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Aliases for TIMM8B Gene

Aliases for TIMM8B Gene

  • Translocase Of Inner Mitochondrial Membrane 8 Homolog B 2 3 5
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim8 B 2 3
  • Deafness Dystonia Protein 2 3 4
  • DDP-Like Protein 3 4
  • TIM8B 3 4
  • DDP2 3 4
  • Translocase Of Inner Mitochondrial Membrane 8 Homolog B (Yeast) 2
  • DDPL 4

External Ids for TIMM8B Gene

Previous GeneCards Identifiers for TIMM8B Gene

  • GC11M114308
  • GC11M113467
  • GC11M111989
  • GC11M111493
  • GC11M111461
  • GC11M107879

Summaries for TIMM8B Gene

Entrez Gene Summary for TIMM8B Gene

  • This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]

GeneCards Summary for TIMM8B Gene

TIMM8B (Translocase Of Inner Mitochondrial Membrane 8 Homolog B) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. An important paralog of this gene is TIMM8A.

UniProtKB/Swiss-Prot for TIMM8B Gene

  • Probable 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 (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM8B Gene

Genomics for TIMM8B Gene

Regulatory Elements for TIMM8B Gene

Enhancers for TIMM8B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G111934 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +146.7 146734 11.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 PPP2R1B SDHD C11orf52 HSPB2-C11orf52 HSPB2 TIMM8B FDXACB1 C11orf1 ALG9 PIH1D2
GH11G112155 1.6 FANTOM5 Ensembl ENCODE 10.8 -74.7 -74745 11.5 FOXA2 SIN3A FEZF1 BRCA1 YY1 FOS ZHX2 REST MIER2 CREB3 IL18 BCO2 SDHD TIMM8B C11orf88
GH11G112119 1.4 FANTOM5 Ensembl ENCODE 11.5 -34.1 -34073 3.1 BCOR PKNOX1 ZNF146 JUN ZMYM3 GATA2 EED FOS JUNB CEBPB IL18 SDHD TIMM8B TEX12 BCO2 LOC101928847 ALG9
GH11G112225 1.3 ENCODE dbSUPER 10.8 -141.4 -141438 5.3 FOXA2 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS LOC283140 PLET1 SDHD TIMM8B BCO2 PTS RPS6P16
GH11G112016 1.1 Ensembl ENCODE 10.6 +69.7 69686 2.0 PKNOX1 FOXA2 ATF1 RAD21 RARA KAT2B GATA4 GATA2 CBX5 FOS PIH1D2 C11orf57 SDHD TIMM8B FDXACB1 C11orf1 ALG9 GC11M112018 ENSG00000255334
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TIMM8B on UCSC Golden Path with GeneCards custom track

Promoters for TIMM8B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000044956 -2 2001 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for TIMM8B Gene

Chromosome:
11
Start:
112,084,800 bp from pter
End:
112,086,798 bp from pter
Size:
1,999 bases
Orientation:
Minus strand

Genomic View for TIMM8B Gene

Genes around TIMM8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM8B Gene

Proteins for TIMM8B Gene

  • Protein details for TIMM8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5J9-TIM8B_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim8 B
    Protein Accession:
    Q9Y5J9
    Secondary Accessions:
    • B0YJA5
    • Q3KQS9
    • Q9UN04

    Protein attributes for TIMM8B Gene

    Size:
    83 amino acids
    Molecular mass:
    9344 Da
    Quaternary structure:
    • Heterohexamer; possibly composed of 3 copies of TIMM8B and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22 (By similarity).

neXtProt entry for TIMM8B Gene

Post-translational modifications for TIMM8B Gene

  • Ubiquitination at Lys80
  • Modification sites at PhosphoSitePlus

Other Protein References for TIMM8B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TIMM8B Gene

Domains & Families for TIMM8B Gene

Protein Domains for TIMM8B Gene

Suggested Antigen Peptide Sequences for TIMM8B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5J9

UniProtKB/Swiss-Prot:

TIM8B_HUMAN :
  • The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM8B from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).
  • Belongs to the small Tim family.
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 TIMM8B from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).
Family:
  • Belongs to the small Tim family.
genes like me logo Genes that share domains with TIMM8B: view

No data available for Gene Families for TIMM8B Gene

Function for TIMM8B Gene

Molecular function for TIMM8B Gene

GENATLAS Biochemistry:
translocase of inner mitochondrial membrane 8 (yeast) homolog B,ubiquitously expressed,highly in cardiac and skeletal muscle,S cerevisiae Tim8p ortholog,component of the Tm complex
UniProtKB/Swiss-Prot Function:
Probable 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 (By similarity).

