Gene Gene information from NCBI Gene database.
Entrez ID 29928
Gene name Translocase of inner mitochondrial membrane 22
Gene symbol TIMM22
Synonyms (NCBI Gene)
COXPD43TEX4TIM22
Chromosome 17
Chromosome location 17p13.3
Summary Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of T
miRNA miRNA information provided by mirtarbase database.
370
miRTarBase ID miRNA Experiments Reference
MIRT466312 hsa-miR-4524b-3p PAR-CLIP 23592263
MIRT466311 hsa-miR-4436b-3p PAR-CLIP 23592263
MIRT466310 hsa-miR-4632-5p PAR-CLIP 23592263
MIRT466309 hsa-miR-6735-5p PAR-CLIP 23592263
MIRT466308 hsa-miR-6879-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27718247, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 32901109
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607251 17317 ENSG00000177370
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y584
Protein name Mitochondrial import inner membrane translocase subunit Tim22 (Testis-expressed protein 4)
Protein function Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gat
PDB 7CGP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02466 Tim17 69 186 Family
Sequence
Sequence length 194
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.).
3
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 43 Pathogenic rs754537066 RCV001089595
★★★★☆
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
MITOCHONDRIAL DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TIMM22-related disorder Likely benign; Benign ClinVar
★★☆☆☆
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
Cataract and cardiomyopathy Sengers syndrome BEFREE 28712724
★☆☆☆☆
Found in Text Mining only
Cataract and cardiomyopathy Sengers syndrome Pubtator 28712724, 28712726, 39824030 Associate
★☆☆☆☆
Found in Text Mining only
Mitochondrial Myopathies Mitochondrial myopathy BEFREE 30452684
★☆☆☆☆
Found in Text Mining only
Mitochondrial Myopathies Mitochondrial myopathy Pubtator 30452684 Associate
★☆☆☆☆
Found in Text Mining only