KCNJ16
Inward rectifier potassium channel 16
Also known as: BIR9, KCJ16_HUMAN, Kir5.1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NPI9
- Gene
- KCNJ16
- Ensembl
- ENSG00000153822
- Chromosome
- 17
- Canonical length
- 418 aa
- Protein class
- Disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Subcellular location
- Vesicles
OverviewNCBI Gene
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Canonical amino-acid sequenceUniProt
418 residues, UniProt reviewed canonical sequence.
>Q9NPI9|KCNJ16
1 MSYYGSSYHI INADAKYPGY PPEHIIAEKR RARRRLLHKD GSCNVYFKHI FGEWGSYVVD
61 IFTTLVDTKW RHMFVIFSLS YILSWLIFGS VFWLIAFHHG DLLNDPDITP CVDNVHSFTG
121 AFLFSLETQT TIGYGYRCVT EECSVAVLMV ILQSILSCII NTFIIGAALA KMATARKRAQ
181 TIRFSYFALI GMRDGKLCLM WRIGDFRPNH VVEGTVRAQL LRYTEDSEGR MTMAFKDLKL
241 VNDQIILVTP VTIVHEIDHE SPLYALDRKA VAKDNFEILV TFIYTGDSTG TSHQSRSSYV
301 PREILWGHRF NDVLEVKRKY YKVNCLQFEG SVEVYAPFCS AKQLDWKDQQ LHIEKAPPVR
361 ESCTSDTKAR RRSFSAVAIV SSCENPEETT TSATHEYRET PYQKALLTLN RISVESQMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNJ16 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
- 252 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 252 nTPM
- kidney: 182 nTPM
- thyroid gland: 130 nTPM
- pancreas: 41 nTPM
- stomach: 22 nTPM
- seminal vesicle: 21 nTPM
Single-cell type
- distal convoluted tubule cells: 1,337 nCPM
- renal connecting tubule cells: 765 nCPM
- proximal tubule cells: 681 nCPM
- renal collecting duct principal cells: 554 nCPM
- loop of henle epithelial cells: 481 nCPM
- parietal cells: 221 nCPM
Immune cell
- neutrophil: 1.6 nTPM
- gdT-cell: 0.3 nTPM
- MAIT T-cell: 0.3 nTPM
- memory B-cell: 0.3 nTPM
- memory CD4 T-cell: 0.3 nTPM
- naive B-cell: 0.3 nTPM
Brain region
- medulla oblongata: 86 nTPM
- hypothalamus: 86 nTPM
- midbrain: 81 nTPM
- spinal cord: 66 nTPM
- pons: 56 nTPM
- cerebellum: 50 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNJ16.
Disease | AllUniProt
Conditions KCNJ16 is implicated in, by any mechanism.
- Hypokalemic tubulopathy and deafness (HKTD) MIM:619406
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 43 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypokalemic tubulopathy and deafness
- KCNJ16-related disorder
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)
- 1.67
- gnomAD pLI
- 0
- gnomAD missense Z
- 0
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
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
- potassium ion import across plasma membrane
- potassium ion transmembrane transport
- potassium ion transport
- regulation of monoatomic ion transmembrane transport
Molecular functions
Cellular components
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, Kir5
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNJ16 as an antibody target. Whether an autoantibody or antibody against KCNJ16 could matter depends on whether native KCNJ16 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNJ16 is annotated at the cell surface, where native KCNJ16 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 KCNJ16 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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