Gene Gene information from NCBI Gene database.
Entrez ID 51372
Gene name Translation machinery associated 7 homolog
Gene symbol TMA7
Synonyms (NCBI Gene)
CCDC72HSPC016
Chromosome 3
Chromosome location 3p21.31
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615808 26932 ENSG00000232112
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2S6
Protein name Translation machinery-associated protein 7 (Coiled-coil domain-containing protein 72)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09072 TMA7 3 64 Translation machinery associated TMA7 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in dermal papilla cells with aggregative behavior. {ECO:0000269|PubMed:16096800}.
Sequence
Sequence length 64
Interactions View interactions
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
PRION DISEASE 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
Laryngeal Neoplasms Laryngeal neoplasm Pubtator 37056932 Associate
★☆☆☆☆
Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia Myeloproliferative disorder Pubtator 37056932 Associate
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 37056932 Stimulate
★☆☆☆☆
Found in Text Mining only