Gene Gene information from NCBI Gene database.
Entrez ID 54543
Gene name Translocase of outer mitochondrial membrane 7
Gene symbol TOMM7
Synonyms (NCBI Gene)
GMPGSTOM7
Chromosome 7
Chromosome location 7p15.3
Summary This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]
miRNA miRNA information provided by mirtarbase database.
172
miRTarBase ID miRNA Experiments Reference
MIRT040020 hsa-miR-615-3p CLASH 23622248
MIRT1446947 hsa-miR-106a CLIP-seq
MIRT1446948 hsa-miR-106b CLIP-seq
MIRT1446949 hsa-miR-1227 CLIP-seq
MIRT1446950 hsa-miR-134 CLIP-seq
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 12198123, 30021884, 35271311
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 12198123
GO:0005739 Component Mitochondrion IEA
GO:0005741 Component Mitochondrial outer membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607980 21648 ENSG00000196683
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0U1
Protein name Mitochondrial import receptor subunit TOM7 homolog (Translocase of outer membrane 7 kDa subunit homolog)
Protein function Required for assembly and stability of the TOM complex. Positive regulator of PRKN translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria. {ECO:0000269|PubMed:18331822, ECO:000
PDB 7CK6 , 7CP9 , 7VBY , 7VC4 , 7VD2 , 7VDD , 8XVA , 9EIH , 9EII , 9EIJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08038 Tom7 9 53 TOM7 family Family
Sequence
Sequence length 55
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal   Pink/Parkin Mediated Mitophagy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
Garg-Mishra progeroid syndrome Likely pathogenic; Pathogenic rs1782411099, rs778567973 RCV003403732
RCV003397172
★★★★☆
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
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cutis Laxa Autosomal Recessive Type IIB Associate 36282599
★☆☆☆☆
Found in Text Mining only
Growth Disorders Associate 36282599
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Associate 24270810, 33536081
★☆☆☆☆
Found in Text Mining only
Progeria Associate 36282599
★☆☆☆☆
Found in Text Mining only
Progeroid syndrome neonatal Associate 36282599
★☆☆☆☆
Found in Text Mining only