KCNK17

potassium two pore domain channel subfamily K member 17, the group of Potassium two pore domain channel subfamily K

Basic information

Region (hg38): 6:39299001-39314461

Links

ENSG00000124780 ∙ NCBI:89822 ∙ OMIM:607370 ∙ HGNC:14465 ∙ Uniprot:Q96T54 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• heart conduction disease (Limited), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCNK17 gene.

• not_specified (52 variants)
• not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK17 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031460.4. 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	1		3
missense		1	51	4	1	57
nonsense			1			1
start loss						0
frameshift				1		1
splice donor/acceptor (+/-2bp)						0
Total	0	1	54	6	1

Highest pathogenic variant AF is 0.000029427638

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNK17	protein_coding	protein_coding	ENST00000373231	5	15553

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000418	0.397	125643	0	105	125748	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.200	180	188	0.959	0.0000103	2118
Missense in Polyphen		58	62.086	0.93418		707
Synonymous	1.02	72	83.8	0.859	0.00000489	686
Loss of Function	0.453	9	10.6	0.850	5.41e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00340	0.00340
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000218	0.000217
South Asian	0.000494	0.000490
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents.
• Pathway: Neuronal System;Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction;TWIK-related alkaline pH activated K+ channel (TALK);Tandem pore domain potassium channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.911
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.180
• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0925

Gene Damage Prediction

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

Gene ontology

• Biological process: potassium ion transport;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