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TBC1D7 Gene

protein-coding   GIFtS: 50
GCID: GC06M013266

TBC1 Domain Family, Member 7

  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)
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Aliases
TBC1 Domain Family, Member 71 2
TBC72 3 5
Cell Migration-Inducing Protein 232 3
MGCPH2 5
PIG512 5
TBC1 Domain Family Member 72

External Ids:    HGNC: 210661   Entrez Gene: 512562   Ensembl: ENSG000001459797   OMIM: 6126555   UniProtKB: Q9P0N93   

Export aliases for TBC1D7 gene to outside databases

Previous GC identifers: GC06M013329 GC06M013374 GC06M013413 GC06M013305 GC06M013242


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TBC1D7 Gene:
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit
of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and
differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Dec 2013)

GeneCards Summary for TBC1D7 Gene:
TBC1D7 (TBC1 domain family, member 7) is a protein-coding gene. Diseases associated with TBC1D7 include megalencephaly, autosomal recessive, and isolated megalencephaly. GO annotations related to this gene include Rab GTPase activator activity.

UniProtKB/Swiss-Prot: TBCD7_HUMAN, Q9P0N9
Function: Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists
of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to
alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein
kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by
acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids,
by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required
to answer this question




(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)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBC1D7 gene promoter:
         ISGF-3   ATF-2   FOXD1   Pax-2a   Nkx2-5   STAT5A   LCR-F1   CRE-BP1   Ik-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D7 promoter sequence
   Search Chromatin IP Primers for TBC1D7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D7


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

Entrez Gene cytogenetic band: 6p24.1   Ensembl cytogenetic band:  6p24.1   HGNC cytogenetic band: 6p23

TBC1D7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D7 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M013266:  view genomic region     (about GC identifiers)

Start:
13,266,774 bp from pter      End:
13,328,815 bp from pter
Size:
62,042 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, 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.)
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UniProtKB/Swiss-Prot: TBCD7_HUMAN, Q9P0N9 (See protein sequence)
Recommended Name: TBC1 domain family member 7  
Size: 293 amino acids; 33972 Da
Subunit: Component of the TSC-TBC complex (also named Rhebulator complex), composed of the TSC1-TSC2 heterodimer
and TBC1D7. Interacts with TSC1 (via C-terminal half of the coiled-coil domain)
Caution: Was initially identified as a negative regulator of the TSC1-TSC2 complex (PubMed:17658474). However, it
was later shown that TBC1D7 is part of the TSC-TBC complex and participates in GTPase-activating protein
activity, leading to inhibition of the TOR signaling cascade (PubMed:22795129). The differences between 2 reports
might be explained by experimental conditions in the initial report, in which they overexpressed the TBC1D7
subunit, possibly leading to disrupt the stoichiometric complex and its downstream functions
1 PDB 3D structure from and Proteopedia for TBC1D7:
3QWL (3D)    
Secondary accessions: E7EV96 Q2TU37 Q53F44 Q5SZL7 Q86VM8 Q96MB8
Alternative splicing: 4 isoforms:  Q9P0N9-1   Q9P0N9-2   Q9P0N9-3   Q9P0N9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D7: NX_Q9P0N9

Explore proteomics data for TBC1D7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys165, Lys208, Lys277
  • Modification sites at PhosphoSitePlus

  • See TBC1D7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001137436.1  NP_001137437.1  NP_001137438.1  NP_001245386.1  NP_057579.1  

    ENSEMBL proteins: 
     ENSP00000475727   ENSP00000401438   ENSP00000348813   ENSP00000368602   ENSP00000475191  
     ENSP00000414292   ENSP00000404680   ENSP00000394425   ENSP00000417005   ENSP00000412102  
     ENSP00000414101   ENSP00000401339   ENSP00000368593   ENSP00000475355   ENSP00000475795  
     ENSP00000476109   ENSP00000475469   ENSP00000368609   ENSP00000343100  

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

    Graphical View of Domain Structure for InterPro Entry Q9P0N9

    ProtoNet protein and cluster: Q9P0N9

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TBCD7_HUMAN, Q9P0N9
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D7 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBCD7_HUMAN, Q9P0N9
    Function: Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists
    of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to
    alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein
    kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by
    acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids,
    by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required
    to answer this question

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005515protein binding IPI17658474
         
    TBC1D7 for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBCD7_HUMAN, Q9P0N9: Cytoplasmic vesicle. Note=Localizes in the cytoplasmic vesicles of the endomembrane in
    association with TSC1-TSC2 complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    extracellular1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0031410cytoplasmic vesicle IDA17658474

    TBC1D7 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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBC1D7
    Interactions:

        Search GeneGlobe Interaction Network for TBC1D7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for TBC1D7 (Q9P0N93 ENSP000003488134) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSC2P498153, ENSP000002194764I2D: score=2 STRING: ENSP00000219476
    TSC1Q925743, ENSP000002985524I2D: score=4 STRING: ENSP00000298552
    BECN1Q144573, ENSP000003552314I2D: score=3 STRING: ENSP00000355231
    IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
    YWHAEP622583I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031398positive regulation of protein ubiquitination IDA17658474
    GO:0032007negative regulation of TOR signaling IMP--
    GO:0032313regulation of Rab GTPase activity ----
    GO:0032862activation of Rho GTPase activity IMP--
    GO:0070848response to growth factor IMP--

    TBC1D7 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)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for TBC1D7 (TBCD7)



    (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 )
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    REFSEQ mRNAs for TBC1D7 gene (5 alternative transcripts): 
    NM_001143964.3  NM_001143965.3  NM_001143966.3  NM_001258457.2  NM_016495.5  

    Unigene Cluster for TBC1D7:

    TBC1 domain family, member 7
    Hs.484678  [show with all ESTs]
    Unigene Representative Sequence: AL833474
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000606214 ENST00000421203(uc011dis.2 uc003nak.1) ENST00000356436(uc003naj.3 uc003nan.3 uc010jpd.3)
    ENST00000379300(uc003nal.3 uc003nam.3) ENST00000607658 ENST00000452989
    ENST00000450347 ENST00000422136 ENST00000446018 ENST00000607532 ENST00000420456
    ENST00000607208 ENST00000428109 ENST00000416436 ENST00000379291 ENST00000606370
    ENST00000606541 ENST00000607230
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    Additional mRNA sequence: 

    AB449888.1 AF151073.1 AK057228.1 AK223445.1 AL833474.1 AY542308.1 AY826820.1 BC007054.1 
    BC050465.1 

    20 DOTS entries:

    DT.315711  DT.100786171  DT.100786173  DT.91741978  DT.91741970  DT.97843416  DT.101960767  DT.95181243 
    DT.40131207  DT.91741971  DT.95288214  DT.95181245  DT.121367802  DT.91741982  DT.95088823  DT.100786174 
    DT.121367807  DT.121367862  DT.40307988  DT.408950 

    Selected AceView cDNA sequences (see all 177):

    NM_016495 BU620048 AA235303 AA258659 BU163272 CR626678 AI300175 BM742347 
    C01339 AA252212 AI083565 BG768673 CR616365 BE891596 AI083894 AF151073 
    BU838855 AA258658 AI279547 BQ431688 CA309649 BC050465 BE783877 BU157684 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D7 (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11
    SP1:                                -     -     -     -     -     -                 -           -                                               -         
    SP2:                                      -     -     -     -     -                 -           -                                               -         
    SP3:                                -     -     -     -     -                       -           -                                                         
    SP4:                                -     -     -     -     -     -           -     -           -                                               -         
    SP5:                                            -     -     -     -                 -           -                                                         


    ECgene alternative splicing isoforms for TBC1D7

    (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)
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    TBC1D7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATCTGGGA
    TBC1D7 Expression
    About this image

    TBC1D7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.484678

    UniProtKB/Swiss-Prot: TBCD7_HUMAN, Q9P0N9
    Tissue specificity: Highly expressed in heart, and slightly in kidney, liver and placenta

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBC1D7 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d71 , 5 TBC1 domain family, member 71, 5 84.76(n)1
    90.78(a)1
      13 (21.31 cM)5
    670461  NM_001252639.11  NP_001239568.11 
     431517445 
    chicken
    (Gallus gallus)
    Aves TBC1D71 TBC1 domain family, member 7 75.34(n)
    78.08(a)
      420853  XM_418942.4  XP_418942.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D76
    TBC1 domain family, member 7
    83(a)
    1 ↔ 1
    4(59327460-59338099)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.208422 Xenopus laevis transcribed sequence with moderate similarity more 82.78(n)    BQ884408.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc732912 hypothetical protein MGC73291 74.47(n)   393750  BC059618.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG61821 CG6182 44.57(n)
    34.43(a)
      42869  NM_142966.3  NP_651223.2 


    ENSEMBL Gene Tree for TBC1D7 (if available)
    TreeFam Gene Tree for TBC1D7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBC1D7 gene
    1 SIMAP similar gene for TBC1D7 using alignment to 14 protein entries:     TBCD7_HUMAN (see all proteins):
    DKFZp686N2317

    TBC1D7 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), 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)
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    Selected SNPs for TBC1D7 (see all 644)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1121692061,2
    C,F--13304732(+) AAAAAT/CGTGAG 5 -- int1 ds50013Minor allele frequency- C:0.06CSA WA 122
    rs77745651,2
    C,H--13304819(+) ACTGGC/TCCAAA 5 -- int1 ds50014Minor allele frequency- T:0.00NS EA 420
    rs1168328651,2
    C,F--13305048(+) CACACC/TCACTC 5 -- int1 ds50011Minor allele frequency- T:0.01WA 118
    rs1145458351,2
    C,F--13305142(+) CTATGT/GAACTG 5 -- int1 ds50011Minor allele frequency- G:0.04WA 118
    rs1909952451,2
    --13305160(+) CTGCTC/TGCCAA 5 -- int1 ds50010--------
    rs1831418041,2
    --13305201(+) ATTTTA/TTTGGG 5 -- ut310--------
    rs1411870281,2
    C--13305221(+) CCACTA/TTGAGC 5 -- ut310--------
    rs2003436791,2
    C--13305310(+) GCAGAC/TGGTCC 5 -- ut310--------
    rs1450618211,2
    C--13305330(+) GGGTGC/TGTTCA 5 -- ut310--------
    rs1483204391,2
    C--13305331(+) GGTGCA/GTTCAG 5 -- ut310--------

    HapMap Linkage Disequilibrium report for TBC1D7 (13266774 - 13328815 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TBC1D7: --
    Human Gene Mutation Database (HGMD): TBC1D7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D7
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D7

    (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.)
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    OMIM gene information: 612655   
    OMIM disorders: 248000  
    3 diseases for TBC1D7:    
    About MalaCards
    megalencephaly, autosomal recessive    isolated megalencephaly    malaria


    TBC1D7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBC1D7
    Human Genome Epidemiology (HuGE) Navigator: TBC1D7 (1 document)

    Export disorders for TBC1D7 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)
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    PubMed articles for TBC1D7 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with TBC1D7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    2. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. (PubMed id 22795129)1, 2 Dibble C.C.... Manning B.D. (Mol. Cell 2012)
    3. 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)
    4. Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex. (PubMed id 17658474)1, 2 Nakashima A.... Yonezawa K. (Biochem. Biophys. Res. Commun. 2007)
    5. Functional dissection of Rab GTPases involved in primary cilium formation. (PubMed id 17646400)1, 3 Yoshimura S....Barr F.A. (J. Cell Biol. 2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PubMed id 23793025)1 Anttila V.... . (Nat. Genet. 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PubMed id 22354992)1 Popovic D....Dikic I. (Mol. Cell. Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 51256 HGNC: 21066 AceView: TBC1D7 Ensembl:ENSG00000145979 euGenes: HUgn51256
    ECgene: TBC1D7 H-InvDB: TBC1D7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBC1D7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBC1D7 gene:
    Search GeneIP for patents involving TBC1D7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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