TMEM266 (transmembrane protein 266)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123591
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 266
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM266
Synonyms (NCBI Gene) Gene synonyms aliases
C15orf27, HVRP1, HsHVRP1, hTMEM266
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 25165868, 30810529
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618691 26763 ENSG00000169758
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q2M3C6
Protein name Transmembrane protein 266 (hTMEM266) (HV1-related protein 1) (HsHVRP1)
Protein function Voltage-sensor protein present on the post-synaptic side of glutamatergic mossy fibers and granule cells in the cerebellum (PubMed:25165868, PubMed:30810529). Despite the presence of a voltage-sensor segment, does not form a functional ion chann
Family and domains
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in the cerebellum (PubMed:25165868). Also expressed in cerebral cortex, skeletal muscle and thyroid, but at much lower levels (PubMed:25165868). {ECO:0000269|PubMed:25165868}.
Sequence 
MAVAPSFNMTNPQPAIEGGISEVEIISQQVDEETKSIAPVQLVNFAYRDLPLAAVDLSTA
GSQLLSNLDEDYQREGSNWLKPCCGKRAAVWQVFLLSASLNSFLVACVILVVILLTLELL
IDIKLLQFSSAFQFAGVIHWISLVILSVFFSETVLRIVVLGIWDYIENKIEVFDGAVIIL
SLAPMVASTVANGPRSPWDAISLIIMLRIWRVKRVIDAYVLPVKLEMEMVIQQYEKAKVI
QDEQLERLTQICQEQGFEIRQLRAHLAQQDLDLAAEREAALQAPHVLSQPRSRFKVLEAG
TWDEETAAESVVEELQPSQEATMKDDMNSYISQYYNGPSSDSGVPEPAVCMVTTAAIDIH
QPNISSDLFSLDMPLKLGGNGTSATSESASRSSVTRAQSDSSQTLGSSMDCSTAREEPSS
EPGPSPPPLPSQQQVEEATVQDLLSSLSEDPCPSQKALDPAPLARPSPAGSAQTSPELEH
RVSLFNQKNQEGFTVFQIRPVIHFQPTVPMLEDKFRSLESKEQKLHRVPEA
Sequence length 531
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Hyperopia Hyperopia N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 34666190