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

TIMM50 Gene

protein-coding   GIFtS: 54
GCID: GC19P039971

translocase of inner mitochondrial membrane 50 homolog (S....

(Previous name: translocase of inner mitochondrial membrane 50 homolog...)
 Explore 3 diseases affiliated with
TIMM50 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TIMM50    

Aliases
for TIMM50 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Translocase Of Inner Mitochondrial Membrane 50 Homolog (S. Cerevisiae)1 2     Homolog Of Yeast Tim502
TIM50L1 2     Mitochondrial Import Inner Membrane Translocase Subunit TIM502
TIM502 3     Tim50-Like Protein2
Translocase Of Inner Mitochondrial Membrane 50 Homolog (Yeast)1     

External Ids:    HGNC: 236561   Entrez Gene: 926092   Ensembl: ENSG000001051977   OMIM: 6073815   UniProtKB: Q3ZCQ83   

Export aliases for TIMM50 gene to outside databases

Previous GC identifers: GC19P044662 GC19P044663 GC19P036417


Summaries
for TIMM50 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8
Function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit
peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however
such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal
body

Gene Wiki entry for TIMM50


Genomic Views
for TIMM50 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TIMM50 gene promoter:
         Max1   MAZR   AML1a   C/EBPalpha   RORalpha2   RORalpha1   AREB6   HOXA5   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TIMM50 promoter sequence
   Search SABiosciences Chromatin IP Primers for TIMM50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TIMM50


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

TIMM50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIMM50 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P039971:  view genomic region     (about GC identifiers)

Start:
 39,971,052 bp from pter      End:
 39,981,528 bp from pter
Size:
 10,477 bases      Orientation:
 plus strand

Proteins
for TIMM50 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8 (See protein sequence)
Recommended Name: Mitochondrial import inner membrane translocase subunit TIM50 precursor  
Size: 353 amino acids; 39646 Da
Subunit: Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. Interacts
directly with TIMM23. Isoform 2 interacts with COIL and snRNPs
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein
Subcellular location: Isoform 2: Nucleus speckle. Note=Nuclear and enriched in speckles with snRNPs
Sequence caution: Sequence=AAG35534.1; Type=Miscellaneous discrepancy; Note=Chimera;
Secondary accessions: Q6QA00 Q96FJ5 Q96GY2 Q9H370
Alternative splicing: 2 isoforms:  Q3ZCQ8-1   Q3ZCQ8-2   

Explore the universe of human proteins at neXtProt for TIMM50: NX_Q3ZCQ8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q3ZCQ8

    • TIMM50 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001001563.1  
    ENSEMBL proteins: 
     ENSP00000318115   ENSP00000445806  
    Reactome Protein details: Q3ZCQ8
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: TIMM50
    OriGene Custom Protein Services for TIMM50 
    GenScript Custom Purified and Recombinant Proteins Services for TIMM50
    Novus Biologicals TIMM50 Protein
    Novus Biologicals TIMM50 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TIMM50

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IDA15044455
    GO:0005744mitochondrial inner membrane presequence translocase complex IPI15044455
    GO:0016021integral to membrane IEA--
    GO:0016607nuclear speck IDA16008839


    TIMM50 for ontologies           About GeneDecksing



    TIMM50 Antibody Products: 
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    Uscn ELISAs and CLIAs for TIMM50

    Protein Domains /
    Families
    for TIMM50 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TIMM50 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR027111 Tim50
     IPR023214 HAD-like_dom
     IPR004274 NIF

    Graphical View of Domain Structure for InterPro Entry Q3ZCQ8

    ProtoNet protein and cluster: Q3ZCQ8

    UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8
    Domain: The FCP1 homology domain does not contain the canonical D-x-D-x-[TV] active site, suggesting that it probably
    does not display phosphatase activity in vivo
    Similarity: Belongs to the TIM50 family
    Similarity: Contains 1 FCP1 homology domain


    Function
    for TIMM50 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8
    Function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit
    peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however
    such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal
    body

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TIMM50
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TIMM50:
    hsa-miR-4314 hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmid: TIMM50 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TIMM50 (see all 4)
    OriGene shRNA RFP: TIMM50
    OriGene siRNA: TIMM50
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TIMM50

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM50 

    Cell Line
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    Search LifeMap BioReagents cell lines for TIMM50

