Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
200728
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM17
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p15
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614950 26623 ENSG00000186889
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Orofaciodigital Syndrome orofaciodigital syndrome i N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 32055034
Genetic Diseases Inborn Associate 33494994
Glioblastoma Associate 39206901
Neoplasms Associate 39206901
Prostatic Neoplasms Associate 31562322