OTOP2 (otopetrin 2)

Gene

• Entrez ID: 92736
• Gene name: Otopetrin 2
• Gene symbol: OTOP2
• Synonyms (NCBI Gene): -
• Chromosome: 17
• Chromosome location: 17q25.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015252	Function	Proton channel activity	IBA
GO:0015252	Function	Proton channel activity	IEA
GO:0015252	Function	Proton channel activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	ISS

Other IDs

• MIM: 607827
• HGNC: 19657
• e!Ensembl: 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:

  MSEELAQGPKESPPAPRAGPREVWKKGGRLLSVLLAVNVLLLACTLISGGAFNKVAVYDT
  DVFALLTAMMLLATLWILFYLLRTVRCPCAVPYRDAHAGPIWLRGGLVLFGICTLIMDVF
  KTGYYSSFFECQSAIKILHPLIQAVFVIIQTYFLWVSAKDCVHVHLDLTWCGLMFTLTTN
  LAIWMAAVVDESVHQSHSYSSSHSNASHARLISDQHADNPVGGDSCLCSTAVCQIFQQGY
  FYLYPFNIEYSLFASTMLYVMWKNVGRFLASTPGHSHTPTPVSLFRETFFAGPVLGLLLF
  VVGLAVFIIYEVQVSGDGSRTRQALVIYYSFNIVCLGLTTLVSLSGSIIYRFDRRAMDHH
  KNPTRTLDVALLMGAALGQYAISYYSIVAVVAGTPQDLLAGLNLTHALLMIAQHTFQNMF
  IIESLHRGPPGAEPHSTHPKEPCQDLTFTNLDALHTLSACPPNPGLVSPSPSDQREAVAI
  VSTPRSQWRRQCLKDISLFLLLCNVILWIMPAFGARPHFSNTVEVDFYGYSLWAVIVNIC
  LPFGIFYRMHAVSSLLEVYVLS

• Sequence length: 562

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
USHER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	30652071	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30652071		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30652071, 37543577	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30652071		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30652071		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG	21569298		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IG	Usher Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only