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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3777
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium two pore domain channel subfamily K member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNK3
Synonyms (NCBI Gene) Gene synonyms aliases
K2p3.1, OAT1, PPH4, TASK, TASK-1, TASK1, TBAK1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603220 6278 ENSG00000171303
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pulmonary arterial hypertension pulmonary arterial hypertension rs398123042 N/A
Pulmonary Hypertension pulmonary hypertension, primary, 4, pulmonary hypertension, primary, 1 rs398123039, rs398123041, rs398123042, rs398123043, rs1085307438, rs1553387422 N/A
Show/Hide Unknown Diseases (6)
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
Heart Failure Heart failure N/A N/A GWAS
Heritable Pulmonary Arterial Hypertension heritable pulmonary arterial hypertension N/A N/A GenCC
Hypertension Hypertension, Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), High blood pressure / hypertension, ICD10 I10: Essential (primary) hypertension N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Show/Hide Text Mining Associations (31)
Associations from Text Mining Disease 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