KCNK3 (potassium two pore domain channel subfamily K member 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3777
Gene name Potassium two pore domain channel subfamily K member 3
Gene symbol KCNK3
Synonyms (NCBI Gene)
K2p3.1OAT1PPH4TASKTASK-1TASK1TBAK1
Chromosome 2
Chromosome location 2p23.3
Summary This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs398123039 G>A Pathogenic Coding sequence variant, missense variant
rs398123040 G>A Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs398123041 G>C Pathogenic Coding sequence variant, missense variant
rs398123042 G>A,C Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs398123043 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
248
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (248)
miRTarBase ID miRNA Experiments Reference
MIRT623516 hsa-miR-3691-3p HITS-CLIP 23824327
MIRT623515 hsa-miR-6814-5p HITS-CLIP 23824327
MIRT623514 hsa-miR-150-5p HITS-CLIP 23824327
MIRT623513 hsa-miR-6778-3p HITS-CLIP 23824327
MIRT623516 hsa-miR-3691-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (44)
GO ID Ontology Definition Evidence Reference
GO:0003029 Process Detection of hypoxic conditions in blood by carotid body chemoreceptor signaling IEA
GO:0003029 Process Detection of hypoxic conditions in blood by carotid body chemoreceptor signaling ISS
GO:0005216 Function Monoatomic ion channel activity IMP 12198146
GO:0005252 Function Open rectifier potassium channel activity IEA
GO:0005267 Function Potassium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603220 6278 ENSG00000171303
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14649
Protein name Potassium channel subfamily K member 3 (Acid-sensitive potassium channel protein TASK-1) (TWIK-related acid-sensitive K(+) channel 1) (Two pore potassium channel KT3.1) (Two pore K(+) channel KT3.1)
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
PDB 6RV2 , 6RV3 , 6RV4 , 9G9X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07885 Ion_trans_2 59 → 134 Ion channel Family
PF07885 Ion_trans_2 165 → 248 Ion channel Family
Tissue specificity TISSUE SPECIFICITY: Widespread expression in adult. Strongest expression in pancreas and placenta. Lower expression in brain, lung, prostate, heart, kidney, uterus, small intestine and colon.
Sequence 
MKRQNVRTLALIVCTFTYLLVGAAVFDALESEPELIERQRLELRQQELRARYNLSQGGYE
ELERVVLRLKPHKAGVQWRFAGSFYFAITVITTIGYGHAAPSTDGGKVFCMFYALLGIPL
TLVMFQSLGERINTLVRYLLHRAKKGLGMRRADVSMANMVLIGFFSCISTLCIGAAAFSH
YEHWTFFQAYYYCFITLTTIGFGDYVALQKDQALQTQPQYVAFSFVYILTGLTVIGAFLN
LVVLRFMTMNAEDEKRDAEHRALLTRNGQAGGGGGGGSAHTTDTASSTAAAGGGGFRNVY
AEVLHFQSMCSCLWYKSREKLQYSIPMIIPRDLSTSDTCVEQSHSSPGGGGRYSDTPSRR
CLCSGAPRSAISSVSTGLHSLSTFRGLMKRRSSV
Sequence length 394
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome 		  TWIK-releated acid-sensitive K+ channel (TASK)
Phase 4 - resting membrane potential
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
174
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pulmonary arterial hypertension Likely pathogenic rs398123042 RCV001004022
Pulmonary hypertension, primary, 1 Pathogenic rs398123039 RCV000248489
Pulmonary hypertension, primary, 4 Pathogenic; Likely pathogenic rs2465324094, rs1085307438, rs1553387422, rs398123039, rs398123041, rs398123042, rs398123043 RCV003159084
RCV000488684
RCV000660625
RCV000054385
RCV000054387
RCV000054388
RCV000054389
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2465323845, rs2465324154 RCV003127288
RCV003127289
KCNK3-related disorder Likely benign; Conflicting classifications of pathogenicity rs767471086, rs756684255, rs151228365, rs398123040 RCV003933804
RCV003923938
RCV004730980
RCV003982872
Show/Hide Text Mining Associations (31)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 39637865
Breast Neoplasms Associate 28252570
Carcinoma Basal Cell Associate 35011589
Carcinoma Squamous Cell Associate 35676660
Cardiovascular Diseases Associate 20665672
Channelopathies Associate 28388887, 30354297, 33036472
Chemical and Drug Induced Liver Injury Associate 19034961
Cholestasis Extrahepatic Associate 19034961
Developmental Disabilities Associate 36195757
Drug Related Side Effects and Adverse Reactions Associate 19034961