GeneBe

KCNK10

potassium two pore domain channel subfamily K member 10, the group of Protein phosphatase 1 regulatory subunits|Potassium two pore domain channel subfamily K

Basic information

Region (hg38): 14:88180103-88326907

Links

ENSG00000100433 ∙ NCBI:54207 ∙ OMIM:605873 ∙ HGNC:6273 ∙ Uniprot:P57789 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCNK10 gene.

  • not_specified (59 variants)
  • not_provided (2 variants)
  • EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138317.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
 3
missense
57
clinvar
2
clinvar
 59
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 57 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KCNK10protein_codingprotein_codingENST00000319231 7144139
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.003140.9951256990491257480.000195
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.322733420.7990.00002203543
Missense in Polyphen68121.180.561151304
Synonymous-0.9701571421.100.000009951099
Loss of Function2.69821.40.3730.00000115244

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004370.000437
Ashkenazi Jewish0.001890.00189
East Asian0.000.00
Finnish0.00004640.0000462
European (Non-Finnish)0.0001060.000105
Middle Eastern0.000.00
South Asian0.00006530.0000653
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids.;
Pathway
Gastric acid secretion - Homo sapiens (human);Ectoderm Differentiation;Neuronal System;Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction;TWIK related potassium channel (TREK);Tandem pore domain potassium channels;Potassium Channels (Consensus)

Recessive Scores

pRec
0.112

Intolerance Scores

loftool
0.0713
rvis_EVS
-0.38
rvis_percentile_EVS
28.11

Haploinsufficiency Scores

pHI
0.541
hipred
Y
hipred_score
0.646
ghis
0.537

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0583

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kcnk10
Phenotype

Gene ontology

Biological process
signal transduction;memory;stabilization of membrane potential;regulation of ion transmembrane transport;potassium ion transmembrane transport
Cellular component
plasma membrane;integral component of plasma membrane
Molecular function
voltage-gated ion channel activity;potassium channel activity;potassium ion leak channel activity