KCNK9
Potassium channel subfamily K member 9
Also known as: K2p9.1, KCNK9_HUMAN, TASK-3, TASK3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NPC2
- Gene
- KCNK9
- Ensembl
- ENSG00000169427
- Chromosome
- 8
- Canonical length
- 374 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Subcellular location
- Plasma membrane
- Quaternary structure
- Homodimer
OverviewNCBI 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 carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Canonical amino-acid sequenceUniProt
374 residues, UniProt reviewed canonical sequence.
>Q9NPC2|KCNK9
1 MKRQNVRTLS LIVCTFTYLL VGAAVFDALE SDHEMREEEK LKAEEIRIKG KYNISSEDYR
61 QLELVILQSE PHRAGVQWKF AGSFYFAITV ITTIGYGHAA PGTDAGKAFC MFYAVLGIPL
121 TLVMFQSLGE RMNTFVRYLL KRIKKCCGMR NTDVSMENMV TVGFFSCMGT LCIGAAAFSQ
181 CEEWSFFHAY YYCFITLTTI GFGDYVALQT KGALQKKPLY VAFSFMYILV GLTVIGAFLN
241 LVVLRFLTMN SEDERRDAEE RASLAGNRNS MVIHIPEEPR PSRPRYKADV PDLQSVCSCT
301 CYRSQDYGGR SVAPQNSFSA KLAPHYFHSI SYKIEEISPS TLKNSLFPSP ISSISPGLHS
361 FTDHQRLMKR RKSVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNK9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 7.4 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 7.4 nTPM
- adrenal gland: 1.5 nTPM
- cerebral cortex: 1 nTPM
- pituitary gland: 0.7 nTPM
- blood vessel: 0.5 nTPM
- colon: 0.5 nTPM
Single-cell type
- oocytes: 74 nCPM
- adrenal medulla cells: 53 nCPM
- brain excitatory neurons: 46 nCPM
- thyrotrophs: 31 nCPM
- retinal amacrine cells: 27 nCPM
- other brain neurons: 15 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 20 nTPM
- cerebral cortex: 6.6 nTPM
- pons: 5.1 nTPM
- midbrain: 4 nTPM
- white matter: 3.9 nTPM
- medulla oblongata: 3.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNK9.
Disease | AllUniProt
Conditions KCNK9 is implicated in, by any mechanism.
- Birk-Barel syndrome (BIBARS) MIM:612292
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 86 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Birk-Barel syndrome
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.31
- gnomAD pLI
- 0.96
- gnomAD missense Z
- 2.9
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to acidic pH
- potassium ion import across plasma membrane
- potassium ion transport
- regulation of action potential firing rate
- regulation of resting membrane potential
- visual perception
- negative regulation of aldosterone secretion
Molecular functions
- identical protein binding
- metal ion binding
- outward rectifier potassium channel activity
- potassium channel activity
- potassium ion leak channel activity
- protein heterodimerization activity
- sodium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Two pore domain potassium channel, TASK family
- Two pore domain potassium channel
- Potassium channel domain
- Ion channel
- Potassium channel subfamily K member 9
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KCNK9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNK9 as an antibody target. Whether an autoantibody or antibody against KCNK9 could matter depends on whether native KCNK9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNK9 is annotated at the cell surface, where native KCNK9 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KCNK9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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