Seroatlas · Human Serome Atlas

KCNJ12

ATP-sensitive inward rectifier potassium channel 12

Also known as: hIRK1, IRK2, KCJ12_HUMAN, KCNJN1, Kir2.2, Kir2.2v

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

Protein identityUniProt · HPA

UniProt accession: Q14500
Gene: KCNJ12
Ensembl: ENSG00000184185
Chromosome: 17
Canonical length: 433 aa
Protein class: FDA approved drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location: Nucleoplasm,Golgi apparatus,Cytosol
Quaternary structure: Homotetramer

OverviewNCBI Gene

This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

433 residues, UniProt reviewed canonical sequence.

>Q14500|KCNJ12
     1  MTAASRANPY SIVSSEEDGL HLVTMSGANG FGNGKVHTRR RCRNRFVKKN GQCNIEFANM
    61  DEKSQRYLAD MFTTCVDIRW RYMLLIFSLA FLASWLLFGI IFWVIAVAHG DLEPAEGRGR
   121  TPCVMQVHGF MAAFLFSIET QTTIGYGLRC VTEECPVAVF MVVAQSIVGC IIDSFMIGAI
   181  MAKMARPKKR AQTLLFSHNA VVALRDGKLC LMWRVGNLRK SHIVEAHVRA QLIKPRVTEE
   241  GEYIPLDQID IDVGFDKGLD RIFLVSPITI LHEIDEASPL FGISRQDLET DDFEIVVILE
   301  GMVEATAMTT QARSSYLANE ILWGHRFEPV LFEEKNQYKI DYSHFHKTYE VPSTPRCSAK
   361  DLVENKFLLP SANSFCYENE LAFLSRDEED EADGDQDGRS RDGLSPQARH DFDRLQAGGG
   421  VLEQRPYRRE SEI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNJ12 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): 0.41
Highest tissue expression: 65 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 65 nTPM
cerebellum: 42 nTPM
tongue: 24 nTPM
heart muscle: 6.2 nTPM
parathyroid gland: 5.2 nTPM
cerebral cortex: 4.2 nTPM

Single-cell type

retinal horizontal cells: 74 nCPM
adrenal medulla cells: 32 nCPM
endometrial secretory cells: 32 nCPM
conjunctival goblet cells: 29 nCPM
brain excitatory neurons: 19 nCPM
retinal amacrine cells: 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: 58 nTPM
thalamus: 27 nTPM
midbrain: 16 nTPM
medulla oblongata: 13 nTPM
cerebral cortex: 11 nTPM
pons: 11 nTPM

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): 1.05
gnomAD pLI: 0.05
gnomAD missense Z: 1.16

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCNJ12 as an antibody target. Whether an autoantibody or antibody against KCNJ12 could matter depends on whether native KCNJ12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNJ12 is annotated at the cell surface, where native KCNJ12 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 KCNJ12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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