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TIMM17B Gene

protein-coding   GIFtS: 55
GCID: GC0XM048750

Translocase Of Inner Mitochondrial Membrane 17 Homolog B...

  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
Translocase Of Inner Mitochondrial Membrane 17 Homolog B (Yeast)1 2
TIM17B2 3 5
DXS98222
Inner Mitochondrial Membrane Preprotein Translocase2
Mitochondrial Import Inner Membrane Translocase Subunit Tim17-B2

External Ids:    HGNC: 173101   Entrez Gene: 102452   Ensembl: ENSG000001267687   OMIM: 3002495   UniProtKB: O608303   

Export aliases for TIMM17B gene to outside databases

Previous GC identifers: GC0XM047553 GC0XM047011 GC0XM047796 GC0XM048506 GC0XM048635 GC0XM046406


(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 TIMM17B Gene:
This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial
translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol
across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on
chromosome 12. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for TIMM17B Gene:
TIMM17B (translocase of inner mitochondrial membrane 17 homolog B (yeast)) is a protein-coding gene. Diseases associated with TIMM17B include malaria, and mental retardation. GO annotations related to this gene include P-P-bond-hydrolysis-driven protein transmembrane transporter activity. An important paralog of this gene is TIMM17A.

UniProtKB/Swiss-Prot: TI17B_HUMAN, O60830
Function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit
peptide-containing proteins across the mitochondrial inner membrane




(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_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the TIMM17B gene promoter:
         Pax-5   Olf-1   NF-kappaB   FOXJ2 (long isoform)   Meis-1a   FOXJ2   NF-kappaB1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTIMM17B promoter sequence
   Search Chromatin IP Primers for TIMM17B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TIMM17B


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

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

TIMM17B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIMM17B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM048750:  view genomic region     (about GC identifiers)

Start:
48,750,730 bp from pter      End:
48,755,426 bp from pter
Size:
4,697 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TI17B_HUMAN, O60830 (See protein sequence)
Recommended Name: Mitochondrial import inner membrane translocase subunit Tim17-B  
Size: 172 amino acids; 18273 Da
Subunit: Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. The
complex interacts with the TIMM44 component of the PAM complex and with DNAJC15
Secondary accessions: A8K2E2 J3KPV3 Q9UJV0
Alternative splicing: 2 isoforms:  O60830-1   O60830-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TIMM17B: NX_O60830

Explore proteomics data for TIMM17B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys86
  • Modification sites at PhosphoSitePlus

  • See TIMM17B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161419.1  NP_005825.1  

    ENSEMBL proteins: 
     ENSP00000477073   ENSP00000365766   ENSP00000476861   ENSP00000477027   ENSP00000477085  
     ENSP00000379999  
    Reactome Protein details: O60830

    TIMM17B Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TIMM17B
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    Novus Biologicals TIMM17B Protein
    Novus Biologicals TIMM17B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TIMM17B

    TIMM17B Antibody Products:

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    Search LSBio for Antibodies for TIMM17B

    TIMM17B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for TIMM17B


    (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:
     IPR003397 Tim17/Tim22/Tim23/PMP24
     IPR005678 Tim17

    Graphical View of Domain Structure for InterPro Entry O60830

    ProtoNet protein and cluster: O60830

    1 Blocks protein domain: IPB003397 Mitochondrial import inner membrane translocase

    UniProtKB/Swiss-Prot: TI17B_HUMAN, O60830
    Similarity: Belongs to the Tim17/Tim22/Tim23 family


    TIMM17B 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: TI17B_HUMAN, O60830
    Function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit
    peptide-containing proteins across the mitochondrial inner membrane

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015450P-P-bond-hydrolysis-driven protein transmembrane transporter activity IEA--
         
    TIMM17B for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TIMM17B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TIMM17B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TIMM17B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TIMM17B

    miRNA
    Products:
        
    miRTarBase miRNAs that target TIMM17B:
    hsa-mir-98-5p (MIRT027417), hsa-mir-3176 (MIRT052791)

    Block miRNA regulation of human, mouse, rat TIMM17B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TIMM17B (see all 26):
    hsa-miR-607 hsa-miR-146b-3p hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-185* hsa-let-7d hsa-let-7c hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidTIMM17B 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat TIMM17B

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for TIMM17B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TIMM17B (NM_005834)
    Sino Biological Human cDNA Clone for TIMM17B
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM17B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM17B

