KCNK16
protein-codingpotassium two pore domain channel subfamily K member 16, the group of Potassium two pore domain channel subfamily K
Gene summary
The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~8.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KCNK16 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001135106.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 36 | 2 | 38 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 37 | 2 | 0 | 39 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001128578.1 | 5 | MANE Select | |
| Ensembl | ENSP00000415375.2 | 5 | MANE Select | |
| RefSeq | NP_001128577.1 | 5 | Standard | |
| RefSeq | NP_001128579.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Neuronal System
- Phase 4 - resting membrane potential
- Cardiac conduction
- Muscle contraction
- TWIK-related alkaline pH activated K+ channel (TALK)
Biological Process
- potassium ion transport
- stabilization of membrane potential
- regulation of ion transmembrane transport
- potassium ion transmembrane transport
Molecular Function
- voltage-gated ion channel activity
- potassium channel activity
- protein binding
- potassium ion leak channel activity
Cellular Component
- plasma membrane
- integral component of plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000425054
- Coding exons
- 5
- Length
- 8271
- Individuals with no LoFs
- 125526
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 222
- Defined
- 125748
- p
- 0.000883
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.914 | 140 | 174 | 0.805 | 0.00000864 | 2077 |
| Missense (PolyPhen) | 45 | 60.556 | 0.74311 | 739 | ||
| Synonymous | 0.458 | 65 | 69.9 | 0.930 | 0.00000365 | 646 |
| Loss of Function | 0.680 | 7 | 9.23 | 0.759 | 3.94e-7 | 102 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00035 | 0.00035 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.00092 | 0.00092 | rare |
| European (Non-Finnish) | 0.0016 | 0.0016 | notable |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents.;
Recessive Scores
- pRec
- 0.0890
Intolerance Scores
- LoFtool
- 0.866
- RVIS EVS
- 1.11
- RVIS percentile EVS
- 92.04
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0953
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |