KCNK15

potassium two pore domain channel subfamily K member 15, the group of Potassium two pore domain channel subfamily K

Basic information

Region (hg38): 20:44745865-44752313

Previous symbols: [ "KCNK11", "KCNK14" ]

Links

ENSG00000124249 ∙ NCBI:60598 ∙ OMIM:607368 ∙ HGNC:13814 ∙ Uniprot:Q9H427 ∙ 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 KCNK15 gene.

• not_specified (52 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022358.4. 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						0
missense			48	4		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNK15	protein_coding	protein_coding	ENST00000372861	2	5255

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0334	0.833	125161	5	252	125418	0.00103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.779	167	198	0.844	0.0000137	2008
Missense in Polyphen		52	75.067	0.69271		824
Synonymous	2.76	69	105	0.658	0.00000797	750
Loss of Function	1.18	3	6.18	0.486	2.65e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000242	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000719	0.000708
Finnish	0.00	0.00
European (Non-Finnish)	0.0000461	0.0000441
Middle Eastern	0.000719	0.000708
South Asian	0.00799	0.00761
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel.
• Pathway: Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction (Consensus)

Intolerance Scores

• loftool: 0.512
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.78

Haploinsufficiency Scores

• pHI: 0.0895
• hipred: N
• hipred_score: 0.369
• ghis: 0.389

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0807

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnk15

Gene ontology

• Biological process: stabilization of membrane potential;regulation of ion transmembrane transport;cardiac conduction;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