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TBC1D24 Gene

protein-coding   GIFtS: 49
GCID: GC16P002526

TBC1 Domain Family, Member 24

(Previous names: deafness, autosomal recessive 86)
(Previous symbol: DFNB86)
  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 241 2     FIME2 5
DFNB861 2 5     KIAA11713 5
TBC/LysM-Associated Domain Containing 61 2     Deafness, Autosomal Recessive 861
DOORS2 5     TLDC62
EIEE162 5     TBC1 Domain Family Member 242

External Ids:    HGNC: 292031   Entrez Gene: 574652   Ensembl: ENSG000001620657   OMIM: 6135775   UniProtKB: Q9ULP93   

Export aliases for TBC1D24 gene to outside databases

Previous GC identifer: GC16P002487


(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 TBC1D24 Gene:
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins
which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group
of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of
membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Feb 2011)

GeneCards Summary for TBC1D24 Gene:
TBC1D24 (TBC1 domain family, member 24) is a protein-coding gene. Diseases associated with TBC1D24 include familial infantile myoclonic epilepsy, and focal epilepsy - intellectual deficit - cerebro-cerebellar malformation. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is ENSG00000260272.

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
Function: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections
development, probably through a negative modulation of ARF6 function




(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_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBC1D24 gene promoter:
         Elk-1   Pax-5   AP-4   Nkx2-5   Tal-1beta   AREB6   CREB   Zic1   HSF2   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TBC1D24

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D24


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TBC1D24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D24 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P002526:  view genomic region     (about GC identifiers)

Start:
2,525,147 bp from pter      End:
2,555,735 bp from pter
Size:
30,589 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9 (See protein sequence)
Recommended Name: TBC1 domain family member 24  
Size: 559 amino acids; 62919 Da
Subunit: Interacts with ARF6
Sequence caution: Sequence=BAA86485.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A0JNW3 Q2KJ08
Alternative splicing: 2 isoforms:  Q9ULP9-1   Q9ULP9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D24: NX_Q9ULP9

Explore proteomics data for TBC1D24 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys36
  • Modification sites at PhosphoSitePlus

  • See TBC1D24 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186036.1  NP_065756.1  

    ENSEMBL proteins: 
     ENSP00000454408   ENSP00000293970   ENSP00000457896   ENSP00000457266   ENSP00000455005  
     ENSP00000390106  

    TBC1D24 Human Recombinant Protein Products:

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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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    2 InterPro protein domains:
     IPR000195 Rab-GTPase-TBC_dom
     IPR006571 TLDc

    Graphical View of Domain Structure for InterPro Entry Q9ULP9

    ProtoNet protein and cluster: Q9ULP9

    UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
    Similarity: Contains 1 Rab-GAP TBC domain
    Similarity: Contains 1 TLD domain


    TBC1D24 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: TBC24_HUMAN, Q9ULP9
    Function: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections
    development, probably through a negative modulation of ARF6 function

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005515protein binding IPI--
         
    TBC1D24 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TBC1D24:
     Cell cycle / mitosis defect 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBC1D24
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TBC1D24 (see all 20):
    hsa-miR-3678-3p hsa-miR-1226 hsa-miR-181c hsa-miR-1205 hsa-miR-766 hsa-miR-1184 hsa-miR-298 hsa-miR-3908
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D24

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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
    TBC24_HUMAN, Q9ULP9: Cytoplasm. Note=Partially expressed at the plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    peroxisome2
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    TBC1D24 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 TBC1D24
    Interactions:

        Search GeneGlobe Interaction Network for TBC1D24

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for TBC1D24 (Q9ULP93 ENSP000002939704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TMCO1Q9UM003I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031175neuron projection development IMP--
    GO:0032313regulation of Rab GTPase activity ----

    TBC1D24 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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBC1D24 (TBC24)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBC1D24 gene (2 alternative transcripts): 
    NM_001199107.1  NM_020705.2  

    Unigene Cluster for TBC1D24:

    TBC1 domain family, member 24
    Hs.353087  [show with all ESTs]
    Unigene Representative Sequence: NM_001199107
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567020(uc002cql.3 uc002cqk.3 uc010bsm.3) ENST00000293970
    ENST00000566853 ENST00000562105 ENST00000564879 ENST00000569874 ENST00000434757

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TBC1D24 (see all 20):
    hsa-miR-3678-3p hsa-miR-1226 hsa-miR-181c hsa-miR-1205 hsa-miR-766 hsa-miR-1184 hsa-miR-298 hsa-miR-3908
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      QuantiFast Probe-based Assays in human, mouse, rat TBC1D24

    Additional mRNA sequence: 

    AB032997.1 AB449911.1 AK074509.1 BC112389.1 BC127014.1 BC127015.1 BX648283.1 

    5 DOTS entries:

    DT.100883301  DT.75128753  DT.120680310  DT.92043110  DT.435886 

    Selected AceView cDNA sequences (see all 585):

    BM769410 BM826778 BU838206 BU620642 CR608280 AI620452 BQ232887 AW611563 
    AW300535 AI140316 BF725964 BQ678034 CF127534 BQ229305 H40278 CF127865 
    CA425429 AI865257 BM849540 AI092753 BX111121 BF725732 AI125759 BC004537 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D24    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      


    ECgene alternative splicing isoforms for TBC1D24

    (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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    TBC1D24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBC1D24 Expression
    About this image

    TBC1D24 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D24 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.353087

    UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
    Tissue specificity: Highest expression in brain

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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 TBC1D24 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d241 , 5 TBC1 domain family, member 241, 5 85.45(n)1
    92.49(a)1
      17 (12.30 cM)5
    2246171  NM_001163849.11  NP_001157321.11 
     241754315 
    chicken
    (Gallus gallus)
    Aves TBC1D241 TBC1 domain family, member 24 75.64(n)
    80.55(a)
      100859828  NM_001257271.1  NP_001244200.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    77(a)
    1 → many
    GL343621.1(283559-299117)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.185632 Transcribed sequences 75(n)    CF344049.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005360731 TBC1 domain family member 24-like 65.49(n)
    63.64(a)
      100536073  XM_003201361.2  XP_003201409.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta sky1 skywalker 48.73(n)
    36.14(a)
      35359  NM_165350.4  NP_724302.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-71 tbc-7 40.99(n)
    30(a)
      180784  NM_171677.3  NP_741778.1 


    ENSEMBL Gene Tree for TBC1D24 (if available)
    TreeFam Gene Tree for TBC1D24 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBC1D24 gene
    ENSG000002602722  
    1 SIMAP similar gene for TBC1D24 using alignment to 5 protein entries:     TBC24_HUMAN (see all proteins):
    OXR1

    TBC1D24 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 TBC1D24 (see all 696)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0643664
    Familial infantile myoclonic epilepsy (FIME)4--see VAR_0643662 F L mis40--------
    VAR_0701024
    Epileptic encephalopathy, early infantile, 16 (EIEE16)4--see VAR_0701022 F S mis40--------
    VAR_0643654
    Familial infantile myoclonic epilepsy (FIME)4--see VAR_0643652 D H mis40--------
    VAR_0643674
    Familial infantile myoclonic epilepsy (FIME)4--see VAR_0643672 A V mis40--------
    rs2676071031,2
    Cpathogenic12481925(+) GCATCA/C/GACGAG 4 H D mis10--------
    rs1438828471,2
    C--2458291(+) CCACAA/GGCCAG 2 -- us2k10--------
    rs2009268181,2
    C--2458342(+) GCTGCG/ACGCCT 2 -- us2k11Minor allele frequency- A:0.00EU 1035
    rs2009792991,2
    --2458343(+) CTGCGC/TGCCTG 2 -- us2k10--------
    rs1479898681,2
    F--2458344(+) TGCGCG/ACCTGG 2 -- us2k11Minor allele frequency- A:0.00NA 4488
    rs1416165971,2
    C,F--2458363(+) AAAGCC/TGCTCC 2 -- us2k12Minor allele frequency- T:0.00NA EU 5467

    HapMap Linkage Disequilibrium report for TBC1D24 (2525147 - 2555735 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TBC1D24 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675949CNV Deletion23128226
    esv2422427CNV Duplication17116639
    dgv2545n71CNV Loss21882294
    esv29545CNV Loss19812545
    nsv905152CNV Loss21882294
    nsv905139CNV Loss21882294
    nsv833121CNV Loss17160897
    dgv2570n71CNV Loss21882294
    nsv905153CNV Loss21882294
    nsv833122CNV Loss17160897

    Human Gene Mutation Database (HGMD): TBC1D24
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D24
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D24

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613577   
    OMIM disorders: 605021  615338  220500  614617  
    UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
  • Familial infantile myoclonic epilepsy (FIME) [MIM:605021]: A subtype of idiopathic epilepsy starting in
    early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]: A severe autosomal recessive
    neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of
    various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected
    infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such
    as extrapyramidal signs and hypotonia. Most die in childhood. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 12 diseases for TBC1D24:    
    About MalaCards
    familial infantile myoclonic epilepsy    focal epilepsy - intellectual deficit - cerebro-cerebellar malformation    deafness onychodystrophy osteodystrophy and mental retardation syndrome    epileptic encephalopathy, early infantile, 16
    focal epilepsy    epileptic encephalopathy, early infantile, 12    deafness, autosomal recessive 76    intellectual disability
    multiple myeloma    malaria    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TBC1D24:
    Focal epilepsy

    TBC1D24 for disorders           About GeneDecksing


    Export disorders for TBC1D24 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 TBC1D24 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with TBC1D24)
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    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 1999)
    2. Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. (PubMed id 24387994)1, 3 Rehman A.U....Friedman T.B. (Am. J. Hum. Genet. 2014)
    3. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. (PubMed id 23526554)1, 2 Milh M.... Fassio A. (Hum. Mutat. 2013)
    4. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. (PubMed id 20727515)1, 2 Falace A.... Zara F. (Am. J. Hum. Genet. 2010)
    5. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (PubMed id 20797691)1, 2 Corbett M.A.... Gecz J. (Am. J. Hum. Genet. 2010)
    6. The genetic basis of DOORS syndrome: an exome-sequencing study. (PubMed id 24291220)1 Campeau P.M....Sisodiya S.M. (Lancet Neurol 2014)
    7. 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)
    8. TBC1D24 truncating mutation resulting in severe neurodegeneration. (PubMed id 23343562)1 Guven A. and Tolun A. (J. Med. Genet. 2013)
    9. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. (PubMed id 23517570)1 Afawi Z....Jackson G.D. (Epilepsy Res. 2013)
    10. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. (PubMed id 22211675)1 Ali R.A....Riazuddin S. (Clin. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57465 HGNC: 29203 AceView: ATP6V0CandCGI-14andKIAA1171 Ensembl:ENSG00000162065 euGenes: HUgn57465
    ECgene: TBC1D24 H-InvDB: TBC1D24

    (According to HUGE)
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    HUGE: KIAA1171

    (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 TBC1D24 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 TBC1D24 gene:
    Search GeneIP for patents involving TBC1D24

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



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