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 tr... See more...

Aliases for TIMM17B Gene

Aliases for TIMM17B Gene

  • Translocase Of Inner Mitochondrial Membrane 17B 2 3 5
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim17-B 3 4
  • TIM17B 3 4
  • Translocase Of Inner Mitochondrial Membrane 17 Homolog B (Yeast) 2
  • Translocase Of Inner Mitochondrial Membrane 17 Homolog B 3
  • Inner Mitochondrial Membrane Preprotein Translocase 3
  • DXS9822 3
  • JM3 3

External Ids for TIMM17B Gene

Previous GeneCards Identifiers for TIMM17B Gene

  • GC0XM047553
  • GC0XM047011
  • GC0XM047796
  • GC0XM048506
  • GC0XM048635
  • GC0XM048750
  • GC0XM046406

Summaries for TIMM17B Gene

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 17B) is a Protein Coding gene. Diseases associated with TIMM17B include Renpenning Syndrome 1. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. Gene Ontology (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 Summary for TIMM17B Gene

  • Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.

Additional gene information for TIMM17B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM17B Gene

Genomics for TIMM17B Gene

GeneHancer (GH) Regulatory Elements for TIMM17B Gene

Promoters and enhancers for TIMM17B 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 TIMM17B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TIMM17B gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • Meis-1a
  • MRF-2
  • NF-kappaB
  • NF-kappaB1
  • Olf-1
  • Pax-5

Genomic Locations for TIMM17B Gene

Genomic Locations for TIMM17B Gene
chrX:48,893,447-48,898,143
(GRCh38/hg38)
Size:
4,697 bases
Orientation:
Minus strand
chrX:48,750,730-48,755,426
(GRCh37/hg19)
Size:
4,697 bases
Orientation:
Minus strand

Genomic View for TIMM17B Gene

Genes around TIMM17B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM17B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM17B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM17B Gene

Proteins for TIMM17B Gene

  • Protein details for TIMM17B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60830-TI17B_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim17-B
    Protein Accession:
    O60830
    Secondary Accessions:
    • A8K2E2
    • J3KPV3
    • Q9UJV0

    Protein attributes for TIMM17B Gene

    Size:
    172 amino acids
    Molecular mass:
    18273 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for TIMM17B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TIMM17B Gene

Post-translational modifications for TIMM17B Gene

Other Protein References for TIMM17B Gene

No data available for DME Specific Peptides for TIMM17B Gene

Domains & Families for TIMM17B Gene

Gene Families for TIMM17B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TIMM17B Gene

Suggested Antigen Peptide Sequences for TIMM17B Gene

GenScript: Design optimal peptide antigens:
  • TIMM17B protein (Q8NCS3_HUMAN)
  • Mitochondrial import inner membrane translocase subunit Tim17-B (TI17B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60830

UniProtKB/Swiss-Prot:

TI17B_HUMAN :
  • Belongs to the Tim17/Tim22/Tim23 family.
Family:
  • Belongs to the Tim17/Tim22/Tim23 family.
genes like me logo Genes that share domains with TIMM17B: view

Function for TIMM17B Gene

Molecular function for TIMM17B Gene

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

Phenotypes From GWAS Catalog for TIMM17B Gene

Gene Ontology (GO) - Molecular Function for TIMM17B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23263864
GO:0008320 contributes_to protein transmembrane transporter activity IBA 21873635
GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with TIMM17B: view
genes like me logo Genes that share phenotypes with TIMM17B: view

Animal Model Products

CRISPR Products

miRNA for TIMM17B Gene

miRTarBase miRNAs that target TIMM17B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM17B Gene

Localization for TIMM17B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM17B Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

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 TIMM17B gene
Compartment Confidence
mitochondrion 5
cytoskeleton 2
plasma membrane 1
extracellular 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TIMM17B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IDA 20053669
GO:0005744 TIM23 mitochondrial import inner membrane translocase complex IDA,IBA 10339406
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TIMM17B: view

Pathways & Interactions for TIMM17B Gene

PathCards logo

SuperPathways for TIMM17B Gene

genes like me logo Genes that share pathways with TIMM17B: view

Pathways by source for TIMM17B Gene

2 Reactome pathways for TIMM17B Gene

Gene Ontology (GO) - Biological Process for TIMM17B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS 10339406
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IBA 21873635
genes like me logo Genes that share ontologies with TIMM17B: view

No data available for SIGNOR curated interactions for TIMM17B Gene

Drugs & Compounds for TIMM17B Gene

No Compound Related Data Available

Transcripts for TIMM17B Gene

mRNA/cDNA for TIMM17B Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM17B Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: - -
SP6: -

