KCNK17 (potassium two pore domain channel subfamily K member 17)

Gene

• Entrez ID: 89822
• Gene name: Potassium two pore domain channel subfamily K member 17
• Gene symbol: KCNK17
• Synonyms (NCBI Gene): K2p17.1, TALK-2, TALK2, TASK-4, TASK4
• Chromosome: 6
• Chromosome location: 6p21.2
• Summary: The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141016843	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005267	Function	Potassium channel activity	IDA	11248242
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	36063992
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	11248242
GO:0006813	Process	Potassium ion transport	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0015271	Function	Outward rectifier potassium channel activity	IDA	26919430, 36063992
GO:0016020	Component	Membrane	IEA
GO:0022841	Function	Potassium ion leak channel activity	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	36063992
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 607370
• HGNC: 14465
• e!Ensembl: ENSG00000124780

Protein

• UniProt ID: Q96T54
• Protein name: Potassium channel subfamily K member 17 (2P domain potassium channel Talk-2) (Acid-sensitive potassium channel protein TASK-4) (TWIK-related acid-sensitive K(+) channel 4) (TWIK-related alkaline pH-activated K(+) channel 2) (TALK-2)
• Protein function: K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07885	Ion_trans_2	80 → 157	Ion channel	Family
  PF07885	Ion_trans_2	185 → 269	Ion channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in aorta and coronary artery. Expressed in pancreas, in both endocrine (alpha, beta, gamma, delta, and epsilon) and exocrine (acinar and ductal) cells. {ECO:0000269|PubMed:11263999, ECO:0000269|PubMed
• Sequence:

  MYRPRARAAPEGRVRGCAVPSTVLLLLAYLAYLALGTGVFWTLEGRAAQDSSRSFQRDKW
  ELLQNFTCLDRPALDSLIRDVVQAYKNGASLLSNTTSMGRWELVGSFFFSVSTITTIGYG
  NLSPNTMAARLFCIFFALVGIPLNLVVLNRLGHLMQQGVNHWASRLGGTWQDPDKARWLA
  GSGALLSGLLLFLLLPPLLFSHMEGWSYTEGFYFAFITLSTVGFGDYVIGMNPSQRYPLW
  YKNMVSLWILFGMAWLALIIKLILSQLETPGRVCSCCHHSSKEDFKSQSWRQGPDREPES
  HSPQQGCYPEGPMGIIQHLEPSAHAAGCGKDS

• Sequence length: 332

Pathways

Reactome:

TWIK-related alkaline pH activated K+ channel (TALK)
Phase 4 - resting membrane potential

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
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alkalosis	Associate	36063992	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	31581133	★☆☆☆☆ Found in Text Mining only
Heart Neoplasms	Associate	35698272	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Associate	34349187	★☆☆☆☆ Found in Text Mining only