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

TIMM23B Gene

protein-coding   GIFtS: 31
GCID: GC10P051371          (predicted)

translocase of inner mitochondrial membrane 23 homolog B...

  Search for TIMM23B
in our new
 Human Malady Compendium 
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(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 23 Homolog B (Yeast)1 2
BA592B15.71
TIMM232
Putative Mitochondrial Import Inner Membrane Translocase Subunit Tim23B2

External Ids:    HGNC: 235811   Entrez Gene: 6532522   Ensembl: ENSG000002041527   UniProtKB: Q5SRD13   

Export aliases for TIMM23B gene to outside databases

Previous GC identifers: GC10U900492 GC10P051042


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

UniProtKB/Swiss-Prot: TI23B_HUMAN, Q5SRD1
Function: May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner
membrane. the PAM complex (By similarity)




(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
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TIMM23B
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTIMM23B promoter sequence
   Search SABiosciences Chromatin IP Primers for TIMM23B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TIMM23B


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

Entrez Gene cytogenetic band: 10q11.23   Ensembl cytogenetic band:  10q11.23   HGNC cytogenetic band: 10q11.23

TIMM23B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIMM23B gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P051371:  view genomic region     (about GC identifiers)

Start:
51,371,379 bp from pter      End:
51,734,610 bp from pter
Size:
363,232 bases      Orientation:
plus strand

(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: TI23B_HUMAN, Q5SRD1 (See protein sequence)
Recommended Name: Putative mitochondrial import inner membrane translocase subunit Tim23B  
Size: 257 amino acids; 28048 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Caution: Could be the product of a pseudogene
Secondary accessions: Q5SRD2

Explore the universe of human proteins at neXtProt for TIMM23B: NX_Q5SRD1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5SRD1

  • TIMM23B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).


    ENSEMBL proteins: 
     ENSP00000363211   ENSP00000363210   ENSP00000389331   ENSP00000409439  

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    Uscn Proteins for TIMM23B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005744mitochondrial inner membrane presequence translocase complex IEA--
    GO:0016021integral to membrane IEA--


    TIMM23B for ontologies           About GeneDecksing



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

    TIMM23B for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003397 Tim17/Tim22/Tim23/PMP24
     IPR005681 Tim23

    Graphical View of Domain Structure for InterPro Entry Q5SRD1

    ProtoNet protein and cluster: Q5SRD1

    1 Blocks protein family: IPB003397 Mitochondrial import inner membrane translocase

    UniProtKB/Swiss-Prot: TI23B_HUMAN, Q5SRD1
    Similarity: Belongs to the Tim17/Tim22/Tim23 family


    (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: TI23B_HUMAN, Q5SRD1
    Function: May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner
    membrane. the PAM complex (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0015450P-P-bond-hydrolysis-driven protein transmembrane transporter activity IEA--


    TIMM23B for ontologies           About GeneDecksing



    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TIMM23B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0008150biological_process ND--


    TIMM23B for ontologies           About GeneDecksing



    (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 TIMM23B
    Search CenterWatch for drugs/clinical trials and news about TIMM23B / TI23B 

    (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,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478381 ENST00000462932(uc001jin.3) ENST00000374098 ENST00000483296
    ENST00000374097 ENST00000451577 ENST00000429265(uc010qha.2 uc010qhb.2 uc010qhc.2 uc001jiv.1)


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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TIMM23B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMM23B

    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

    TIMM23B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TIMM23B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TIMM23B
        SABiosciences Custom PCR Arrays for TIMM23B
    Primer
    Products:
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TIMM23B gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TIMM236
    Uncharacterized protein
    76(a)
    1 → many
    6(3772997-3789651)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    76(a)
    1 → many
    GL343199.1(3842803-3863368)
    zebrafish
    (Danio rerio)
    Actinopterygii timm236
    translocase of inner mitochondrial membrane 23 hom...
    63(a)
    1 → many
    12(36272047-36276784)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG400426
    --
    36(a)
    1 → many
    2LHet(167980-169093)
    worm
    (Caenorhabditis elegans)
    Secernentea F15D3.76
    Protein F15D3.7
    18(a)
    1 → many
    I(11578630-11579603)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATTIM23-36
    ATTIM23-26
    (see all 3)
    translocase inner membrane subunit 23-2
    (see all 3)
    21(a)
    19(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3(1314479-1315045)
    1(27383365-27384524)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 5)
    mitochondrial import inner membrane translocase su...
    mitochondrial import inner membrane translocase su...
    (see all 5)
    21(a)
    20(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    10(20023987-20025017)
    2(27351715-27353791)


    ENSEMBL Gene Tree for TIMM23B (if available)
    TreeFam Gene Tree for TIMM23B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TIMM23B gene
    TIMM232  
    1 SIMAP similar gene for TIMM23B using alignment to 5 protein entries:     TI23B_HUMAN (see all proteins):
    TIMM23

    TIMM23B for paralogs           About GeneDecksing



    (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

    10/61 NCBI SNPs in TIMM23B are shown (see all 61    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011706581,2
    --51373820(+) AAGTT-/TGTGTTT 2 -- int10--------
    rs781152951,2
    C--51374253(+) TTTTCT/CGCCTT 2 -- int12Minor allele frequency- C:0.25NA 4
    rs2001964381,2
    F--51374391(+) TCTGTC/GTCCTT 4 S C mis11Minor allele frequency- G:0.01EU 400
    rs2022221451,2
    --51375768(+) ATGAC-/ATGATCTT 2 -- int10--------
    rs2002869321,2
    --51377208(+) GTCTC-/AGTG  
            
    AGCAT
    2 -- int10--------
    rs560102461,2
    C--51378184(-) TATCAC/TACAAT 2 -- int10--------
    rs1168097641,2
    C,--51379706(+) TAACAA/GCCTTG 2 -- int10--------
    rs2014245351,2
    --51383566(+) CTGGG-/ATCA  
            
    TGTTA
    2 -- int10--------
    rs1847983281,2
    --51386748(+) GCCCAA/GACTGG 1 -- int10--------
    rs2019734751,2
    ----51374435(+) TAAGAC/TTAAGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for TIMM23B (51371379 - 51621379 bp, first 250kb of TIMM23B)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TIMM23B: --

    SABiosciences Cancer Mutation 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.)
    About This Section
      --

    (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 TIMM23B gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with TIMM23B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    2. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death. (PubMed id 15044455)1 Guo Y.... Alnemri E.S. (2004)
    9. Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes. (PubMed id 12437925)1 Yamamoto H....Endo T. (2002)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 653252 HGNC: 23581 Ensembl:ENSG00000204152 euGenes: HUgn653252 ECgene: TIMM23B
    H-InvDB: TIMM23B

    (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 TIMM23B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TIMM23B gene:
    Search GeneIP for patents involving TIMM23B

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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