KCNK12

protein-coding

potassium two pore domain channel subfamily K member 12, the group of Potassium two pore domain channel subfamily K

Gene summary

This gene encodes one of the members 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. [provided by RefSeq, Jul 2008]

MANE transcript

NM_022055.2

Inheritance

—

ClinVar variants

U:32B:29

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr2:47,509,290-47,570,985

External References & Databases

Ensembl (ENSG00000184261)

Transcript & Mutation Effects

hg38 • Region Span ~61.7 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 KCNK12 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 31

not providedTotal: 29

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022055.2. 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				25 clinvar	1 clinvar	26
missense			31 clinvar	3 clinvar		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	32	28	1	61

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022055.2	RefSeq	NP_071338.1	2	MANE Select
ENST00000327876.5	Ensembl	ENSP00000327611.3	2	MANE Select
ENST00001145416.1	Ensembl	ENSP00000807105.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Phase 4 - resting membrane potential
Cardiac conduction
Muscle contraction

Biological Process

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

Molecular Function

voltage-gated ion channel activity
potassium ion leak channel activity

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327876
Coding exons: 2
Length: 54359
Individuals with no LoFs: 108401
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 108402
p: 0.00000461

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.65	58	205	0.283	0.0000132	2679
Missense (PolyPhen)		7	86.335	0.081079		1132
Synonymous	1.24	79	94.4	0.837	0.00000643	954
Loss of Function	2.63	0	8.04	0.00	3.47e-7	106

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000010	0.000010	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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 (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.142

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.383

Gene Damage Prediction

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