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 name Gene Name - the full gene name approved by the HGNC.
Potassium two pore domain channel subfamily K member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNK9
Synonyms (NCBI Gene) Gene synonyms aliases
BIBARS, K2p9.1, KT3.2, TASK-3, TASK3, TASK32
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BIBARS
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
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
Show/Hide all(11)
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 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
605874 6283 ENSG00000169427
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
Tissue specificity TISSUE SPECIFICITY: Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung. {ECO:0000269|PubMed:11042359, ECO:0000269|PubMed:11431495}.
Sequence 
MKRQNVRTLSLIVCTFTYLLVGAAVFDALESDHEMREEEKLKAEEIRIKGKYNISSEDYR
QLELVILQSEPHRAGVQWKFAGSFYFAITVITTIGYGHAAPGTDAGKAFCMFYAVLGIPL
TLVMFQSLGERMNTFVRYLLKRIKKCCGMRNTDVSMENMVTVGFFSCMGTLCIGAAAFSQ
CEEWSFFHAYYYCFITLTTIGFGDYVALQTKGALQKKPLYVAFSFMYILVGLTVIGAFLN
LVVLRFLTMNSEDERRDAEERASLAGNRNSMVIHIPEEPRPSRPRYKADVPDLQSVCSCT
CYRSQDYGGRSVAPQNSFSAKLAPHYFHSISYKIEEISPSTLKNSLFPSPISSISPGLHS
FTDHQRLMKRRKSV
Sequence length 374
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   TWIK-releated acid-sensitive K+ channel (TASK)
Phase 4 - resting membrane potential
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
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
View all (32 more)
Epilepsy Epilepsy, Absence, Atypical, Epilepsy, Minor rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)		 15781965
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Absence seizure Absence Seizure Disorder 15781965 ClinVar
Dementia Dementia GWAS
Uterine Fibroids Uterine Fibroids GWAS
Show/Hide Text Mining Associations (24)
Associations from Text Mining
Disease Name Relationship Type References
Adenomyosis Associate 35682653
Atrial Fibrillation Associate 39637865
Bipolar Disorder Associate 18055845
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 33316910, 39637865
Carcinoma Basal Cell Associate 35011589
Carcinoma Hepatocellular Associate 31581133
Carcinoma Non Small Cell Lung Associate 32723974
Colitis Ulcerative Associate 27037036
Coronary Artery Disease Associate 26305337
Dysmenorrhea Associate 35682653