TIMM21 (translocase of inner mitochondrial membrane 21)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 29090
Gene name Translocase of inner mitochondrial membrane 21
Gene symbol TIMM21
Synonyms (NCBI Gene)
C18orf55HSPC154TIM21
Chromosome 18
Chromosome location 18q22.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 23260140, 26321642, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane NAS 10339406
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615180 25010 ENSG00000075336
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BVV7
Protein name Mitochondrial import inner membrane translocase subunit Tim21 (TIM21-like protein, mitochondrial)
Protein function Participates in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial tr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08294 TIM21 100 → 244 TIM21 Domain
Sequence 
MICTFLRAVQYTEKLHRSSAKRLLLPYIVLNKACLKTEPSLRCGLQYQKKTLRPRCILGV
TQKTIWTQGPSPRKAKEDGSKQVSVHRSQRGGTAVPTSQKVKEAGRDFTYLIVVLFGISI
TGGLFYTIFKELFSSSSPSKIYGRALEKCRSHPEVIGVFGESVKGYGEVTRRGRRQHVRF
TEYVKDGLKHTCVKFYIEGSEPGKQGTVYAQVKENPGSGEYDFRYIFVEIESYPRRTIII
EDNRSQDD
Sequence length 248
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations