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

TBC1D4 Gene

protein-coding   GIFtS: 63
GCID: GC13M075858

TBC1 Domain Family, Member 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TBC1D4 Gene: 
TBC1D4 (TBC1 domain family, member 4) is a protein-coding gene. Diseases associated with TBC1D4 include polycystic ovary syndrome, and atopic dermatitis, and among its related super-pathways are Translocation of GLUT4 to the Plasma Membrane. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TBC1D4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: TBCD4_HUMAN, O60343 (See protein sequence)
Recommended Name: TBC1 domain family member 4  
Size: 1298 amino acids; 146563 Da
Subcellular location: Cytoplasm. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell
line in resting and insulin-stimulated cells
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:

  • UniProtKB: 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 patients
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60343

  • TBC1D4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D4 Protein Expression
    REFSEQ proteins: NP_055647.2  
    ENSEMBL proteins: 
     ENSP00000366863   ENSP00000396932   ENSP00000395986   ENSP00000366852   ENSP00000390654  
    Reactome Protein details: O60343
    Human Recombinant Protein Products for TBC1D4: 
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    Cloud-Clone Corp. Proteins for TBC1D4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030659cytoplasmic vesicle membrane TAS--

    TBC1D4 for ontologies           About GeneDecksing



    TBC1D4 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
    4 InterPro protein domains:
     IPR021785 DUF3350
     IPR000195 Rab-GTPase-TBC_dom
     IPR006020 PTyr_interaction_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


    TBC1D4 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005515protein binding ----
         
    TBC1D4 for ontologies           About GeneDecksing


    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  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  reproductive system 

    TBC1D4 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBC1D4 
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    SwitchGear 3'UTR luciferase reporter plasmidTBC1D4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D4


    (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

    SuperPaths for TBC1D4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Membrane Trafficking
    Translocation of GLUT4 to the Plasma Membrane0.32
    Membrane Trafficking0.32
    2Insulin-mediated glucose transport
    Insulin-mediated glucose transport
    3Insulin Signaling
    Insulin Signaling
    4Class I PI3K signaling events mediated by Akt
    Class I PI3K signaling events mediated by Akt
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    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
    Class I PI3K signaling events mediated by Akt
    Insulin-mediated glucose transport

    2        Reactome Pathways for TBC1D4
        Membrane Trafficking
    Translocation of GLUT4 to the Plasma Membrane



    TBC1D4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBC1D4

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

    5/36 Interacting proteins for TBC1D4 (O603432, 3 ENSP000003668634) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192vesicle-mediated transport IMP--
    GO:0032313regulation of Rab GTPase activity ----
    GO:0032869cellular response to insulin stimulus IMP--

    TBC1D4 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

    TBC1D4 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about TBC1D4 / TBCD4

    (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 TBC1D4 gene: 
    NM_014832.2  

    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
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    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 

    24/171 AceView cDNA sequences (see all 171):

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

    GeneLoc Exon Structure

    5/11 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™, 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

    TBC1D4 expression in normal human tissues (normalized intensities)      TBC1D4 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Blood (Cardiovascular System)
             T Helper Cells Thymus

    See TBC1D4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D4

    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

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    In Situ
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    (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 TBC1D4 gene from 7/13 species (see all 13)    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 82.82(n)1
    86.87(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 75.82(n)
    80.09(a)
      428062  XM_003640553.1  XP_003640601.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D46
    TBC1 domain family, member 4
    77(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 64.56(n)
    66.04(a)
      321065  XM_002663395.1  XP_002663441.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta plx6
    pollux
    24(a)
    1 → many
    3R(1511854-1538559)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GYL16
    GYP56
    Putative GTPase activating protein (GAP) with a ro...
    GTPase-activating protein (GAP) for yeast Rab fami...
    17(a)
    15(a)
    many ↔ many
    many ↔ many
    XIII(647118-649280)
    XVI(76669-79353)


    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
    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

    TBC1D4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4185 SNPs in TBC1D4 are shown (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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612465    OMIM disorders: --

    9 diseases for TBC1D4:    About MalaCards
    polycystic ovary syndrome    atopic dermatitis    insulin resistance    colon adenocarcinoma
    dermatitis    sarcoma    thyroiditis    adenocarcinoma
    pancreatitis


    TBC1D4 for disorders           About GeneDecksing

    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

    PubMed articles for TBC1D4 gene, integrated from 9 sources (see all 83):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 9882 HGNC: 19165 AceView: TBC1D4 Ensembl:ENSG00000136111 euGenes: HUgn9882
    ECgene: TBC1D4 H-InvDB: TBC1D4

    (According to HUGE)
    About This Section
    HUGE: KIAA0603

    (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 TBC1D4 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 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



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    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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