Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TBC1D4 Gene

protein-coding   GIFtS: 64
GCID: GC13M075858

TBC1 Domain Family, Member 4

  Try our

disease database 

(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 41 2     Acrg Embryonic Lethality Minimal Region Ortholog2
Akt Substrate Of 160 KDa1 2 3     TBC (Tre-2, BUB2, CDC16) Domain-Containing Protein2
AS1602 3 5     TBC1 Domain Family Member 42
KIAA06033 5     

External Ids:    HGNC: 191651   Entrez Gene: 98822   Ensembl: ENSG000001361117   OMIM: 6124655   UniProtKB: O603433   

Export aliases for TBC1D4 gene to outside databases

Previous GC identifers: GC13M073826 GC13M069854 GC13M074795 GC13M073657 GC13M074757 GC13M056556


(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 TBC1D4 Gene:
TBC1D4 (TBC1 domain family, member 4) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D12.

UniProtKB/Swiss-Prot: TBCD4_HUMAN, O60343
Function: May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes
insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose
uptake

Gene Wiki entry for TBC1D4 Gene


(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 at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBC1D4 gene promoter:
         ER-alpha   Tal-1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   E47   GATA-1   Sox9   ZIC2/Zic2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D4 promoter sequence
   Search Chromatin IP Primers for TBC1D4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D4


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

Entrez Gene cytogenetic band: 13q22.2   Ensembl cytogenetic band:  13q22.2   HGNC cytogenetic band: 13q22.2

TBC1D4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D4 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M075858:  view genomic region     (about GC identifiers)

Start:
75,858,808 bp from pter      End:
76,056,250 bp from pter
Size:
197,443 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TBCD4_HUMAN, O60343 (See protein sequence)
Recommended Name: TBC1 domain family member 4  
Size: 1298 amino acids; 146563 Da
Sequence caution: Sequence=BAA25529.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for TBC1D4:
3QYB (3D)    
Secondary accessions: A7E2X8 B4DU25 B4E235 B6ETN8 B6ETN9 Q5W0B9 Q68D14
Alternative splicing: 5 isoforms:  O60343-1   O60343-2   O60343-3   O60343-4   O60343-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D4: NX_O60343

Explore proteomics data for TBC1D4 at MOPED

Post-translational modifications: 

  • Phosphorylated by AKT1; insulin-induced. Also phosphorylated by AMPK in response to insulin. Insulin-stimulated
    phosphorylation is required for SLC2A4/GLUT4 translocation. Has no effect on SLC2A4/GLUT4 internalization.
    Physiological hyperinsulinemia increases phosphorylation in skeletal muscle. Insulin-stimulated phosphorylation
    is reduced by 39% in type 2 diabetic patients1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBC1D4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001273587.1  NP_001273588.1  NP_055647.2  

    ENSEMBL proteins: 
     ENSP00000366863   ENSP00000396932   ENSP00000395986   ENSP00000366852   ENSP00000390654  
    Reactome Protein details: O60343

    TBC1D4 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
    OriGene Purified Protein for TBC1D4
    OriGene Protein Over-expression Lysate for TBC1D4
    OriGene MassSpec for TBC1D4
    OriGene Custom Protein Services for TBC1D4
    GenScript Custom Purified and Recombinant Proteins Services for TBC1D4
    Novus Biologicals TBC1D4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBC1D4

     
    Search eBioscience for Proteins for TBC1D4 

     
    Search antibodies-online for proteins for TBC1D4 

     
    antibodies-online peptides for TBC1D4

    TBC1D4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TBC1D4
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for TBC1D4  (AS160)
    OriGene Antibodies for TBC1D4
    OriGene Custom Antibody Services for TBC1D4
    Novus Biologicals TBC1D4 Antibodies
    Abcam antibodies for TBC1D4
    Cloud-Clone Corp. Antibodies for TBC1D4
    ThermoFisher Antibodies for TBC1D4
    antibodies-online antibodies for TBC1D4 (60 products) 