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM17B


    (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
    TI17B_HUMAN, O60830: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytoskeleton4
    plasma membrane2
    extracellular1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane ----
    GO:0005744mitochondrial inner membrane presequence translocase complex IDA10339406
    GO:0015630microtubule cytoskeleton ----
    GO:0031305integral component of mitochondrial inner membrane IDA10339406

    TIMM17B 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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    SuperPaths for TIMM17B 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for TIMM17B
        Mitochondrial protein import



    TIMM17B for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM17B: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TIMM17B

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

    Selected Interacting proteins for TIMM17B (O608303 ENSP000003657664) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX1AQ9BQ833, ENSP000002513034I2D: score=2 STRING: ENSP00000251303
    SLX1BQ9BQ833, ENSP000003289404I2D: score=2 STRING: ENSP00000328940
    HSPA9P386463, ENSP000002971854I2D: score=2 STRING: ENSP00000297185
    TIMM44O436153, ENSP000002705384I2D: score=2 STRING: ENSP00000270538
    SNRNP200O756433, ENSP000003171234I2D: score=1 STRING: ENSP00000317123
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0006886intracellular protein transport ----
    GO:0044267cellular protein metabolic process TAS--

    TIMM17B 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 TIMM17B (TI17B)



    (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 TIMM17B gene (2 alternative transcripts): 
    NM_001167947.2  NM_005834.4  

    Unigene Cluster for TIMM17B:

    Translocase of inner mitochondrial membrane 17 homolog B (yeast)
    Hs.30570  [show with all ESTs]
    Unigene Representative Sequence: BQ073329
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465150 ENST00000376582(uc004dlc.2) ENST00000466995 ENST00000495490
    ENST00000472645 ENST00000490755 ENST00000464663 ENST00000396779(uc004dla.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat TIMM17B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TIMM17B (see all 26):
    hsa-miR-607 hsa-miR-146b-3p hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-185* hsa-let-7d hsa-let-7c hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidTIMM17B 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TIMM17B
    Predesigned siRNA for gene silencing in human, mouse, rat TIMM17B
    Clone
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    OriGene clones in human, mouse for TIMM17B (see all 11)
    OriGene ORF clones in mouse, rat for TIMM17B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TIMM17B (NM_005834)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM17B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM17B
    Primer
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    OriGene qPCR primer pairs and template standards for TIMM17B
    OriGene qSTAR qPCR primer pairs in human, mouse for TIMM17B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TIMM17B
      QuantiTect SYBR Green Assays in human, mouse, rat TIMM17B
      QuantiFast Probe-based Assays in human, mouse, rat TIMM17B

    Additional mRNA sequence: 

    AF034790.1 AF077039.1 AJ005895.1 AK290207.1 BC010142.2 BC028017.1 BC029446.1 BC091473.1 

    15 DOTS entries:

    DT.100778302  DT.121324676  DT.316251  DT.100823761  DT.101983449  DT.92431018  DT.100036699  DT.100778305 
    DT.121324649  DT.100778301  DT.121158032  DT.100773361  DT.121324644  DT.121324832  DT.91815442 

    Selected AceView cDNA sequences (see all 164):

    CR615547 BC010142 AA565249 CA421979 BU679582 BI767718 CR590343 AI581834 
    AW963383 BM703637 BC029446 CR591346 BI754472 AA371908 BX093716 CR593692 
    BM694756 BU930343 BE733200 BE798277 BM715309 CB410600 CB241910 BU500768 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TIMM17B (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                          -           -     -     -     -                                 
    SP2:                          -           -     -                                             
    SP3:                                      -     -                                             
    SP4:                                      -     -     -     -                                 
    SP5:                          -           -                                                   


    ECgene alternative splicing isoforms for TIMM17B

    (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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    TIMM17B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACGAAGTTC
    TIMM17B Expression
    About this image

    TIMM17B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TIMM17B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.30570

    UniProtKB/Swiss-Prot: TI17B_HUMAN, O60830
    Tissue specificity: Expression is abundant in heart and skeletal muscle, intermediate in brain, and weak in
    pancreas, placenta, kidney and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM17B: 
              Mitochondria in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for TIMM17B
    OriGene qSTAR qPCR primer pairs in human, mouse for TIMM17B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TIMM17B
    QuantiTect SYBR Green Assays in human, mouse, rat TIMM17B
    QuantiFast Probe-based Assays in human, mouse, rat TIMM17B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM17B

    (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 eukaryotes.

