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KCNK9 (potassium two pore domain channel subfamily K member 9)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51305
Gene nameGene Name - the full gene name approved by the HGNC.
Potassium two pore domain channel subfamily K member 9
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KCNK9
SynonymsGene synonyms aliases
BIBARS, K2p9.1, KT3.2, TASK-3, TASK3, TASK32
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinoma
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs121908332 C>G,T Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs867543866 C>A,T Uncertain-significance, likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018691 hsa-miR-335-5p Microarray 18185580
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
GO ID Ontology Definition Evidence Reference
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005267 Function Potassium channel activity IDA 11042359
GO:0005886 Component Plasma membrane IDA 11042359
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDsOther 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
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NPC2
Protein name Potassium channel subfamily K member 9 (Acid-sensitive potassium channel protein TASK-3) (TWIK-related acid-sensitive K(+) channel 3) (Two pore potassium channel KT3.2) (Two pore K(+) channel KT3.2)
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
PDB 3P1N , 3P1O , 3P1P , 3P1Q , 3P1R , 3P1S , 3SMK , 3SML , 3SMM , 3SMN , 3SMO , 3SP5 , 3SPR , 3UX0 , 4FR3 , 6GHP , 8K1J , 8K1Q , 8K1V , 8K1Z , 9G9V , 9G9W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07885 Ion_trans_2
60 → 134
Ion channel
 Family
PF07885 Ion_trans_2
165 → 248
Ion channel
 Family
Sequence 
MKRQNVRTLSLIVCTFTYLLVGAAVFDALESDHEMREEEKLKAEEIRIKGKYNISSEDYR
QLELVILQSEPHRAGVQWKFAGSFYFAITVITTIGYGHAAPGTDAGKAFCMFYAVLGIPL
TLVMFQSLGERMNTFVRYLLKRIKKCCGMRNTDVSMENMVTVGFFSCMGTLCIGAAAFSQ
CEEWSFFHAYYYCFITLTTIGFGDYVALQTKGALQKKPLYVAFSFMYILVGLTVIGAFLN
LVVLRFLTMNSEDERRDAEERASLAGNRNSMVIHIPEEPRPSRPRYKADVPDLQSVCSCT
CYRSQDYGGRSVAPQNSFSAKLAPHYFHSISYKIEEISPSTLKNSLFPSPISSISPGLHS
FTDHQRLMKRRKSV
Sequence length 374
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Aldosterone synthesis and secretion   TWIK-releated acid-sensitive K+ channel (TASK)
Phase 4 - resting membrane potential
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Absence seizure Absence Seizure Disorder rs137852779, rs137852780 15781965
Birk-barel syndrome Birk-Barel Mental Retardation Dysmorphism Syndrome rs121908332, rs867543866, rs1564493599 18678320
Congenital finger flexion contractures Congenital finger flexion contractures rs775011495, rs1570018597, rs1581595267, rs1589602023, rs1391978939, rs1592778920
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
Akinetic petit mal Akinetic Petit Mal 15781965
Dolichocephaly Long narrow head
Dysphagia Deglutition Disorders
High palate Byzanthine arch palate

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