KCNK9 (potassium two pore domain channel subfamily K member 9)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51305
Gene name Potassium two pore domain channel subfamily K member 9
Gene symbol KCNK9
Synonyms (NCBI Gene)
BIBARSK2p9.1KT3.2TASK-3TASK3TASK32
Chromosome 8
Chromosome location 8q24.3
Summary 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.
2
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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005267 Function Potassium channel activity IDA 11042359
GO:0005267 Function Potassium channel activity IEA
GO:0005272 Function Sodium channel activity IDA 22948150
GO:0005272 Function Sodium 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
605874 6283 ENSG00000169427
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.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Birk-Barel syndrome Pathogenic; Likely pathogenic rs121908332, rs867543866, rs1814677892 RCV000005007
RCV000679851
RCV000449636
RCV001262218
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder association ClinVar
GWAS catalog
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (65)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence Seizure Disorder Absence Seizure CTD_human_DG 15781965
★★★★★
★☆☆☆☆
Found in Text Mining only
Akinetic Petit Mal Akinetic Petit Mal CTD_human_DG 15781965
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 26729267
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 39637865 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 18055845 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Birk-Barel Mental Retardation Dysmorphism Syndrome Birk-Barel syndrome ORPHANET_DG 18678320
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Birk-Barel Mental Retardation Dysmorphism Syndrome Birk-Barel syndrome CLINVAR_DG 18678320
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Birk-Barel Mental Retardation Dysmorphism Syndrome Birk-Barel syndrome UNIPROT_DG 18678320
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Birk-Barel Mental Retardation Dysmorphism Syndrome Birk-Barel syndrome GENOMICS_ENGLAND_DG 18678320
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Birk-Barel Mental Retardation Dysmorphism Syndrome Birk-Barel syndrome BEFREE 24342771, 28882594, 30690205
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations