Gene Gene information from NCBI Gene database.
Entrez ID 55287
Gene name Transmembrane protein 40
Gene symbol TMEM40
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p25.2
miRNA miRNA information provided by mirtarbase database.
126
miRTarBase ID miRNA Experiments Reference
MIRT652403 hsa-miR-487b-3p HITS-CLIP 23824327
MIRT652402 hsa-miR-5693 HITS-CLIP 23824327
MIRT652401 hsa-miR-6499-3p HITS-CLIP 23824327
MIRT652400 hsa-miR-3135b HITS-CLIP 23824327
MIRT652399 hsa-miR-504-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26618866, 35156780
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWA1
Protein name Transmembrane protein 40
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15817 TMEM40 113 232 Transmembrane protein 40 family Family
Sequence
METSASSSQPQDNSQVHRETEDVDYGETDFHKQDGKAGLFSQEQYERNKSSSSSSSSSSS
SSSSSSSSSSESNDEDQQPRATGKHRRSLGAGYPHGNGSPGPGHGEPDVLKDELQLYGDA
PGEVVPSGESGLRRRGSDPASGEVEASQLRRLNIKKDDEFFHFVLLCFAIGALLVCYHYY
ADWFMSLGVGLLTFASLETVGIYFGLVYRIHSVLQGFIPLFQKFRLTGFRKT
D
Sequence length 233
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 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
Bladder Neoplasm Bladder Neoplasm BEFREE 29351801
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29351801
★☆☆☆☆
Found in Text Mining only
Frontotemporal Lobar Degeneration Frontotemporal dementia BEFREE 23419701
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of urinary bladder Urinary bladder cancer BEFREE 29351801
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29351801
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 30320346 Associate
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of tongue Tongue carcinoma BEFREE 30320346
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Diseases Urinary bladder diseases Pubtator 29351801 Inhibit
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 29351801 Stimulate
★☆☆☆☆
Found in Text Mining only