KCNK7

potassium two pore domain channel subfamily K member 7, the group of Potassium two pore domain channel subfamily K

Basic information

Region (hg38): 11:65592836-65595996

Links

ENSG00000173338 ∙ NCBI:10089 ∙ OMIM:603940 ∙ HGNC:6282 ∙ Uniprot:Q9Y2U2 ∙ 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 KCNK7 gene.

• not_specified (44 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033347.2. 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					1	1
missense			39	5	1	45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNK7	protein_coding	protein_coding	ENST00000340313	3	3142

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000348	0.377	125363	0	98	125461	0.000391

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0630	168	170	0.986	0.00000959	1859
Missense in Polyphen		53	50.542	1.0486		661
Synonymous	-0.709	90	81.8	1.10	0.00000489	726
Loss of Function	0.193	7	7.57	0.924	3.92e-7	80

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00186	0.00165
Ashkenazi Jewish	0.00487	0.00479
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000139	0.000132
Middle Eastern	0.00	0.00
South Asian	0.0000331	0.0000327
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane.
• 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: 0.0921

Intolerance Scores

• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.16

Haploinsufficiency Scores

• pHI: 0.0467
• hipred: N
• hipred_score: 0.144
• ghis: 0.481

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00337

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnk7
• Phenotype: normal phenotype

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