Gene Gene information from NCBI Gene database.
Entrez ID 221468
Gene name Transmembrane protein 217
Gene symbol TMEM217
Synonyms (NCBI Gene)
C6orf128dJ355M6.2
Chromosome 6
Chromosome location 6p21.2
miRNA miRNA information provided by mirtarbase database.
63
miRTarBase ID miRNA Experiments Reference
MIRT017435 hsa-miR-335-5p Microarray 18185580
MIRT1435496 hsa-miR-10a CLIP-seq
MIRT1435497 hsa-miR-10b CLIP-seq
MIRT1435498 hsa-miR-1275 CLIP-seq
MIRT1435499 hsa-miR-129-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
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.
Q8N7C4
Protein name Transmembrane protein 217
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15049 DUF4534 11 171 Protein of unknown function (DUF4534) Family
Sequence
Sequence length 229
Interactions View interactions
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)
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION 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
Diabetic Retinopathy Diabetic Retinopathy BEFREE 23037145
★☆☆☆☆
Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS Pigmentary Disorder, Reticulate, With Systemic Manifestations BEFREE 28431867
★☆☆☆☆
Found in Text Mining only