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): 14:88180102-88326907

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.

• Inborn genetic diseases (24 variants)
• not provided (2 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	2	0

Variants in KCNK10

This is a list of pathogenic ClinVar variants found in the KCNK10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-88185576-G-A		not specified	Uncertain significance (Feb 27, 2023)
14-88185637-C-T			Likely benign (Apr 10, 2018)
14-88185669-T-C		not specified	Uncertain significance (Nov 05, 2021)
14-88185695-T-G		not specified	Uncertain significance (Nov 07, 2022)
14-88185705-C-T		not specified	Uncertain significance (Oct 03, 2022)
14-88185722-C-T		not specified	Uncertain significance (Jan 31, 2022)
14-88185723-G-A		not specified	Uncertain significance (Oct 10, 2023)
14-88185728-G-A		not specified	Uncertain significance (May 01, 2022)
14-88185817-G-A			Likely benign (Apr 10, 2018)
14-88185852-G-A		not specified	Uncertain significance (Oct 26, 2022)
14-88185933-G-A		not specified	Uncertain significance (Oct 16, 2023)
14-88185936-C-T		not specified	Uncertain significance (Sep 07, 2022)
14-88186020-G-A		not specified	Uncertain significance (Mar 06, 2023)
14-88186034-C-T		not specified	Uncertain significance (Apr 04, 2023)
14-88186035-G-A		not specified	Uncertain significance (Dec 14, 2021)
14-88186050-G-A		not specified	Uncertain significance (Nov 18, 2023)
14-88186060-A-T		not specified	Uncertain significance (Oct 06, 2023)
14-88186118-G-A		not specified	Uncertain significance (Jun 24, 2022)
14-88188081-C-G		not specified	Uncertain significance (Jul 13, 2021)
14-88188101-C-A		not specified	Uncertain significance (Sep 14, 2022)
14-88227405-T-A		not specified	Uncertain significance (Feb 22, 2023)
14-88227500-T-C		not specified	Uncertain significance (Sep 13, 2023)
14-88263227-G-A		not specified	Uncertain significance (Apr 20, 2023)
14-88263249-G-A		not specified	Uncertain significance (Feb 28, 2023)
14-88263260-G-A		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNK10	protein_coding	protein_coding	ENST00000319231	7	144139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00314	0.995	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	273	342	0.799	0.0000220	3543
Missense in Polyphen		68	121.18	0.56115		1304
Synonymous	-0.970	157	142	1.10	0.00000995	1099
Loss of Function	2.69	8	21.4	0.373	0.00000115	244

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000437	0.000437
Ashkenazi Jewish	0.00189	0.00189
East Asian	0.00	0.00
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Kcnk10

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