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

TIMM13 Gene

protein-coding   GIFtS: 54
GCID: GC19M002425

Translocase Of Inner Mitochondrial Membrane 13 Homolog (Yeast)

(Previous name: translocase of inner mitochondrial membrane 13 (yeast) homolog...)
(Previous symbol: TIMM13B)
  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
Translocase Of Inner Mitochondrial Membrane 13 Homolog (Yeast)1 2     TIM132
TIMM13B1 2 3     Mitochondrial Import Inner Membrane Translocase Subunit Tim132
TIM13B2 3     Mitochondrial Import Inner Membrane Translocase Subunit Tim13B2
TIMM13A2 3     ppv12
Translocase Of Inner Mitochondrial Membrane 13 (Yeast) Homolog B1     

External Ids:    HGNC: 118161   Entrez Gene: 265172   Ensembl: ENSG000000998007   OMIM: 6073835   UniProtKB: Q9Y5L43   

Export aliases for TIMM13 gene to outside databases

Previous GC identifers: GC19M002488 GC19M002365 GC19M002376 GC19M002197


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TIMM13 Gene:
This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane)
family of proteins that function as chaperones in the import of proteins from the cytoplasm into the
mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the
translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and
assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner
mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a
70 kDa complex in the intermembrane space. (provided by RefSeq, Jul 2013)

GeneCards Summary for TIMM13 Gene: 
TIMM13 (translocase of inner mitochondrial membrane 13 homolog (yeast)) is a protein-coding gene. Diseases associated with TIMM13 include deafness dystonia syndrome, and familial deafness, and among its related super-pathways are Post-translational protein modification. GO annotations related to this gene include zinc ion binding.

UniProtKB/Swiss-Prot: TIM13_HUMAN, Q9Y5L4
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

Gene Wiki entry for TIMM13 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_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TIMM13 gene promoter:
         AhR   p53   HNF-4alpha2   Nkx2-5   Tal-1beta   LCR-F1   YY1   HNF-4alpha1   HEN1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTIMM13 promoter sequence
   Search SABiosciences Chromatin IP Primers for TIMM13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TIMM13


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

TIMM13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIMM13 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M002425:  view genomic region     (about GC identifiers)

Start:
2,425,622 bp from pter      End:
2,427,892 bp from pter
Size:
2,271 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: TIM13_HUMAN, Q9Y5L4 (See protein sequence)
Recommended Name: Mitochondrial import inner membrane translocase subunit Tim13  
Size: 95 amino acids; 10500 Da
Subunit: Heterohexamer; composed of 3 copies of TIMM8 (TIMM8A or TIMM8B) and 3 copies of TIMM13, named soluble 70
kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side
Secondary accessions: P62206 Q9UHL8 Q9WTL1

Explore the universe of human proteins at neXtProt for TIMM13: NX_Q9Y5L4

Explore proteomics data for TIMM13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5L4

  • TIMM13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TIMM13 Protein Expression
    REFSEQ proteins: NP_036590.1  
    ENSEMBL proteins: 
     ENSP00000215570   ENSP00000464881  
    Reactome Protein details: Q9Y5L4
    Human Recombinant Protein Products for TIMM13: 
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    OriGene MassSpec for TIMM13 
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    GenScript Custom Purified and Recombinant Proteins Services for TIMM13
    Novus Biologicals TIMM13 Protein
    Novus Biologicals TIMM13 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TIMM13 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0042719mitochondrial intermembrane space protein transporter complex TAS10552927

    TIMM13 for ontologies           About GeneDecksing



    TIMM13 Antibody Products: 
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    Abcam antibodies for TIMM13
    Cloud-Clone Corp. Antibodies for TIMM13 
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    Assay Products for TIMM13: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for TIMM13 
    Cloud-Clone Corp. CLIAs for TIMM13


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004217 Tim10/DDP_fam_Znf

    Graphical View of Domain Structure for InterPro Entry Q9Y5L4

    ProtoNet protein and cluster: Q9Y5L4

    1 Blocks protein domain: IPB004217 Zn-finger

    UniProtKB/Swiss-Prot: TIM13_HUMAN, Q9Y5L4
    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 TIMM13 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


    TIMM13 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: TIM13_HUMAN, Q9Y5L4
    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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding TAS10552927
    GO:0046872metal ion binding ----
         