Relevant External Links for TIMM17B Gene

GeneLoc Exon Structure for
TIMM17B
ECgene alternative splicing isoforms for
TIMM17B

Expression for TIMM17B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM17B Gene

Protein differential expression in normal tissues from HIPED for TIMM17B Gene

This gene is overexpressed in Pancreas (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TIMM17B Gene



Protein tissue co-expression partners for TIMM17B Gene

NURSA nuclear receptor signaling pathways regulating expression of TIMM17B Gene:

TIMM17B

SOURCE GeneReport for Unigene cluster for TIMM17B Gene:

Hs.30570

mRNA Expression by UniProt/SwissProt for TIMM17B Gene:

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

Evidence on tissue expression from TISSUES for TIMM17B Gene

  • Nervous system(4.5)
  • Blood(4.1)
  • Lung(2.5)
  • Muscle(2)
genes like me logo Genes that share expression patterns with TIMM17B: view

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 TIMM17B Gene

Orthologs for TIMM17B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TIMM17B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM17B 33 32
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TIMM17B 33 32
  • 92.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TIMM17B 33 32
  • 91.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 91 (a)
OneToMany
-- 33
  • 67 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Timm17b 17 33 32
  • 89.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TIMM17B 33
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TIMM17B 33
  • 83 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii timm17b 33 32
  • 74.25 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4689 32
fruit fly
(Drosophila melanogaster)
Insecta Tim17b 33 32
  • 62.12 (n)
ManyToMany
Tim17b2 33 34
  • 54 (a)
ManyToMany
CG1724 33 34
  • 52 (a)
ManyToMany
Tim17b1 33 34
  • 51 (a)
ManyToMany
Tim17a1 33 34
  • 35 (a)
ManyToMany
Tim17a2 33 34
  • 34 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004657 32
  • 60.25 (n)
worm
(Caenorhabditis elegans)
Secernentea E04A4.5 33 34 32
  • 54.88 (n)
ManyToMany
D2096.1 33
  • 30 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR248W 32
  • 56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05841g 32
  • 55.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM17 35 33 32
  • 51.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TIM17-2 32
  • 56.58 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1714 32
rice
(Oryza sativa)
Liliopsida Os07g0604500 32
  • 58.73 (n)
Os.11994 32
corn
(Zea mays)
Liliopsida Zm.13937 32
bread mold
(Neurospora crassa)
Ascomycetes NCU05623 32
  • 56.6 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tim17 32
  • 52.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4827 33
  • 51 (a)
OneToMany
Species where no ortholog for TIMM17B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TIMM17B Gene

ENSEMBL:
Gene Tree for TIMM17B (if available)
TreeFam:
Gene Tree for TIMM17B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM17B: view image

Paralogs for TIMM17B Gene

Paralogs for TIMM17B Gene

(2) SIMAP similar genes for TIMM17B Gene using alignment to 5 proteins:

  • TI17B_HUMAN
  • Q8NCS3_HUMAN
  • V9GYK7_HUMAN
  • V9GYS0_HUMAN
  • V9GYU0_HUMAN

Pseudogenes.org Pseudogenes for TIMM17B Gene

genes like me logo Genes that share paralogs with TIMM17B: view

Variants for TIMM17B Gene

Sequence variations from dbSNP and Humsavar for TIMM17B Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1006576758 uncertain-significance, Renpenning syndrome 1 48,898,296(-) A/G upstream_transcript_variant
rs150603792 likely-benign, Renpenning syndrome 1 48,898,423(-) C/T upstream_transcript_variant
rs1000005024 -- 48,895,294(-) T/A intron_variant
rs1000440016 -- 48,895,864(-) G/T intron_variant
rs1001415677 -- 48,897,616(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TIMM17B Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv528292 CNV gain 19592680

Variation tolerance for TIMM17B Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIMM17B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM17B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM17B Gene

Disorders for TIMM17B Gene

MalaCards: The human disease database

(1) MalaCards diseases for TIMM17B Gene - From: GeneCards

Disorder Aliases PubMed IDs
renpenning syndrome 1
  • rens1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TIMM17B

genes like me logo Genes that share disorders with TIMM17B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TIMM17B Gene

Publications for TIMM17B Gene

  1. Genetic and structural characterization of the human mitochondrial inner membrane translocase. (PMID: 10339406) Bauer MF … Hofmann S (Journal of molecular biology 1999) 2 3 4 23 56
  2. Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria. (PMID: 23263864) Schusdziarra C … Hell K (Human molecular genetics 2013) 3 4 56
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 56
  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 56
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 56

Products for TIMM17B Gene

  • Biorbyt antibodies for TIMM17B

Sources for TIMM17B Gene