Gene Gene information from NCBI Gene database.
Entrez ID 10440
Gene name Translocase of inner mitochondrial membrane 17A
Gene symbol TIMM17A
Synonyms (NCBI Gene)
TIM17TIM17A
Chromosome 1
Chromosome location 1q32.1
miRNA miRNA information provided by mirtarbase database.
398
miRTarBase ID miRNA Experiments Reference
MIRT019841 hsa-miR-375 Microarray 20215506
MIRT028479 hsa-miR-30a-5p Proteomics 18668040
MIRT031758 hsa-miR-16-5p Proteomics 18668040
MIRT112108 hsa-miR-520d-3p PAR-CLIP 20371350
MIRT112100 hsa-miR-520e PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 10339406, 20053669
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605057 17315 ENSG00000134375
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99595
Protein name Mitochondrial import inner membrane translocase subunit Tim17-A (Inner membrane preprotein translocase Tim17a)
Protein function Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02466 Tim17 13 123 Family
Sequence
Sequence length 171
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial protein import
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brain Ischemia Cerebral Ischemia BEFREE 30431067
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20198662, 20972741, 26977020, 31344855
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 20198662, 20972741, 26977020, 31344855
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial Diseases BEFREE 18826960
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 18826960 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 20972741
★☆☆☆☆
Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia Visceral neuropathy Pubtator 18826960 Associate
★☆☆☆☆
Found in Text Mining only