    Orthologs for TIMM17B gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Timm17b1 , 5 translocase of inner mitochondrial membrane 17b1, 5 89.53(n)1
    95.93(a)1
      X (3.56 cM)5
    218551  NM_011591.41  NP_035721.11 
     78993575 
    lizard
    (Anolis carolinensis)
    Reptilia TIMM17B6
    translocase of inner mitochondrial membrane 17 hom...
    83(a)
    1 ↔ 1
    2(86240660-86247684)
    zebrafish
    (Danio rerio)
    Actinopterygii timm17b1 translocase of inner mitochondrial membrane 17 homolog more 74.25(n)
    88.62(a)
      562144  NM_001113593.1  NP_001107065.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tim17b13
    Tim17b1
    protein transport protein translocase3
    Tim17b1
    63(a)
    (best of 5)3
    62.12(n)1
    71.43(a)1
      82F93
    33551071  NM_001015401.31  NP_001015401.11 
    worm
    (Caenorhabditis elegans)
    Secernentea E04A4.51 , 3 E04A4.51 54(a)3
    54.88(n)1
    56.46(a)1
      IV(4744699-4745784)3
    1772421  NM_068226.51  NP_500627.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TIM17(YJL143W)4
    TIM171
    Essential subunit of the Translocase of the Inner Mitochondrial more4
    TIM171
    51.21(n)1
    49.67(a)1
      10(147101-147577)4
    8532981, 4  NP_012392.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TIM17-21 TIM17-2 56.58(n)
    56.17(a)
      818317  NM_201892.1  NP_973621.1 
    rice
    (Oryza sativa)
    Liliopsida Os.119942 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.62(n)    AK069085.1 


    ENSEMBL Gene Tree for TIMM17B (if available)
    TreeFam Gene Tree for TIMM17B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TIMM17B gene
    TIMM17A2  
    2 SIMAP similar genes for TIMM17B using alignment to 5 protein entries:     TI17B_HUMAN (see all proteins):
    TIM17A    TIMM17A

    TIMM17B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TIMM17B
    PGOHUM00000239693


    (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 TIMM17B (see all 37)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30275211,2
    C,F--48750325(-) AGCACG/AGCATT 2 -- int12Minor allele frequency- A:0.00NA 4
    rs1930346101,2
    --48750337(+) AGTGTC/TCAGAA 2 -- int10--------
    rs30275201,2
    C,F,H--48750425(-) CCCCCC/AACACA 2 -- int11Minor allele frequency- A:0.02NS 98
    rs20758381,2
    C--48750442(+) GGTCAG/AGGGTG 2 -- int14Minor allele frequency- A:0.00WA NA CSA 6
    rs1411045361,2
    C--48750664(+) CAAGTC/TCCTGA 2 -- int10--------
    rs20758391,2
    C,H--48750706(+) CCCCAT/CAGGCA 2 -- int14Minor allele frequency- C:0.00NS EA 416
    rs1136040211,2
    C--48750731(+) CACATT/AGGCAT 2 -- ut311Minor allele frequency- A:0.00CSA 1
    rs1890089171,2
    --48750798(+) ACTTCA/GTACAT 2 -- ut310--------
    rs1808540161,2
    C--48751040(+) GGTAGC/TCTGGG 4 D G mis10--------
    rs2001471551,2
    --48751079(+) GGCTGA/GGGTCC 4 P L mis10--------

    HapMap Linkage Disequilibrium report for TIMM17B (48750730 - 48755426 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TIMM17B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407

    Locus Specific Mutation Databases (LSDB): TIMM17B

    Site Specific Mutation Identification with PCR Assays
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    (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: 300249    OMIM disorders: --

    2 diseases for TIMM17B:    
    About MalaCards
    malaria    mental retardation


    TIMM17B for disorders           About GeneDecksing


    Export disorders for TIMM17B 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 TIMM17B gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with TIMM17B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic and structural characterization of the human mitochondrial inner membrane translocase. (PubMed id 10339406)1, 2, 3, 9 Bauer M.F.... Hofmann S. (J. Mol. Biol. 1999)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    3. 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)
    4. 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 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    5. Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria. (PubMed id 23263864)2 Schusdziarra C....Hell K. (Hum. Mol. Genet. 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (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: 10245 HGNC: 17310 AceView: TIMM17B Ensembl:ENSG00000126768 euGenes: HUgn10245
    ECgene: TIMM17B H-InvDB: TIMM17B

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for TIMM17B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TIMM17B 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

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    Patent Information for TIMM17B gene:
    Search GeneIP for patents involving TIMM17B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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