Seroatlas · Human Serome Atlas

KCNJ13

Inward rectifier potassium channel 13

Also known as: KCJ13_HUMAN, Kir1.4, Kir7.1, LCA16

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

Protein identityUniProt · HPA

UniProt accession
O60928
Gene
KCNJ13
Ensembl
ENSG00000115474
Chromosome
2
Canonical length
360 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Nuclear membrane,Plasma membrane
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

360 residues, UniProt reviewed canonical sequence.

>O60928|KCNJ13
     1  MDSSNCKVIA PLLSQRYRRM VTKDGHSTLQ MDGAQRGLAY LRDAWGILMD MRWRWMMLVF
    61  SASFVVHWLV FAVLWYVLAE MNGDLELDHD APPENHTICV KYITSFTAAF SFSLETQLTI
   121  GYGTMFPSGD CPSAIALLAI QMLLGLMLEA FITGAFVAKI ARPKNRAFSI RFTDTAVVAH
   181  MDGKPNLIFQ VANTRPSPLT SVRVSAVLYQ ERENGKLYQT SVDFHLDGIS SDECPFFIFP
   241  LTYYHSITPS SPLATLLQHE NPSHFELVVF LSAMQEGTGE ICQRRTSYLP SEIMLHHCFA
   301  SLLTRGSKGE YQIKMENFDK TVPEFPTPLV SKSPNRTDLD IHINGQSIDN FQISETGLTE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNJ13 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)
0.36
Highest tissue expression
166 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 166 nTPM
  • small intestine: 86 nTPM
  • parathyroid gland: 15 nTPM
  • retina: 13 nTPM
  • duodenum: 7.4 nTPM
  • thyroid gland: 6.6 nTPM

Single-cell type

  • choroid plexus epithelial cells: 155 nCPM
  • enterocytes: 119 nCPM
  • epicardial cells: 80 nCPM
  • retinal pigment epithelial cells: 68 nCPM
  • cardiomyocytes: 63 nCPM
  • melanocytes: 39 nCPM

Immune cell

  • basophil: 1.9 nTPM
  • T-reg: 1 nTPM
  • naive CD4 T-cell: 0.7 nTPM
  • memory CD4 T-cell: 0.6 nTPM
  • MAIT T-cell: 0.4 nTPM
  • NK-cell: 0.4 nTPM

Brain region

  • choroid plexus: 342 nTPM
  • hippocampal formation: 22 nTPM
  • cerebellum: 21 nTPM
  • thalamus: 17 nTPM
  • white matter: 13 nTPM
  • medulla oblongata: 8.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNJ13.

Disease | AllUniProt

Conditions KCNJ13 is implicated in, by any mechanism.

  • Snowflake vitreoretinal degeneration (SVD) MIM:193230
  • Leber congenital amaurosis 16 (LCA16) MIM:614186

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 252 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)
0.86
gnomAD pLI
0.01
gnomAD missense Z
1.93
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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

InteractionsUniProt · HPA

Protein binding partners of KCNJ13 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 KCNJ13 as an antibody target. Whether an autoantibody or antibody against KCNJ13 could matter depends on whether native KCNJ13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNJ13 is annotated at the cell surface, where native KCNJ13 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 KCNJ13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCNJ13. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...