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 in... See more...

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 4
  • TIM8B 2 3 4
  • DDP2 2 3 4
  • Deafness Dystonia Protein 2 3 4
  • DDP-Like Protein 3 4
  • Translocase Of Inner Mitochondrial Membrane 8 Homolog B (Yeast) 2
  • MGC102866 2
  • MGC117373 2
  • FLJ21744 2
  • TIMM8B 5
  • 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. Diseases associated with TIMM8B include Dystonia and Mohr-Tranebjaerg Syndrome. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. An important paralog of this gene is TIMM8A.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TIMM8B Gene

Genomics for TIMM8B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TIMM8B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TIMM8B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TIMM8B

Top Transcription factor binding sites by QIAGEN in the TIMM8B gene promoter:
  • AML1a
  • AREB6
  • FOXD3
  • FOXO3
  • FOXO3b
  • Nkx6-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha1

Genomic Locations for TIMM8B Gene

Latest Assembly
chr11:112,084,800-112,086,798
(GRCh38/hg38)
Size:
1,999 bases
Orientation:
Minus strand

Previous Assembly
chr11:111,955,524-111,957,480
(GRCh37/hg19 by Entrez Gene)
Size:
1,957 bases
Orientation:
Minus strand

chr11:111,955,524-111,957,522
(GRCh37/hg19 by Ensembl)
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

No data available for DME Specific Peptides for TIMM8B Gene

Domains & Families for TIMM8B Gene

Gene Families for TIMM8B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TIMM8B Gene

InterPro:
Blocks:
  • Zn-finger, Tim10/DDP type

Suggested Antigen Peptide Sequences for TIMM8B Gene

GenScript: Design optimal peptide antigens:
  • Deafness dystonia protein 2 (TIM8B_HUMAN)

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

Function for TIMM8B Gene

Molecular function for TIMM8B Gene

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).
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

Phenotypes From GWAS Catalog for TIMM8B Gene

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 --
genes like me logo Genes that share ontologies with TIMM8B: view
genes like me logo Genes that share phenotypes with TIMM8B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM8B

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 4
cytosol 3
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TIMM8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TIMM8B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TIMM8B Gene

Pathways & Interactions for TIMM8B Gene

PathCards logo

SuperPathways 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:0007605 sensory perception of sound TAS 10552927
GO:0015031 protein transport IEA --
GO:0045039 protein import into mitochondrial inner membrane ISS --
GO:0072321 chaperone-mediated protein transport IEA,TAS 16387659
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

mRNA/cDNA for TIMM8B Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM8B

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

Expression for TIMM8B Gene

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



Protein tissue co-expression partners for TIMM8B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Nervous system(4.4)
  • Lung(4.3)
  • Muscle(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with TIMM8B: view

Primer products for research

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 29 30
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TIMM8B 29 30
  • 92.37 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TIMM8B 30
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Timm8b 29 16 30
  • 89.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Timm8b 29
  • 88.35 (n)
Dog
(Canis familiaris)
Mammalia TIMM8B 29 30
  • 88.1 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia timm8b 29
  • 72.37 (n)
Str.7478 29
Zebrafish
(Danio rerio)
Actinopterygii timm8b 29 30
  • 69.3 (n)
OneToOne
Dr.15018 29
Fruit Fly
(Drosophila melanogaster)
Insecta Tim8 29 30
  • 60.53 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010606 29
  • 60.49 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM8 30
  • 30 (a)
OneToMany
Species where no ortholog for TIMM8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM8B: view image
Alliance of Genome Resources:
Additional Orthologs for TIMM8B

Paralogs for TIMM8B Gene

Paralogs for TIMM8B Gene

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

  • TIM8B_HUMAN
  • E9PIR3_HUMAN
  • G3XAN8_HUMAN

Pseudogenes.org Pseudogenes for TIMM8B Gene

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

Variants for TIMM8B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TIMM8B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TIMM8B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM8B
Leiden Open Variation Database (LOVD)
TIMM8B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TIMM8B Gene

Disorders for TIMM8B Gene

MalaCards: The human disease database

(3) MalaCards diseases for TIMM8B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
dystonia
  • dystonic disease
mohr-tranebjaerg syndrome
  • mts
tylosis with esophageal cancer
  • toc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TIMM8B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TIMM8B: view

No data available for 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 DL (Genomics 1999) 2 3 4
  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 SD … DREAM investigators (Diabetes care 2010) 3 40
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. (PMID: 10611480) Bauer MF … Hofmann S (FEBS letters 1999) 3 4

Products for TIMM8B Gene

Sources for TIMM8B Gene