Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92736
Gene name Gene Name - the full gene name approved by the HGNC.
Otopetrin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OTOP2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
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 32296183
GO:0005886 Component Plasma membrane IEA
GO:0015252 Function Proton channel activity ISS
GO:0016021 Component Integral component of membrane IEA
GO:1902600 Process Proton transmembrane transport ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607827 19657 ENSG00000183034
Protein
UniProt ID Q7RTS6
Protein name Proton channel OTOP2 (Otopetrin-2)
Protein function Proton-selective ion channel open at neutral pH. Actives at neutral and alkaline extracellular pH, likely participates in some alkali-related physiological activities.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03189 Otopetrin 102 222 Otopetrin Family
PF03189 Otopetrin 200 280 Otopetrin Family
PF03189 Otopetrin 290 449 Otopetrin Family
PF03189 Otopetrin 475 549 Otopetrin Family
Sequence
Sequence length 562
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Usher syndrome Usher Syndrome, Type I, USHER SYNDROME, TYPE IG rs80338903, rs397518008, rs111033367, rs121912598, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs137852839, rs137852840, rs2133130286, rs104894651
View all (734 more)
21569298
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 30652071
Colorectal Neoplasms Associate 30652071, 37543577
Neoplasms Inhibit 30652071