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM50

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004721phosphoprotein phosphatase activity IDA15044455
    GO:0004722protein serine/threonine phosphatase activity IDA15044455
    GO:0004725protein tyrosine phosphatase activity IDA15044455
    GO:0005134interleukin-2 receptor binding IDA15044455


    TIMM50 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TIMM50:
     Decreased viability 


    Pathways & Interactions
    for TIMM50 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Mitochondrial Protein Import
    		Mitochondrial Protein Import1.00
    2Asparagine N-linked glycosylation
    		Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for TIMM50
        Mitochondrial Protein Import
    Metabolism of proteins



    TIMM50 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TIMM50

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

    5/100 Interacting proteins for TIMM50 (Q3ZCQ81, 2, 3 ENSP000003181154) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKB2Q006532, 3MINT-48726 MINT-48590 I2D: score=2 
    NFKB1P198382, 3, ENSP000002265744MINT-48664 I2D: score=1 STRING: ENSP00000226574
    IKBKGQ9Y6K92, 3MINT-48172 I2D: score=2 
    MAP3K1Q132332, 3MINT-48307 I2D: score=2 
    MAP3K14Q995582, 3MINT-48827 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001836release of cytochrome c from mitochondria IDA15044455
    GO:0006470protein dephosphorylation IDA15044455
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0007006mitochondrial membrane organization IMP15044455
    GO:0035335peptidyl-tyrosine dephosphorylation IDA15044455


    TIMM50 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TIMM50 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 TIMM50
    Search CenterWatch for drugs/clinical trials and news about TIMM50 / TIM50 

    Transcripts
    for TIMM50 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TIMM50 gene: 
    NM_001001563.1  

    Unigene Clusters for TIMM50:

    Translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
    Hs.590956  [show with all ESTs], Hs.597106  [show with all ESTs]
    Unigene Representative Sequences: AK098197, AK092396
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000314349(uc002olt.1 uc002olu.1 uc002olv.1) ENST00000544017


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TIMM50
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TIMM50:
    hsa-miR-4314 hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmid: TIMM50 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TIMM50 (see all 4)
    OriGene shRNA RFP: TIMM50
    OriGene siRNA: TIMM50
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TIMM50
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TIMM50 (NM_001001563)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM50 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TIMM50
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TIMM50
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMM50

    Additional cDNA sequence: AK092396.1 

    24/25 DOTS entries (see all 25):

    DT.101967653  DT.100677044  DT.100663830  DT.100663842  DT.456053  DT.100053373  DT.95216999  DT.100663826 
    DT.100663828  DT.100663836  DT.100663837  DT.121433001  DT.95237194  DT.95305199  DT.97838372  DT.100060041 
    DT.100663827  DT.100663831  DT.100713184  DT.100801502  DT.121433003  DT.97838355  DT.100736400  DT.121433042 

    24/475 AceView cDNA sequences (see all 475):

    CA436557 BQ687457 BU179965 BQ688419 AA626530 BQ689517 CR615287 BM747013 
    BQ691114 BQ878812 BG831224 BX102525 BQ690829 BU149860 BU186190 BE378439 
    AI802626 AA340040 CB528879 AA426088 BQ690742 BQ433064 CD365122 BQ686463 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TIMM50 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for TIMM50

    Expression
    for TIMM50 gene

    (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

    TIMM50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTCTTTGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See TIMM50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TIMM50

    SOURCE GeneReport for Unigene clusters: Hs.590956 Hs.597106

    UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8
    Tissue specificity: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Array including TIMM50: 
              Mitochondria in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM50

    Orthologs
    for TIMM50 gene

    (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 eukaryotes.

    Orthologs for TIMM50 gene from 9/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Timm501 , 5 translocase of inner mitochondrial membrane 50 homolog (yeast) less5
    translocase of inner mitochondrial membrane 501    		 87.91(n)1
    91.78(a)1    		   7 (16.67 cM)5
    665251  NM_025616.31  NP_079892.11 
     283055165 
    chicken
    (Gallus gallus)    		 Aves TIMM501 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) less 75.69(n)
    83.14(a)    		   770413  XM_001233750.2  XP_001233751.2 
    lizard
    (Anolis carolinensis)    		 Reptilia TIMM506
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL343635.1(305970-316559)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.83022 Xenopus laevis transcribed sequence with weak similarity to protein pirJC5707 (H.sapiens) JC5707 HYA22 protein - human less 73.98(n)    BJ620943.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc663572 hypothetical protein MGC66357 73.23(n)   393638  BC057522.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta ttm501 tiny tim 50 52.8(n)
    44.65(a)    		   31266  NM_130671.2  NP_570027.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea scpl-41 Protein SCPL-4 47.66(n)
    42.97(a)    		   179481  NM_073321.4  NP_505722.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G297806
    AT5G457006
    (see all 5)    		 haloacid dehalogenase-like hydrolase
    haloacid dehalogenase-like hydrolase domain-contai...
    (see all 5)    		 23(a)
    21(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 1(10426950-10427615)
    5(18537349-18538196)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 5)    		 NLI interacting factor-like phosphatase, putative,...
    NLI interacting factor-like phosphatase, putative,...
    (see all 5)    		 23(a)
    22(a)
    (see all 5)    		 many → 1
    many → 1
    (see all 5)    		 1(32071405-32081444)
    5(25384307-25389991)


