30 expression in normal human tissues (normalized intensities)
    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
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
    TBC1D30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D30 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.192492
        Custom PCR Arrays for TBC1D30
    Primer
    Products:
    Browse OriGene qPCR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBC1D30
    QuantiTect SYBR Green Assays in human, mouse, rat TBC1D30
    QuantiFast Probe-based Assays in human, mouse, rat TBC1D30
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TBC1D30 gene from Selected species (see all 15)    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 76.52(n)
    81(a)
      417830  XM_416071.4  XP_416071.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D306
    TBC1 domain family, member 30
    64(a)
    1 ↔ 1
    5(50263893-50330161)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tbc1d301 TBC1 domain family, member 30 70.63(n)
    75.07(a)
      734068  NM_001045744.1  NP_001039209.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbc1d301 TBC1 domain family, member 30 66.1(n)
    67.23(a)
      569334  XM_005164497.1  XP_005164554.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427956
    --
    9(a)
    1 ↔ 1
    3R(6051476-6076999)
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-196
    tbc-96
    Protein TBC-19 (tbc-19) mRNA, complete cds
    Protein TBC-9, isoform a (tbc-9) mRNA, complete cd...
    8(a)
    7(a)
    many ↔ many
    many ↔ many
    X(14003019-14012595) WBGene00007849
    IV(13476935-13502852) WBGene00012868
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDR16
    Cytoplasmic GTPase-activating protein for Ypt/Rab ...
    10(a)
    1 → many
    VII(690245-693097) YGR100W


    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

    TryGeneCards Plus
    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for TBC1D30 (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
    Site Specific Mutation Identification with 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

    TryGeneCards Plus
    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

    TryGeneCards Plus

    PubMed articles for TBC1D30 gene integrated from 10 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 standardized cognitive tests. (PubMed id 20125193)1, 4 Cirulli E.T....Goldstein D.B. (Eur. J. Hum. Genet. 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. (Genes Cells 2009)
    3. Functional dissection of Rab GTPases involved in primary cilium formation. (PubMed id 17646400)1, 3 Yoshimura S....Barr F.A. (J. Cell Biol. 2007)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PubMed id 12618308)1, 3 Bernards A. (Biochim. Biophys. Acta 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. (DNA Res. 1999)
    7. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 23329 HGNC: 29164 AceView: KIAA0984 Ensembl:ENSG00000111490 euGenes: HUgn23329
    ECgene: TBC1D30 H-InvDB: TBC1D30

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0984

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TBC1D30  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TBC1D30  
     Browse OriGene qSTAR qPCR primer pairs   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TBC1D30   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TBC1D30   OriGene Custom Protein Services for TBC1D30  

     
     
     Block miRNA regulation of human, mouse, rat TBC1D30 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TBC1D30
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D30 Predesigned siRNA for gene silencing in human, mouse, rat TBC1D30
     QuantiFast Probe-based Assays in human, mouse, rat TBC1D30 QuantiTect SYBR Green Assays in human, mouse, rat TBC1D30
     Custom PCR Arrays for TBC1D30 Search Chromatin IP Primers for TBC1D30
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBC1D30  Search GeneGlobe Interaction Network for TBC1D30
     Regulatory tfbs in TBC1D30 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TBC1D30 GenScript cDNA clones with any tag delivered in your preferred vector for TBC1D30
     GenScript Custom Assay Services for TBC1D30 GenScript Custom overexpressing Cell Line Services for TBC1D30
     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

     Search Tocris compounds for TBC1D30 (TBC30)
     Browse Sino Biological Proteins
     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
     TBC1D30 antibodies
     Antibodies for TBC1D30
     See all of Abcam's Antibodies, Kits and Proteins for TBC1D30
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TBC1D30
     Antibodies for TBC1D30
     ELISAs for TBC1D30
     CLIAs for TBC1D30



     Browse ESI BIO Cell Lines and PureStem Progenitors for TBC1D30
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D30
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TBC1D30
     Browse SwitchGear Promoter luciferase reporter plasmids for TBC1D30
     Search ThermoFisher Antibodies for TBC1D30
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D30
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBC1D30
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TBC1D30
     Search LSBio for Antibodies for TBC1D30
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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      TBC1D30 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4