    TIMM13 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TIMM13:
     Increased cell number in G2M,   Large nuclei 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TIMM13 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TIMM13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TIMM13 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TIMM13 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TIMM13
    1 QIAGEN miScript miRNA Assays for microRNA that regulate TIMM13:
    hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidTIMM13 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of TIMM13

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    GenScript: all cDNA clones in your preferred vector: TIMM13 (NM_012458)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM13


    (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 TIMM13 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    2Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for TIMM13
        Mitochondrial Protein Import
    Metabolism of proteins



    TIMM13 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TIMM13

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

    5/34 Interacting proteins for TIMM13 (Q9Y5L42, 3 ENSP000002155704) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRM1Q161862, 3, ENSP000002530034MINT-3373592 I2D: score=1 STRING: ENSP00000253003
    TIMM8AO602203, ENSP000003619934I2D: score=3 STRING: ENSP00000361993
    CAB39Q9Y3763, ENSP000002584184I2D: score=2 STRING: ENSP00000258418
    CUL2Q136173, ENSP000003638804I2D: score=2 STRING: ENSP00000363880
    MOB4Q9Y3A33, ENSP000003157024I2D: score=2 STRING: ENSP00000315702
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0007605sensory perception of sound TAS10552927
    GO:0015031protein transport ----
    GO:0044267cellular protein metabolic process TAS--
    GO:0072321chaperone-mediated protein transport TAS16387659

    TIMM13 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TIMM13 (TIM13)

    Search CenterWatch for drugs/clinical trials and news about TIMM13 / TIM13

    (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 TIMM13 gene: 
    NM_012458.3  

    Unigene Cluster for TIMM13:

    Translocase of inner mitochondrial membrane 13 homolog (yeast)
    Hs.75056  [show with all ESTs]
    Unigene Representative Sequence: NM_012458
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215570(uc002lvx.1) ENST00000591871
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TIMM13
    1 QIAGEN miScript miRNA Assays for microRNA that regulate TIMM13:
    hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidTIMM13 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TIMM13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TIMM13
    Clone
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    OriGene clones in human, mouse for TIMM13 (see all 7)
    OriGene ORF clones in mouse, rat for TIMM13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TIMM13 (NM_012458)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM13
    Sirion Biotech Customized lentivirus for stable overexpression of TIMM13 
                         Customized lentivirus expression plasmids for stable overexpression of TIMM13 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TIMM13
    OriGene qSTAR qPCR primer pairs in human, mouse for TIMM13
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TIMM13
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TIMM13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMM13

    Additional mRNA sequence: 

    AF144700.1 AF152352.1 AK024764.1 BC008607.1 

    22 DOTS entries:

    DT.445441  DT.100814697  DT.100814691  DT.121414517  DT.95092171  DT.121414535  DT.95126398  DT.121414205 
    DT.121414400  DT.121414433  DT.102841016  DT.121414448  DT.121414818  DT.121414227  DT.121414283  DT.121414688 
    DT.121414789  DT.95284371  DT.95296268  DT.99988806  DT.121414602  DT.121414837 

    24/529 AceView cDNA sequences (see all 529):

    AW384461 AW248577 BU553247 CA308476 AA634800 AU125319 BM687311 CA426786 
    CB134375 AL137565 BM808866 BP342038 BU521577 CR594022 BQ059144 AA973886 
    NM_012458 BU782552 BU189376 BQ883738 CD366974 BQ015233 AI969544 CR621930 

    GeneLoc Exon Structure


    (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

    TIMM13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACGTACTGC
    TIMM13 Expression
    About this image


    See TIMM13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TIMM13

    SOURCE GeneReport for Unigene cluster: Hs.75056

    UniProtKB/Swiss-Prot: TIM13_HUMAN, Q9Y5L4
    Tissue specificity: Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle

        SABiosciences Custom PCR Arrays for TIMM13
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMM13
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM13

