KCNJ8
ATP-sensitive inward rectifier potassium channel 8
Also known as: KCNJ8_HUMAN, Kir6.1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15842
- Gene
- KCNJ8
- Ensembl
- ENSG00000121361
- Chromosome
- 12
- Canonical length
- 424 aa
- Protein class
- Disease related genes, FDA approved drug targets, Metabolic proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
OverviewNCBI Gene
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
Canonical amino-acid sequenceUniProt
424 residues, UniProt reviewed canonical sequence.
>Q15842|KCNJ8
1 MLARKSIIPE EYVLARIAAE NLRKPRIRDR LPKARFIAKS GACNLAHKNI REQGRFLQDI
61 FTTLVDLKWR HTLVIFTMSF LCSWLLFAIM WWLVAFAHGD IYAYMEKSGM EKSGLESTVC
121 VTNVRSFTSA FLFSIEVQVT IGFGGRMMTE ECPLAITVLI LQNIVGLIIN AVMLGCIFMK
181 TAQAHRRAET LIFSRHAVIA VRNGKLCFMF RVGDLRKSMI ISASVRIQVV KKTTTPEGEV
241 VPIHQLDIPV DNPIESNNIF LVAPLIICHV IDKRSPLYDI SATDLANQDL EVIVILEGVV
301 ETTGITTQAR TSYIAEEIQW GHRFVSIVTE EEGVYSVDYS KFGNTVKVAA PRCSARELDE
361 KPSILIQTLQ KSELSHQNSL RKRNSMRRNN SMRRNNSIRR NNSSLMVPKV QFMTPEGNQN
421 TSESLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNJ8 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
- 2
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 64 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 64 nTPM
- pancreas: 37 nTPM
- liver: 35 nTPM
- adipose tissue: 27 nTPM
- blood vessel: 21 nTPM
- breast: 20 nTPM
Single-cell type
- pericytes: 122 nCPM
- breast lactating cells: 66 nCPM
- cardiomyocytes: 62 nCPM
- decidual stromal cells: 34 nCPM
- alveolar cells type 2: 30 nCPM
- pancreatic acinar cells: 28 nCPM
Immune cell
- eosinophil: 1.5 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 19 nTPM
- thalamus: 10 nTPM
- basal ganglia: 6.1 nTPM
- midbrain: 6 nTPM
- medulla oblongata: 5.9 nTPM
- spinal cord: 5.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNJ8.
Disease | AllUniProt
Conditions KCNJ8 is implicated in, by any mechanism.
- Sudden infant death syndrome (SIDS) MIM:272120
- Hypertrichotic osteochondrodysplasia (HTOCD) MIM:239850
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 288 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.57
- gnomAD pLI
- 0.38
- gnomAD missense Z
- 3.45
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adaptive immune response
- apoptotic process
- calcium ion transmembrane transport
- CAMKK-AMPK signaling cascade
- coronary vasculature development
- defense response to virus
- determination of adult lifespan
- establishment of cell polarity
- fat cell differentiation
- fatty acid transport
- fibroblast proliferation
- gene expression
- glutamate secretion, neurotransmission
- heart morphogenesis
- inorganic cation transmembrane transport
- kidney development
- membrane repolarization during ventricular cardiac muscle cell action potential
- microglial cell activation
- neuromuscular process
- NLRP3 inflammasome complex assembly
- p38MAPK cascade
- potassium ion import across plasma membrane
- potassium ion transmembrane transport
- potassium ion transport
- protein secretion
- reactive gliosis
- regulation of blood pressure
- regulation of heart rate
- regulation of monoatomic ion transmembrane transport
- response to ATP
- response to cytokine
- response to endoplasmic reticulum stress
- response to exogenous dsRNA
- response to hypoxia
- response to insulin
- response to ischemia
- response to lipopolysaccharide
- response to resveratrol
- response to xenobiotic stimulus
- synaptic assembly at neuromuscular junction
- transmission of nerve impulse
- transport across blood-brain barrier
- vasodilation
- ventricular cardiac muscle tissue development
- atrioventricular node cell differentiation
Molecular functions
- ATP binding
- ATP-activated inward rectifier potassium channel activity
- ATPase-coupled monoatomic cation transmembrane transporter activity
- inward rectifier potassium channel activity
- sulfonylurea receptor binding
- voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential
- voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Potassium channel, inwardly rectifying, Kir, cytoplasmic
- Immunoglobulin E-set
- Potassium channel, inwardly rectifying, Kir
- Potassium channel, inwardly rectifying, transmembrane domain
- Inward rectifier potassium channel, C-terminal
- Inward rectifier potassium channel transmembrane domain
- Inward rectifier potassium channel C-terminal domain
- Potassium channel, inwardly rectifying, Kir6.1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KCNJ8 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 KCNJ8 as an antibody target. Whether an autoantibody or antibody against KCNJ8 could matter depends on whether native KCNJ8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNJ8 is annotated at the cell surface, where native KCNJ8 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 KCNJ8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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