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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNJ6
potassium inwardly rectifying channel subfamily J member 6
Chromosome 21 Β· 21q22.13
NCBI Gene: 3763Ensembl: ENSG00000157542.12HGNC: HGNC:6267UniProt: P48051
72PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inward rectifier potassium channel activityprotein bindingplasma membraneGolgi apparatusKeppen-Lubinsky syndromemathematical abilityintelligencerisk-taking behaviour
✦AI Summary

KCNJ6 encodes the GIRK2 (Kir3.2) subunit of G-protein-activated inwardly rectifying potassium channels, which are crucial effectors in opioid and neurotransmitter signaling pathways 1. The channel allows potassium influx and is activated by Gi/o protein-coupled receptors, including opioid and dopamine receptors 1. GIRK channels function as downstream effectors that determine the degree of analgesia experienced upon opioid receptor activation by endogenous and exogenous opioids 2. The mechanism involves postsynaptic metabotropic receptor activation, including GABAB receptors, which modulate neuronal excitability through potassium channel opening 3. KCNJ6 genetic variants significantly impact pain sensitivity and opioid analgesic requirements, with specific polymorphisms like rs2835859 and A1032G associated with altered postoperative analgesic needs and pain responses 14. Disease relevance includes associations with chr21 postsurgical pain, dry eye disease pathogenesis, nicotine dependence susceptibility, and cognitive dysfunction in Down syndrome models 5613. Clinically, KCNJ6 variants may serve as predictive markers for personalized pain management and analgesic dosing requirements 42.

Sources cited
1
KCNJ6 encodes GIRK2 channels activated by opioid and dopamine receptors, involved in analgesia modulation
PMID: 25346042
2
GIRK channels determine degree of analgesia from opioid receptor activation
PMID: 23994450
3
Kir3.2 channels serve as effectors for postsynaptic metabotropic receptors including GABAB
PMID: 28342823
4
KCNJ6 polymorphisms associated with postoperative analgesic requirements and gene expression levels
PMID: 19756153
5
KCNJ6 genetic factors associated with chronic postsurgical pain mechanisms
PMID: 38731944
6
KCNJ6 expression increase implicated in dry eye disease pathogenesis
PMID: 37026252
7
Increased Kcnj6 dose necessary for cognitive dysfunction in Down syndrome mouse model
PMID: 28342823
Disease Associationsβ“˜21
Keppen-Lubinsky syndromeOpen Targets
0.74Strong
mathematical abilityOpen Targets
0.42Moderate
intelligenceOpen Targets
0.36Weak
risk-taking behaviourOpen Targets
0.30Weak
cervical carcinomaOpen Targets
0.30Weak
lymphatic system diseaseOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.29Weak
esophageal ulcerOpen Targets
0.28Weak
HypercholesterolemiaOpen Targets
0.28Weak
asthmaOpen Targets
0.28Weak
autism spectrum disorderOpen Targets
0.28Weak
corneal ulcerOpen Targets
0.27Weak
injuryOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.27Weak
spermatoceleOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.22Weak
retinal degenerationOpen Targets
0.22Weak
neuroinflammatory disorderOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
polyarteritis nodosaOpen Targets
0.18Weak
Keppen-Lubinsky syndromeUniProt
Pathogenic Variants3
NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser)Likely pathogenic
Keppen-Lubinsky syndrome|See cases
β˜…β˜†β˜†β˜†2022β†’ Residue 154
NM_002240.5(KCNJ6):c.512T>G (p.Leu171Arg)Likely pathogenic
Keppen-Lubinsky syndrome
β˜…β˜†β˜†β˜†β†’ Residue 171
NM_002240.5(KCNJ6):c.452CCA[1] (p.Thr152del)Pathogenic
Keppen-Lubinsky syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 152
View on ClinVar β†—
Related Genes
KCNJ4Shared pathway100%KCNJ18Shared pathway100%KCNJ14Shared pathway100%GNG2Protein interaction100%GNG7Protein interaction100%CDCA8Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
1%
Ovary
1%
Liver
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KCNJ6KCNJ4KCNJ18KCNJ14GNG2GNG7CDCA8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P48051
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.28 [0.17–0.48]
RankingsWhere KCNJ6 stands among ~20K protein-coding genes
  • #6,553of 20,598
    Most Researched72
  • #4,030of 5,498
    Most Pathogenic Variants3
  • #2,828of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedKCNJ6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanisms and Preventative Strategies for Persistent Pain following Knee and Hip Joint Replacement Surgery: A Narrative Review.
PMID: 38731944
Int J Mol Sci Β· 2024
1.00
2
Genetics and alcoholism.
PMID: 23712313
Nat Rev Gastroenterol Hepatol Β· 2013
0.90
3
Ion channels in dry eye disease.
PMID: 37026252
Indian J Ophthalmol Β· 2023
0.80
4
Association between KCNJ6 (GIRK2) gene polymorphism rs2835859 and post-operative analgesia, pain sensitivity, and nicotine dependence.
PMID: 25346042
J Pharmacol Sci Β· 2014
0.70
5
Associations between KCNJ6 (GIRK2) gene polymorphisms and pain-related phenotypes.
PMID: 23994450
Pain Β· 2013
0.60