    TBC1D4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TBC1D4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TBC1D4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TBC1D4
    Cloud-Clone Corp. CLIAs for TBC1D4
    Search eBioscience for ELISAs for TBC1D4 
    antibodies-online kits for TBC1D4 (4 products) 


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

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR021785 DUF3350
     IPR000195 Rab-GTPase-TBC_dom
     IPR006020 PTB/PI_dom
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry O60343

    ProtoNet protein and cluster: O60343

    3 Blocks protein domains:
    IPB000195 RabGAP/TBC domain
    IPB006020 Phosphotyrosine interaction domain
    IPB011072 Protein kinase PKN/PRK1


    UniProtKB/Swiss-Prot: TBCD4_HUMAN, O60343
    Similarity: Contains 2 PID domains
    Similarity: Contains 1 Rab-GAP TBC domain


    Find genes that share domains with TBC1D4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBCD4_HUMAN, O60343
    Function: May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes
    insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose
    uptake

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TBC1D4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TBC1D4:
     Increased homologous recombina 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tbc1d4):
     adipose tissue  cardiovascular system  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  reproductive system 

    Find genes that share phenotypes with TBC1D4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TBC1D4: Tbc1d4tm1Lex Tbc1d4tm1.2Arte

       genOway: Develop your customized and physiologically relevant rodent model for TBC1D4

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBC1D4:
    hsa-mir-98-5p (MIRT027631), hsa-mir-19b-3p (MIRT031138), hsa-mir-30a-5p (MIRT028587)

    Block miRNA regulation of human, mouse, rat TBC1D4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBC1D4 (see all 45):
    hsa-miR-579 hsa-miR-3146 hsa-miR-300 hsa-miR-199a-3p hsa-miR-3167 hsa-miR-223 hsa-miR-9 hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TBC1D4
    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TBC1D4

    Clone
    Products:
         
    OriGene clones in human, mouse for TBC1D4 (see all 8)
    OriGene ORF clones in mouse, rat for TBC1D4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBC1D4 (NM_014832)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TBC1D4
    Browse ESI BIO Cell Lines and PureStem Progenitors for TBC1D4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D4


    (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
    TBCD4_HUMAN, O60343: Cytoplasm. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell
    line in resting and insulin-stimulated cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    plasma membrane2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0030659cytoplasmic vesicle membrane TAS--
    GO:0031988membrane-bounded vesicle ----

    Find genes that share ontologies with TBC1D4           About GenesLikeMe


    (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

    SuperPaths for TBC1D4 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Membrane Trafficking0.32
    Translocation of GLUT4 to the Plasma Membrane0.32
    2Thyroid hormone signaling pathway
    Thyroid hormone signaling pathway
    3Insulin Signaling
    Insulin Signaling
    4Insulin-mediated glucose transport
    Insulin-mediated glucose transport
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with TBC1D4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TBC1D4
        Glucose / Energy Metabolism

    3 BioSystems Pathways for TBC1D4
        Insulin Signaling
    Insulin-mediated glucose transport
    Class I PI3K signaling events mediated by Akt

    1 Reactome Pathway for TBC1D4
        Translocation of GLUT4 to the plasma membrane


    1 Kegg Pathway  (Kegg details for TBC1D4):
        Thyroid hormone signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBC1D4
    Interactions:

        GeneGlobe Interaction Network for TBC1D4

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

    Selected Interacting proteins for TBC1D4 (O603432, 3 ENSP000003668634) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3319865 I2D: score=2 STRING: ENSP00000309503
    TOPBP1Q925473, ENSP000002608104I2D: score=3 STRING: ENSP00000260810
    ZMIZ1Q9ULJ63, ENSP000003344744I2D: score=3 STRING: ENSP00000334474
    EP400Q96L913, ENSP000003742134I2D: score=2 STRING: ENSP00000374213
    NFAT5O949163, ENSP000003965384I2D: score=2 STRING: ENSP00000396538
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192vesicle-mediated transport IMP--
    GO:0031339negative regulation of vesicle fusion IEA--
    GO:0032313regulation of Rab GTPase activity ----
    GO:0032869cellular response to insulin stimulus IMP--
    GO:0061024membrane organization TAS--

