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TIMM8A Gene

protein-coding   GIFtS: 66
GCID: GC0XM100600

Translocase Of Inner Mitochondrial Membrane 8 Homolog A...

(Previous name: translocase of inner mitochondrial membrane 8 (yeast) homolog...)
(Previous symbol: DFN1)
  See TIMM8A-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
Translocase Of Inner Mitochondrial Membrane 8 Homolog A (Yeast)1 2     MTS2 5
DFN11 2 5     Translocase Of Inner Mitochondrial Membrane 8 (Yeast) Homolog A1
DDP2 3 5     TIM82
DDP12 3 5     Deafness/Dystonia Peptide2
Deafness Dystonia Protein 12 3     Mitochondrial Import Inner Membrane Translocase Subunit Tim8 A2
X-Linked Deafness Dystonia Protein2 3     TIM8A3

External Ids:    HGNC: 118171   Entrez Gene: 16782   Ensembl: ENSG000001269537   OMIM: 3003565   UniProtKB: O602203   

Export aliases for TIMM8A gene to outside databases

Previous GC identifers: GC0XM095892 GC0XM097571 GC0XM098636 GC0XM099372 GC0XM100406 GC0XM100488 GC0XM090406


(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 TIMM8A Gene:
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into
the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome
(MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial
protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic
nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative
splicing results in multiple transcript variants encoding distinct isoforms.(provided by RefSeq, Mar 2009)

GeneCards Summary for TIMM8A Gene:
TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast)) is a protein-coding gene. Diseases associated with TIMM8A include x-linked disease, and deafness, x-linked 1, progressive. An important paralog of this gene is TIMM8B.

UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220
Function: Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass
transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel
precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts
as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the
mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23,
SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of
much more proteins. Probably necessary for normal neurologic development

Gene Wiki entry for TIMM8A 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TIMM8A gene promoter:
         p53   NRSF form 1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   NRSF form 2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTIMM8A promoter sequence
   Search Chromatin IP Primers for TIMM8A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TIMM8A


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

Entrez Gene cytogenetic band: Xq22.1   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq22

TIMM8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIMM8A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM100600:  view genomic region     (about GC identifiers)

Start:
100,600,644 bp from pter      End:
100,604,184 bp from pter
Size:
3,541 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: TIM8A_HUMAN, O60220 (See protein sequence)
Recommended Name: Mitochondrial import inner membrane translocase subunit Tim8 A  
Size: 97 amino acids; 10998 Da
Subunit: Heterohexamer; composed of 3 copies of TIMM8A and 3 copies of TIMM13, named soluble 70 kDa complex.
Associates with the TIM22 complex, whose core is composed of TIMM22
Secondary accessions: B2R5A6 Q6IRW6

Explore the universe of human proteins at neXtProt for TIMM8A: NX_O60220

Explore proteomics data for TIMM8A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys86, Lys88
  • Modification sites at PhosphoSitePlus

  • See TIMM8A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139423.1  NP_004076.1  

    ENSEMBL proteins: 
     ENSP00000361993  
    Reactome Protein details: O60220

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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:
     IPR004217 Tim10/DDP_fam_Znf

    Graphical View of Domain Structure for InterPro Entry O60220

    ProtoNet protein and cluster: O60220

    1 Blocks protein domain: IPB004217 Zn-finger

    UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220
    Domain: The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial
    intermembrane space. However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residues
    probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer
    membrane (By similarity)
    Similarity: Belongs to the small Tim family


    Find genes that share domains with TIMM8A           About GenesLikeMe


    (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, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TIM8A_HUMAN, O60220
    Function: Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass
    transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel
    precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts
    as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the
    mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23,
    SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of
    much more proteins. Probably necessary for normal neurologic development

         Genatlas biochemistry entry for TIMM8A:
    translocase of inner mitochondrial protein 8 (yeast) homolog A,ubiquitously expressed,highly in the fetal
    brain,involved in neurological development,paralog of TIM8B,S cerevisiae Tim8p ortholog,component of the TIM
    complex

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with TIMM8A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TIMM8A:
     Decreased Tat-dependent transc 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TIMM8A
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    miRNA
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    miRTarBase miRNAs that target TIMM8A:
    hsa-mir-155-5p (MIRT020870), hsa-mir-375 (MIRT000053), hsa-let-7b-5p (MIRT032388), hsa-mir-30a-5p (MIRT028557)

    Block miRNA regulation of human, mouse, rat TIMM8A using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate TIMM8A:
    hsa-miR-513b hsa-miR-526b hsa-miR-205* hsa-miR-1245 hsa-miR-4276 hsa-miR-4301
    SwitchGear 3'UTR luciferase reporter plasmidTIMM8A 3' UTR sequence
    Inhib. RNA
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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
    TIM8A_HUMAN, O60220: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    extracellular2
    nucleus2
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005758mitochondrial intermembrane space IDA14726512

    Find genes that share ontologies with TIMM8A           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).
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    SuperPaths for TIMM8A About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    2Mitochondrial Protein Import
    Mitochondrial Protein Import


    Find genes that share SuperPaths with TIMM8A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for TIMM8A
        Mitochondrial protein import


        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM8A: 
              Mitochondria in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TIMM8A

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

    Selected Interacting proteins for TIMM8A (O602202, 3 ENSP000003619934) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRM1Q161862, 3, ENSP000002530034MINT-3373695 I2D: score=1 STRING: ENSP00000253003
    JOSD1Q150403, ENSP000002160394I2D: score=2 STRING: ENSP00000216039
    TIMM13Q9Y5L43, ENSP000002155704I2D: score=3 STRING: ENSP00000215570
    USP30Q70CQ33, ENSP000002575484I2D: score=2 STRING: ENSP00000257548
    STAMQ927833, ENSP000003667464I2D: score=2 STRING: ENSP00000366746
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0007399nervous system development TAS8841189
    GO:0044267cellular protein metabolic process TAS--
    GO:0072321chaperone-mediated protein transport TAS16387659

    Find genes that share ontologies with TIMM8A           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)
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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 TIMM8A (TIM8A)

    1 Novoseek inferred chemical compound relationship for TIMM8A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 1.98 2 17520285 (1), 10873677 (1)



    Find genes that share compounds with TIMM8A           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 )
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    REFSEQ mRNAs for TIMM8A gene (3 alternative transcripts): 
    NM_001145951.1  NM_004085.3  NM_032696.1  

    Unigene Cluster for TIMM8A:

    Translocase of inner mitochondrial membrane 8 homolog A (yeast)
    Hs.447877  [show with all ESTs]
    Unigene Representative Sequence: NM_004085
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372902(uc004ehd.2) ENST00000480575(uc011mri.2)
    miRNA
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    hsa-miR-513b hsa-miR-526b hsa-miR-205* hsa-miR-1245 hsa-miR-4276 hsa-miR-4301
    SwitchGear 3'UTR luciferase reporter plasmidTIMM8A 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TIMM8A
      QuantiFast Probe-based Assays in human, mouse, rat TIMM8A

    Additional mRNA sequence: 

    AK312117.1 BC006994.1 BC015093.1 BC070284.1 U66035.1 

    7 DOTS entries:

    DT.410389  DT.97837320  DT.99998962  DT.121303092  DT.40288453  DT.91922310  DT.97817214 

    Selected AceView cDNA sequences (see all 108):

    BC015093 BE783062 AA279264 AI476520 BU857750 AA884254 CF529740 BG575927 
    AA974588 CF529628 BM996400 BQ013940 CD370119 AW070273 AI193723 BU621894 
    BX956216 BU176830 BQ013177 CF529632 BU181473 BX283098 AA643765 U66035 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TIMM8A    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b
    SP1:                          -               
    SP2:                                          
    SP3:                    -     -               


    ECgene alternative splicing isoforms for TIMM8A

    (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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    TIMM8A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTAATGTTA
    TIMM8A Expression
    About this image


    TIMM8A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    TIMM8A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TIMM8A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.447877

    UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220
    Tissue specificity: Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also
    expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart

        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM8A: 
              Mitochondria in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat TIMM8A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM8A

    (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 and fungi.

    Orthologs for TIMM8A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Timm8a11 , 5 translocase of inner mitochondrial membrane 8 homolog more5
    translocase of inner mitochondrial membrane 8A11
    90.72(n)1
    94.85(a)1
      X (56.18 cM)5
    300581  NM_013898.21  NP_038926.11 
     1345372565 
    chicken
    (Gallus gallus)
    Aves TIMM8A1 translocase of inner mitochondrial membrane 8 homolog more 80.9(n)
    91.01(a)
      422190  XM_420185.4  XP_420185.1 
    lizard
    (Anolis carolinensis)
    Reptilia TIMM8A6
    translocase of inner mitochondrial membrane 8 homo...
    89(a)
    1 ↔ 1
    GL343451.1(229615-231353)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55632 Xenopus laevis transcribed sequence with moderate similarity more 77.91(n)    48031004 
    zebrafish
    (Danio rerio)
    Actinopterygii timm8a1 translocase of inner mitochondrial membrane 8 homolog more 74.21(n)
    83.33(a)
      445243  NM_001003637.2  NP_001003637.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ddp-16
    Protein DDP-1 (ddp-1) mRNA, complete cds
    40(a)
    1 ↔ 1
    III(1859888-1860374) WBGene00000941
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TIM8(YJR135W-A)4 Mitochondrial intermembrane space protein, forms a more   --   10(676971-677234) 853600  NP_058168.1 


    ENSEMBL Gene Tree for TIMM8A (if available)
    TreeFam Gene Tree for TIMM8A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TIMM8A gene
    TIMM8B2  
    2 SIMAP similar genes for TIMM8A using alignment to 1 protein entry:     TIM8A_HUMAN:
    TIMM8B    TIMM13

    Find genes that share paralogs with TIMM8A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for TIMM8A
    PGOHUM00000240411


    (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 TIMM8A (see all 61)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0102374
    Mohr-Tranebjaerg syndrome (MTS)4--see VAR_0102372 C W mis40--------
    rs803565581,2
    Cnon-pathogenic1100567980(-) CTTGA-/GA    
       T
    /TGA
    TCTCC
    1 -- cds10--------
    rs10548941,2
    C,Fpathogenic1100568541(-) TGAATC/TGACTG 2 R * stg1 ese31Minor allele frequency- T:0.16MN 184
    rs803565601,2
    Cpathogenic1100568581(-) AACTGC/GGTTGA 2 C W mis10--------
    rs1110336311,2
    Cpathogenic1100570581(-) TCATCG/TAGGTA 4 E * stg10--------
    rs1840366271,2
    C--100567145(+) AACCCA/GGGAGG 1 -- int10--------
    rs1872576281,2
    --100567329(+) CACTAC/GAGGCT 1 -- int10--------
    rs1913475331,2
    --100567429(+) CTCACA/GGACTT 1 -- int10--------
    rs30276551,2
    C,F--100567577(-) CTGATC/TCCAAG 1 -- int11Minor allele frequency- T:0.00CSA 1
    rs2013681331,2
    --100567640(+) TCAAT-/CACAGAG 1 -- spd10--------

    HapMap Linkage Disequilibrium report for TIMM8A (100600644 - 100604184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TIMM8A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524411CNV Loss19592680

    Human Gene Mutation Database (HGMD): TIMM8A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TIMM8A
    DNA2.0 Custom Variant and Variant Library Synthesis for TIMM8A

    (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.)
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    OMIM gene information: 300356   
    OMIM disorders: 304700  311150  
    UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220
  • Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]: Recessive neurodegenerative syndrome characterized by
    postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by
    progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Jensen syndrome (JENSS) [MIM:311150]: X-linked disease characterized by deafness, blindness and muscle
    weakness. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for TIMM8A:    
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    x-linked disease    deafness, x-linked 1, progressive    jensen syndrome    deafness dystonia syndrome
    limb dystonia    x-linked nonsyndromic deafness    blepharospasm    dystonia
    focal dystonia    mitochondrial disorders

    3 diseases from the University of Copenhagen DISEASES database for TIMM8A:
    Deafness dystonia syndrome     X-linked nonsyndromic deafness     Sensorineural hearing loss

    Find genes that share disorders with TIMM8A           About GenesLikeMe

    10 Novoseek inferred disease relationships for TIMM8A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mohr-tranebjaerg syndrome 99.3 21 15710860 (3), 17999202 (2), 11601506 (2), 11405816 (1) (see all 13)
    mitochondrial diseases 62.5 1 10611480 (1)
    focal dystonia 60.7 2 11601506 (1), 15037720 (1)
    hearing loss sensorineural 52.2 1 10611480 (1)
    blindness 48.5 2 8841189 (1), 10611480 (1)
    neurodegeneration 46.3 2 11449109 (1), 11803487 (1)
    neurodegenerative diseases 44.2 4 10552927 (1), 11101512 (1), 11489896 (1)
    mental retardation 19.5 1 10611480 (1)
    dementia 15.2 1 19268975 (1)
    disability 0 2 10878669 (1), 11803487 (1)

    GeneTests: TIMM8A
    GeneReviews: TIMM8A
    Genetic Association Database (GAD): TIMM8A
    Human Genome Epidemiology (HuGE) Navigator: TIMM8A (4 documents)

    Export disorders for TIMM8A 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 TIMM8A gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with TIMM8A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. (PubMed id 8841189)1, 2, 3, 9 Jin H.... Vetrie D. (Nat. Genet. 1996)
    2. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. (PubMed id 10878669)1, 2, 9 Tranebjaerg L....Van Ghelue M. (Eur. J. Hum. Genet. 2000)
    3. Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. (PubMed id 11489896)1, 2, 9 Rothbauer U.... Bauer M.F. (J. Biol. Chem. 2001)
    4. Human deafness dystonia syndrome is a mitochondrial disease. (PubMed id 10051608)1, 2, 9 Koehler C.M....Schatz G. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    5. The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (PubMed id 10552927)1, 3, 9 Jin H.... Vetrie D.L.P. (Genomics 1999)
    6. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. (PubMed id 15254020)1, 2, 9 Roesch K.... Koehler C.M. (Hum. Mol. Genet. 2004)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. 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)
    10. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. (PubMed id 11875042)1, 2 Roesch K.... Koehler C.M. (Hum. Mol. Genet. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1678 HGNC: 11817 AceView: TIMM8A Ensembl:ENSG00000126953 euGenes: HUgn1678
    ECgene: TIMM8A H-InvDB: TIMM8A

    (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 TIMM8A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TIMM8A Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TIMM8A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TIMM8A gene:
    Search GeneIP for patents involving TIMM8A

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



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