KCNK7

protein-coding

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

Gene summary

This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_033347.2

Inheritance

—

ClinVar variants

U:52B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr11:65,592,836-65,595,996

External References & Databases

Ensembl (ENSG00000173338)

Transcript & Mutation Effects

hg38 • Region Span ~3.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KCNK7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 53

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_033347.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			49 clinvar	5 clinvar	1 clinvar	55
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	52	5	2	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_033347.2	RefSeq	NP_203133.1	3	MANE Select
ENST00000340313.5	Ensembl	ENSP00000344820.5	3	MANE Select
NM_005714.2	RefSeq	NP_005705.1	2	Standard
NM_033348.2	RefSeq	NP_203134.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuronal System
Phase 4 - resting membrane potential
Cardiac conduction
Muscle contraction
Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)

Biological Process

potassium ion transport
stabilization of membrane potential
regulation of ion transmembrane transport
potassium ion transmembrane transport

Molecular Function

voltage-gated ion channel activity
potassium channel activity
potassium ion leak channel activity

Cellular Component

plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340313
Coding exons: 3
Length: 3142
Individuals with no LoFs: 125363
Homozygous LoFs: 0
Heterozygous LoFs: 98
Defined: 125461
p: 0.000391

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0630	168	170	0.986	0.00000959	1859
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0013	notable
Latino/Admixed American	0.00036	0.00035	rare
Ashkenazi Jewish	0.0049	0.0048	notable
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00014	0.00013	rare
South Asian	0.000033	0.000033	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

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.;

Recessive Scores

pRec: 0.0921

Intolerance Scores

RVIS EVS: 0.42
RVIS percentile EVS: 77.16

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00337

Gene Damage Prediction

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