    (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 TIMM13 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Timm131 , 5 translocase of inner mitochondrial membrane 13 homolog more5
    translocase of inner mitochondrial membrane 131
    90.53(n)1
    94.74(a)1
      10 (39.72 cM)5
    300551  NM_013895.41  NP_038923.11 
     808994505 
    chicken
    (Gallus gallus)
    Aves LOC1008593521 mitochondrial import inner membrane translocase subunit more 87.72(n)
    94.74(a)
      100859352  XM_003642834.1  XP_003642882.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.115332 Xenopus laevis transcribed sequence with strong similarity more 75.75(n)    BJ030242.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd44h112 Transcribed sequence with moderate similarity to protein more 79.12(n)    BI984821.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341321 CG34132 64.94(n)
    67.53(a)
      4379884  NM_001042879.1  NP_001036344.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tin-136
    Mitochondrial import inner membrane translocase su...
    35(a)
    1 ↔ 1
    I(8759193-8759790)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TIM13(YGR181W)4 Mitochondrial intermembrane space protein, forms a more   --   7(858287-858604) 853093  NP_011697.1 


    ENSEMBL Gene Tree for TIMM13 (if available)
    TreeFam Gene Tree for TIMM13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TIMM13 gene
    2 SIMAP similar genes for TIMM13 using alignment to 2 protein entries:     TIM13_HUMAN (see all proteins):
    TIMM8B    TIMM8A

    TIMM13 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TIMM13
    PGOHUM00000250554 PGOHUM00000249657


    (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

    10/60 SNPs in TIMM13 are shown (see all 60)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs791308821,2
    C,F--2426600(+) AGGAGG/ATGACA 1 -- ut313Minor allele frequency- A:0.06WA NA EA 358
    rs10499651,2
    A,H--2426645(-) CTTGTC/TTGGAC 1 -- ut31 ese35Minor allele frequency- T:0.00NS EA NA 414
    rs606214431,2
    C--2426664(+) CCAGA-/ATATGAG 1 -- ut310--------
    rs1447968101,2
    --2426680(+) ACTTGA/GGCACA 1 -- ut310--------
    rs1395703651,2
    C--2426697(+) GAATAC/TCCCAA 1 -- ut310--------
    rs1428605431,2
    C--2426699(+) ATACCC/TCAAAG 1 -- ut310--------
    rs1461036451,2
    --2426743(+) TCAGGA/CAGGCA 1 -- ut310--------
    rs1151536081,2
    F--2426757(+) GGCCCC/TACACC 1 -- ut311Minor allele frequency- T:0.01WA 118
    rs1422881591,2
    --2426825(+) AGTCCC/TGTGTG 1 -- ut310--------
    rs69451,2
    C,F,H--2426828(+) CCCGTC/GTGTCC 1 -- ut31 ese312Minor allele frequency- G:0.22MN NA WA CSA EA 557

    HapMap Linkage Disequilibrium report for TIMM13 (2425622 - 2427892 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for TIMM13:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664636CNV Deletion23128226
    nsv910655CNV Loss21882294
    dgv3637n71CNV Loss21882294
    nsv910660CNV Loss21882294
    dgv3638n71CNV Loss21882294
    nsv910665CNV Loss21882294
    nsv910667CNV Loss21882294
    nsv910623CNV Loss21882294
    dgv3636n71CNV Loss21882294
    dgv3639n71CNV Loss21882294

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    (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.)
    About This Section
    OMIM gene information: 607383    OMIM disorders: --

    5 diseases for TIMM13:    About MalaCards
    deafness dystonia syndrome    familial deafness    choledocholithiasis    cortical blindness
    blindness

    3 diseases from the University of Copenhagen DISEASES database for TIMM13:
    Deafness dystonia syndrome     Appendiceal neoplasm     Cortical blindness

    TIMM13 for disorders           About GeneDecksing


    Export disorders for TIMM13 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 TIMM13 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with TIMM13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (PubMed id 10552927)1, 2, 3 Jin H.... Vetrie D.L.P. (1999)
    2. 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. (2004)
    3. Conserved motifs reveal details of ancestry and structure in the small TIM chaperones of the mitochondrial intermembrane space. (PubMed id 17329230)1, 3 Gentle I.E....Lithgow T. (2007)
    4. 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. (2004)
    5. Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. (PubMed id 11489896)1, 2 Rothbauer U.... Bauer M.F. (2001)
    6. The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. (PubMed id 10611480)1, 2 Bauer M.F.... Hofmann S. (1999)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 26517 HGNC: 11816 AceView: TIMM13andMKNK2 Ensembl:ENSG00000099800 euGenes: HUgn26517
    ECgene: TIMM13 H-InvDB: TIMM13

    (According to HUGE)
    About This Section
      --

    (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 TIMM13 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TIMM13 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TIMM13 gene:
    Search GeneIP for patents involving TIMM13

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



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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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