Gene Gene information from NCBI Gene database.
Entrez ID 200728
Gene name Transmembrane protein 17
Gene symbol TMEM17
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p15
miRNA miRNA information provided by mirtarbase database.
124
miRTarBase ID miRNA Experiments Reference
MIRT026578 hsa-miR-192-5p Microarray 19074876
MIRT1432766 hsa-miR-1193 CLIP-seq
MIRT1432767 hsa-miR-1224-3p CLIP-seq
MIRT1432768 hsa-miR-1228 CLIP-seq
MIRT1432769 hsa-miR-1307 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26638075, 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005929 Component Cilium IEA
GO:0007224 Process Smoothened signaling pathway IEA
GO:0007224 Process Smoothened signaling pathway ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614950 26623 ENSG00000186889
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86X19
Protein name Transmembrane protein 17
Protein function Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for cili
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09799 Transmemb_17 45 151 Predicted membrane protein Family
Sequence
MELPDPVRQRLGNFSRAVFSDSNRTGPESNEGPENEMVSSLALQMSLYFNTYYFPLWWVS
SIMMLHMKYSILPDYYKFIVITVIILITLIEAIRLYLGYVGNLQEKVPELAGFWLLSLLL
QLPLILFLLFNEGLTNLPLEKAIHIIFTLFL
AFQVVAAFLTLRKMVNQLAVRFHLQDFDR
LSANRGDMRRMRSCIEEI
Sequence length 198
Interactions View interactions
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)
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
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Ciliopathies Associate 32055034
★☆☆☆☆
Found in Text Mining only
Genetic Diseases Inborn Associate 33494994
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 39206901
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 39206901
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 31562322
★☆☆☆☆
Found in Text Mining only