    ENSEMBL Gene Tree for TIMM50 (if available)
    TreeFam Gene Tree for TIMM50 (if available) 

    Paralogs
    for TIMM50 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for TIMM50 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/279 NCBI SNPs in TIMM50 are shown (see all 279)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1135966671,2
    		C,--39969103(+) AAAAAC/ACCAAC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs126086041,2
    		C,F,H,--39969107(+) AACCAA/CCAACA 1 -- us2k12Minor allele frequency- C:0.16NA EA 240
    rs1495732201,2
    		--39969110(+) CAACAA/CCAACA 1 -- us2k10--------
    rs287017041,2
    		C,F,--39969120(+) AACAAC/AAAAAA 1 -- us2k18Minor allele frequency- A:0.38WA NA CSA EA 367
    rs58280371,2
    		C,--39969121(+) CAAAA-/CAAAAA 1 -- us2k10--------
    rs676408711,2
    		C,F,--39969125(+) AAAAAA/GACACC 1 -- us2k16Minor allele frequency- G:0.21WA NA CSA 246
    rs1847483391,2
    		--39969157(+) AGATTA/GTATAC 1 -- us2k10--------
    rs1900043741,2
    		--39969209(+) AAACAA/GTATGT 1 -- us2k10--------
    rs765420001,2
    		--39969310(+) AATTTG/TTATTT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs104049621,2
    		C,F,--39969420(+) TAATTC/TGTTTC 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for TIMM50 (39971052 - 39981528 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TIMM50: --

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    Disorders / Diseases
    for TIMM50 gene

    (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.)
    About This Section
    TIMM50 for disorders           About GeneDecksing

    OMIM gene information: 607381    OMIM disorders: --

    3 diseases for TIMM50:    About MalaCards
    spinal muscular atrophy    muscular atrophy    malaria


    Export disorders for TIMM50 gene to outside databases

    Publications
    for TIMM50 gene

    (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 TIMM50 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with TIMM50)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death. (PubMed id 15044455)1, 2, 9 Guo Y.... Alnemri E.S. (2004)
    2. Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis. (PubMed id 16008839)1, 2 Xu H.... Hebert M.D. (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. (2004)
    4. Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes. (PubMed id 12437925)1, 3 Yamamoto H....Endo T. (2002)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Biochemical and phosphoproteomic analysis of the helix -loop-helix protein E47. (PubMed id 22354994)1 Teachenor R....Murre C. (2012)
    7. Inner mitochondrial translocase Tim50 interacts with 3I^-hydroxysteroid dehydrogenase type 2 to regulate adrenal and gonadal steroido genesis. (PubMed id 21930695)1 Pawlak K.J....Bose H.S. (2011)
    8. Expression and structural characterization of human t ranslocase of inner membrane of mitochondria Tim50. (PubMed id 21742040)1 Zhang Y....Li S.J. (2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Membrane-associated ubiquitin ligase complex containi ng gp78 mediates sterol-accelerated degradation of 3-hydroxy-3-methylglutaryl-c oenzyme A reductase. (PubMed id 21343306)1 Jo Y....DeBose-Boyd R.A. (2011)

    External Searches for TIMM50 gene

    (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)

    Genome Databases showing TIMM50 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92609 HGNC: 23656 AceView: TIMM50 Ensembl:ENSG00000105197 euGenes: HUgn92609
    ECgene: TIMM50 H-InvDB: TIMM50

    Other Databases showing TIMM50 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TIMM50 gene

    (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 TIMM50 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TIMM50 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TIMM50 gene:
    Search GeneIP for patents involving TIMM50

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



    Products
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