KCNK6

potassium two pore domain channel subfamily K member 6, the group of Potassium two pore domain channel subfamily K

Basic information

Region (hg38): 19:38319845-38332076

Links

ENSG00000099337 ∙ NCBI:9424 ∙ OMIM:603939 ∙ HGNC:6281 ∙ Uniprot:Q9Y257 ∙ 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 KCNK6 gene.

• not_specified (59 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004823.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			55	3		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNK6	protein_coding	protein_coding	ENST00000263372	3	9177

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00207	0.761	125611	0	105	125716	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0263	183	184	0.995	0.0000114	1917
Missense in Polyphen		65	61.719	1.0532		688
Synonymous	-0.0421	94	93.5	1.01	0.00000638	740
Loss of Function	0.931	5	7.81	0.640	3.36e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.00295	0.00294
Finnish	0.00	0.00
European (Non-Finnish)	0.000305	0.000299
Middle Eastern	0.00295	0.00294
South Asian	0.000366	0.000359
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exhibits outward rectification in a physiological K(+) gradient and mild inward rectification in symmetrical K(+) conditions.
• Pathway: Neuronal System;Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction;Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK);Tandem pore domain potassium channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.604
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.36

Haploinsufficiency Scores

• pHI: 0.234
• hipred: N
• hipred_score: 0.267
• ghis: 0.456

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.241

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnk6
• Phenotype: muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of systemic arterial blood pressure;potassium ion transport;stabilization of membrane potential;regulation of ion transmembrane transport;regulation of resting membrane potential;cardiac conduction;potassium ion transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;voltage-gated potassium channel complex
• Molecular function: inward rectifier potassium channel activity;potassium channel activity;potassium ion leak channel activity