    Find genes that share ontologies with TBC1D4           About GenesLikeMe



    (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 TBC1D4 (TBCD4)

    2 Novoseek inferred chemical compound relationships for TBC1D4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 58.2 5 17513702 (2), 18276765 (1), 17284447 (1)
    glucose 55.7 13 18276765 (4), 15919790 (1), 17019595 (1), 17617058 (1) (see all 9)



    Find genes that share compounds with TBC1D4           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for TBC1D4 gene (3 alternative transcripts): 
    NM_001286658.1  NM_001286659.1  NM_014832.3  

    Unigene Cluster for TBC1D4:

    TBC1 domain family, member 4
    Hs.210891  [show with all ESTs]
    Unigene Representative Sequence: NM_014832
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377636(uc001vjl.1) ENST00000478591 ENST00000493487 ENST00000413735
    ENST00000488955 ENST00000431480(uc010aer.2) ENST00000377625(uc010tht.1 uc010thu.1 uc010aes.2)
    ENST00000425511
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TBC1D4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBC1D4 (see all 45):
    hsa-miR-579 hsa-miR-3146 hsa-miR-300 hsa-miR-199a-3p hsa-miR-3167 hsa-miR-223 hsa-miR-9 hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TBC1D4
    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D4
    Clone
    Products:
         
    OriGene clones in human, mouse for TBC1D4 (see all 8)
    OriGene ORF clones in mouse, rat for TBC1D4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBC1D4 (NM_014832)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBC1D4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TBC1D4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBC1D4
      QuantiTect SYBR Green Assays in human, mouse, rat TBC1D4
      QuantiFast Probe-based Assays in human, mouse, rat TBC1D4

    Additional mRNA sequence: 

    AB011175.1 AB449885.1 AK300468.1 AK304091.1 AK307493.1 AY211910.1 BC151239.1 CR749622.1 
    FM207106.1 FM207107.1 

    11 DOTS entries:

    DT.75158750  DT.120791165  DT.97765110  DT.95255407  DT.100788997  DT.40228855  DT.100788995  DT.120791175 
    DT.120791147  DT.120791150  DT.100788993 

    Selected AceView cDNA sequences (see all 171):

    AU122714 AI146344 AA400732 AI923718 AI148129 AA905267 BI906891 BM543202 
    AW512006 AW731708 BM714236 AI475997 CA388917 AA737494 AA948362 AL695196 
    BX394086 CA432379 CF242947 AI422530 AB011175 BG576192 BG617618 AA132263 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D4 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a ·
    SP1:              -     -                                                                 -                             -           -     -                     
    SP2:                                                                                                                                                            
    SP3:                                                                                      -                 -     -     -           -     -                     
    SP4:                                                                                                        -     -     -           -     -                     
    SP5:                                                                                      -                 -     -     -                                       

    ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26
    SP1:        -                                             
    SP2:        -                 -                           
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for TBC1D4

    (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

    TBC1D4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATCGTTACA
    TBC1D4 Expression
    About this image


    TBC1D4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    TBC1D4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.210891

    UniProtKB/Swiss-Prot: TBCD4_HUMAN, O60343
    Tissue specificity: Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly
    expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is
    strongly expressed in adrenal and thyroid gland, and also in lung, kidney, colon, brain and adipose tissue.
    Isoform 2 is moderately expressed in skeletal muscle. Expressed in pancreatic Langerhans islets, including beta
    cells (at protein level). Expression is decreased by twofold in pancreatic islets in type 2 diabetes patients
    compared to control subjects. Up-regulated in T-cells from patients with atopic dermatitis

        Custom PCR Arrays for TBC1D4
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TBC1D4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBC1D4
    QuantiTect SYBR Green Assays in human, mouse, rat TBC1D4
    QuantiFast Probe-based Assays in human, mouse, rat TBC1D4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D4

    (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 TBC1D4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d41 , 5 TBC1 domain family, member 41, 5 84.63(n)1
    89.45(a)1
      14 (50.90 cM)5
    2107891  NM_001081278.21  NP_001074747.21 
     1014423605 
    chicken
    (Gallus gallus)
    Aves TBC1D41 TBC1 domain family, member 4 75.95(n)
    80.84(a)
      428062  XM_003640553.2  XP_003640601.2 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D46
    TBC1 domain family, member 4
    78(a)
    1 ↔ 1
    3(87412531-87495907)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.191192 Transcribed sequence with moderate similarity to protein more 76.54(n)    AL885266.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-222g23.41 si:ch211-222g23.4 64.22(n)
    65.9(a)
      321065  XM_005167776.1  XP_005167833.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta plx6
    pollux
    26(a)
    1 → many
    3R(1511854-1538559)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GYP56
    GYL16
    GTPase-activating protein (GAP) for yeast Rab fami...
    Putative GTPase activating protein (GAP) with a ro...
    19(a)
    19(a)
    many ↔ many
    many ↔ many
    XVI(76669-79353) YPL249C
    XIII(647118-649280) YMR192W


    ENSEMBL Gene Tree for TBC1D4 (if available)
    TreeFam Gene Tree for TBC1D4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for TBC1D4 gene
    TBC1D122  TBC1D142  RABGAP1L2  TBC1D12  EVI52  EVI5L2  RABGAP12  
    1 SIMAP similar gene for TBC1D4 using alignment to 2 protein entries:     TBCD4_HUMAN (see all proteins):
    TBC1D1

    Find genes that share paralogs with TBC1D4           About GenesLikeMe



    (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 TBC1D4 (see all 4185)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1116225681,2
    C--56640956(+) TGTCTCACA/-  
            
    CACAC
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs355194171,2
    C--56874302(+) CATGC-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs1837056281,2
    --75858325(+) GTTTCA/GTGGAA 1 -- ds50010--------
    rs5242301,2
    C,F--75858506(-) ggatcG/Ctctag 1 -- ds50018Minor allele frequency- C:0.31NA WA CSA 249
    rs1451879891,2
    --75858684(+) TGCTCA/GCATGC 1 -- ds50010--------
    rs1166159691,2
    F--75858694(+) CCCACC/TACTGC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1390042731,2
    C--75858802(+) GTATAC/TGTCAA 1 -- ds50010--------
    rs750549791,2
    C,F--75858803(+) TATACG/ATCAAG 1 -- ds50011Minor allele frequency- A:0.02EA 120
    rs10588451,2
    C,F--75858873(-) GCATCG/ATTACA 1 -- ut311Minor allele frequency- A:0.06NA 120
    rs1415389821,2
    C--75858874(+) GTAACA/GATGCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TBC1D4 (75858808 - 76056250 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TBC1D4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747669CNV Deletion23290073
    dgv338n67CNV Loss20364138
    nsv521444CNV Gain19592680

    Human Gene Mutation Database (HGMD): TBC1D4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D4
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 612465    OMIM disorders: --


    Find genes that share disorders with TBC1D4           About GenesLikeMe

    1 Novoseek inferred disease relationship for TBC1D4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperinsulinemia 49.7 4 15919790 (3), 17513702 (1)

    Genetic Association Database (GAD): TBC1D4
    Human Genome Epidemiology (HuGE) Navigator: TBC1D4 (1 document)

    Export disorders for TBC1D4 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 TBC1D4 gene, integrated from 10 sources (see all 85):
    (articles sorted by number of sources associating them with TBC1D4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Upregulation of the transcript level of GTPase activating protein KIAA0603 in T cells from patients with atopic dermatitis. (PubMed id 15304337)1, 2, 3, 9 Matsumoto Y.... Oshida T. (FEBS Lett. 2004)
    2. A method to identify serine kinase substrates. Akt phosphorylates a novel adipocyte protein with a Rab GTPase-activating protein (GAP) domain. (PubMed id 11994271)1, 2, 3 Kane S....Lienhard G.E. (J. Biol. Chem. 2002)
    3. Insulin-stimulated phosphorylation of the Akt substrate AS160 is impaired in skeletal muscle of type 2 diabetic subjects. (PubMed id 15919790)1, 2, 9 Karlsson H.K.R....Wallberg-Henriksson H. (Diabetes 2005)
    4. Rab GTPase-activating protein AS160 is a major downstream effector of protein kinase B/Akt signaling in pancreatic beta-cells. (PubMed id 18276765)1, 2, 9 Bouzakri K....Halban P.A. (Diabetes 2008)
    5. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1, 2, 9 Ishibashi K.... Fukuda M. (Genes Cells 2009)
    6. Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase- activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation. (PubMed id 21454505)1, 2 Park S.Y.... Shoelson S.E. (J. Biol. Chem. 2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Identification of a novel AS160 splice variant that regulates GLUT4 translocation and glucose-uptake in rat muscle cells. (PubMed id 18771725)1, 2 Baus D.... Tennagels N. (Cell. Signal. 2008)
    9. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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: 9882 HGNC: 19165 AceView: TBC1D4 Ensembl:ENSG00000136111 euGenes: HUgn9882
    ECgene: TBC1D4 Kegg: 9882 H-InvDB: TBC1D4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0603

    (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 TBC1D4 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 TBC1D4 gene:
    Search GeneIP for patents involving TBC1D4

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of TBC1D4
     
     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  
     OriGene Antibodies for TBC1D4   OriGene RNAi products in human, mouse, rat for TBC1D4  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for TBC1D4  
     OriGene MassSpec for TBC1D4   OriGene clones in human, mouse for TBC1D4  
     OriGene qSTAR qPCR primer pairs in human, mouse for TBC1D4   OriGene Purified Protein for TBC1D4  
     OriGene ORF clones in mouse, rat for TBC1D4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TBC1D4   OriGene Custom Protein Services for TBC1D4  

     
     
     Block miRNA regulation of human, mouse, rat TBC1D4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TBC1D4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D4 Predesigned siRNA for gene silencing in human, mouse, rat TBC1D4
     QuantiFast Probe-based Assays in human, mouse, rat TBC1D4 QuantiTect SYBR Green Assays in human, mouse, rat TBC1D4
     Custom PCR Arrays for TBC1D4 Search Chromatin IP Primers for TBC1D4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBC1D4  GeneGlobe Interaction Network for TBC1D4
     Regulatory tfbs in TBC1D4 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TBC1D4 GenScript cDNA clones with any tag delivered in your preferred vector for TBC1D4
     GenScript Custom Assay Services for TBC1D4 GenScript Custom overexpressing Cell Line Services for TBC1D4
     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
     Antibodies & Assays for TBC1D4  (AS160)

     Search Tocris compounds for TBC1D4 (TBCD4)
     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
     TBC1D4 antibodies
     TBC1D4 lysates
     Antibodies for TBC1D4
     See all of Abcam's Antibodies, Kits and Proteins for TBC1D4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TBC1D4
     Antibodies for TBC1D4
     ELISAs for TBC1D4
     CLIAs for TBC1D4



     Browse ESI BIO Cell Lines and PureStem Progenitors for TBC1D4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D4
     SwitchGear 3'UTR luciferase reporter plasmids for TBC1D4
     SwitchGear Promoter luciferase reporter plasmids for TBC1D4
     ThermoFisher Antibodies for TBC1D4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D4
     Browse compounds at ApexBio
     Search Addgene for plasmids for TBC1D4
      Search eBioscience for proteins for TBC1D4
      Search eBioscience for elisas for TBC1D4
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for TBC1D4
     antibodies-online antibodies for TBC1D4 (60 products)
     antibodies-online kits for TBC1D4 (4 products)
     antibodies-online peptides for TBC1D4
      Search antibodies-online for proteins for TBC1D4
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 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      TBC1D4 gene at Home site.
    Version: 3.12.252 27 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4