Gene Ontology (GO) - Molecular Function for TIMM8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding TAS 10552927
GO:0046872 metal ion binding IEA --
GO:0046873 metal ion transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with TIMM8B: view
genes like me logo Genes that share phenotypes with TIMM8B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM8B Gene

Localization for TIMM8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM8B Gene

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TIMM8B gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for TIMM8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IBA,IEA --
GO:0042719 mitochondrial intermembrane space protein transporter complex TAS 10552927
genes like me logo Genes that share ontologies with TIMM8B: view

Pathways & Interactions for TIMM8B Gene

genes like me logo Genes that share pathways with TIMM8B: view

Pathways by source for TIMM8B Gene

2 Reactome pathways for TIMM8B Gene

Gene Ontology (GO) - Biological Process for TIMM8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS 10552927
GO:0006810 transport IEA --
GO:0007605 sensory perception of sound TAS 10552927
GO:0015031 protein transport IEA --
GO:0030001 metal ion transport IEA --
genes like me logo Genes that share ontologies with TIMM8B: view

No data available for SIGNOR curated interactions for TIMM8B Gene

Drugs & Compounds for TIMM8B Gene

No Compound Related Data Available

Transcripts for TIMM8B Gene

Unigene Clusters for TIMM8B Gene

Translocase of inner mitochondrial membrane 8 homolog B (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM8B Gene

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

Relevant External Links for TIMM8B Gene

GeneLoc Exon Structure for
TIMM8B
ECgene alternative splicing isoforms for
TIMM8B

Expression for TIMM8B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM8B Gene

Protein differential expression in normal tissues from HIPED for TIMM8B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.0), Bone (8.4), and Gallbladder (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TIMM8B Gene



Protein tissue co-expression partners for TIMM8B Gene

NURSA nuclear receptor signaling pathways regulating expression of TIMM8B Gene:

TIMM8B

SOURCE GeneReport for Unigene cluster for TIMM8B Gene:

Hs.279915

mRNA Expression by UniProt/SwissProt for TIMM8B Gene:

Q9Y5J9-TIM8B_HUMAN
Tissue specificity: Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle.

Evidence on tissue expression from TISSUES for TIMM8B Gene

  • Heart(4.4)
  • Lung(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TIMM8B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM8B Gene

Orthologs for TIMM8B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TIMM8B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM8B 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia TIMM8B 34 35
  • 92.37 (n)
oppossum
(Monodelphis domestica)
Mammalia TIMM8B 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Timm8b 34 16 35
  • 89.56 (n)
rat
(Rattus norvegicus)
Mammalia Timm8b 34
  • 88.35 (n)
dog
(Canis familiaris)
Mammalia TIMM8B 34 35
  • 88.1 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia timm8b 34
  • 72.37 (n)
Str.7478 34
zebrafish
(Danio rerio)
Actinopterygii timm8b 34 35
  • 69.3 (n)
Dr.15018 34
fruit fly
(Drosophila melanogaster)
Insecta Tim8 34 35
  • 60.53 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010606 34
  • 60.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM8 35
  • 30 (a)
OneToMany
Species where no ortholog for TIMM8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TIMM8B Gene

ENSEMBL:
Gene Tree for TIMM8B (if available)
TreeFam:
Gene Tree for TIMM8B (if available)

Paralogs for TIMM8B Gene

Paralogs for TIMM8B Gene

(2) SIMAP similar genes for TIMM8B Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for TIMM8B Gene

genes like me logo Genes that share paralogs with TIMM8B: view

Variants for TIMM8B Gene

Sequence variations from dbSNP and Humsavar for TIMM8B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894303 Pathogenic 112,087,910(+) TTCTT(C/T)AGGAC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs104894305 Pathogenic 112,087,899(+) TATCT(A/C)AGCAT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs104894306 Pathogenic 112,087,868(+) TGCTT(C/T)GAACT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs104894307 Pathogenic 112,086,908(+) ACGAG(A/G/T)TGGCG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs104894308 Pathogenic 112,087,933(+) GAATG(A/G)TGTGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for TIMM8B Gene

Variant ID Type Subtype PubMed ID
esv2745077 CNV deletion 23290073

Variation tolerance for TIMM8B Gene

Residual Variation Intolerance Score: 56.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TIMM8B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM8B Gene

Disorders for TIMM8B Gene

Relevant External Links for TIMM8B

Genetic Association Database (GAD)
TIMM8B
Human Genome Epidemiology (HuGE) Navigator
TIMM8B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TIMM8B

No disorders were found for TIMM8B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TIMM8B Gene

Publications for TIMM8B Gene

  1. The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (PMID: 10552927) Jin H. … Vetrie D.L.P. (Genomics 1999) 2 3 4 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. (PMID: 10611480) Bauer M.F. … Hofmann S. (FEBS Lett. 1999) 3 4 64

Products for TIMM8B Gene

Sources for TIMM8B Gene

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