KCNJ10

Protein identityUniProt · HPA

UniProt accession

P78508

Gene

KCNJ10

Ensembl

ENSG00000177807

Chromosome

1

Canonical length

379 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels

Quaternary structure

Homotetramer

OverviewNCBI Gene

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

379 residues, UniProt reviewed canonical sequence.

>P78508|KCNJ10
     1  MTSVAKVYYS QTTQTESRPL MGPGIRRRRV LTKDGRSNVR MEHIADKRFL YLKDLWTTFI
    61  DMQWRYKLLL FSATFAGTWF LFGVVWYLVA VAHGDLLELD PPANHTPCVV QVHTLTGAFL
   121  FSLESQTTIG YGFRYISEEC PLAIVLLIAQ LVLTTILEIF ITGTFLAKIA RPKKRAETIR
   181  FSQHAVVASH NGKPCLMIRV ANMRKSLLIG CQVTGKLLQT HQTKEGENIR LNQVNVTFQV
   241  DTASDSPFLI LPLTFYHVVD ETSPLKDLPL RSGEGDFELV LILSGTVEST SATCQVRTSY
   301  LPEEILWGYE FTPAISLSAS GKYIADFSLF DQVVKVASPS GLRDSTVRYG DPEKLKLEES
   361  LREQAEKEGS ALSVRISNV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNJ10 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)

0.37

Highest tissue expression

114 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNJ10.

Disease | AllUniProt

Conditions KCNJ10 is implicated in, by any mechanism.

• Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) MIM:612780

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 453 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• EAST syndrome
• Autosomal recessive nonsyndromic hearing loss 4
• Pendred syndrome
• SeSAME-like syndrome
• Microcephaly

Disease | AutoantibodyPubMed

Conditions in which antibodies against KCNJ10 are reported. Each links to that disease's full target list.

• Multiple Sclerosis 8

ReferencesPubMed · IEDB

Publications for KCNJ10 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.76

gnomAD pLI

0.15

gnomAD missense Z

1.48

DepMap mean gene effect

-0.07

DepMap dependency class

selective

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

• adult walking behavior
• cellular response to potassium ion
• central nervous system myelination
• glutamate reuptake
• non-motile cilium assembly
• potassium ion homeostasis
• potassium ion import across plasma membrane
• potassium ion transmembrane transport
• potassium ion transport
• regulation of long-term neuronal synaptic plasticity
• regulation of monoatomic ion transmembrane transport
• regulation of resting membrane potential
• visual perception

Molecular functions

• ATP binding
• ATP-activated inward rectifier potassium channel activity
• inward rectifier potassium channel activity

Cellular components

• astrocyte projection
• basolateral plasma membrane
• cell body
• ciliary base
• monoatomic ion channel complex
• plasma membrane
• presynapse

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, Kir1.2

KeywordsUniProt

• ATP-binding
• Cell membrane
• Deafness
• Disulfide bond
• Epilepsy
• Intellectual disability
• Ion channel
• Ion transport
• Membrane
• Nucleotide-binding
• Potassium
• Potassium transport
• Transmembrane
• Transmembrane helix
• Transport
• Voltage-gated channel

InteractionsUniProt · HPA

Protein binding partners of KCNJ10 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MAGI1
• PATJ
• IL16