Seroatlas · Human Serome Atlas

KCNJ6

G protein-activated inward rectifier potassium channel 2

Also known as: BIR1, GIRK2, hiGIRK2, KATP2, KCNJ6_HUMAN, KCNJ7, Kir3.2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P48051
Gene
KCNJ6
Ensembl
ENSG00000157542
Chromosome
21
Canonical length
423 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels

OverviewNCBI Gene

This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]

Canonical amino-acid sequenceUniProt

423 residues, UniProt reviewed canonical sequence.

>P48051|KCNJ6
     1  MAKLTESMTN VLEGDSMDQD VESPVAIHQP KLPKQARDDL PRHISRDRTK RKIQRYVRKD
    61  GKCNVHHGNV RETYRYLTDI FTTLVDLKWR FNLLIFVMVY TVTWLFFGMI WWLIAYIRGD
   121  MDHIEDPSWT PCVTNLNGFV SAFLFSIETE TTIGYGYRVI TDKCPEGIIL LLIQSVLGSI
   181  VNAFMVGCMF VKISQPKKRA ETLVFSTHAV ISMRDGKLCL MFRVGDLRNS HIVEASIRAK
   241  LIKSKQTSEG EFIPLNQTDI NVGYYTGDDR LFLVSPLIIS HEINQQSPFW EISKAQLPKE
   301  ELEIVVILEG MVEATGMTCQ ARSSYITSEI LWGYRFTPVL TLEDGFYEVD YNSFHETYET
   361  STPSLSAKEL AELASRAELP LSWSVSSKLN QHAELETEEE EKNLEEQTER NGDVANLENE
   421  SKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNJ6 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)
0.39
Highest tissue expression
5 nTPM

Expression across tissuesHPA

Tissue

  • midbrain: 5 nTPM
  • hippocampal formation: 3.9 nTPM
  • cerebellum: 3.8 nTPM
  • cerebral cortex: 2.9 nTPM
  • pituitary gland: 1.7 nTPM
  • amygdala: 1.5 nTPM

Single-cell type

  • retinal horizontal cells: 435 nCPM
  • corticotrophs: 396 nCPM
  • pancreatic islet cells: 359 nCPM
  • somatotrophs: 275 nCPM
  • brain excitatory neurons: 251 nCPM
  • lactotrophs: 228 nCPM

Immune cell

  • basophil: 2 nTPM
  • eosinophil: 1.3 nTPM
  • neutrophil: 0.7 nTPM
  • classical monocyte: 0.1 nTPM
  • NK-cell: 0.1 nTPM
  • non-classical monocyte: 0.1 nTPM

Brain region

  • midbrain: 65 nTPM
  • hippocampal formation: 36 nTPM
  • cerebral cortex: 36 nTPM
  • basal ganglia: 19 nTPM
  • pons: 18 nTPM
  • white matter: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNJ6.

Disease | AllUniProt

Conditions KCNJ6 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 137 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Keppen-Lubinsky syndrome
  • See cases

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)
0.51
gnomAD pLI
0.54
gnomAD missense Z
3.71
DepMap mean gene effect
0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCNJ6 as an antibody target. Whether an autoantibody or antibody against KCNJ6 could matter depends on whether native KCNJ6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNJ6 is annotated at the cell surface, where native KCNJ6 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 KCNJ6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCNJ6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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