KCNK12

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

Basic information

Region (hg38): 2:47509290-47570985

Links

ENSG00000184261 ∙ NCBI:56660 ∙ OMIM:607366 ∙ HGNC:6274 ∙ Uniprot:Q9HB15 ∙ 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 KCNK12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK12 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			13	3		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	5	6	13
Total	0	0	15	9	7

Variants in KCNK12

This is a list of pathogenic ClinVar variants found in the KCNK12 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-47512362-A-G			Likely benign (Jul 01, 2022)
2-47512363-C-G		Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 17, 2019)
2-47512367-G-T		Hereditary cancer-predisposing syndrome	Benign (Jul 17, 2015)
2-47512369-G-A		Hereditary cancer	Likely benign (Jan 23, 2024)
2-47512371-G-T		Hereditary cancer-predisposing syndrome	Likely benign (Jun 15, 2015)
2-47512372-G-T		Hereditary cancer-predisposing syndrome	Benign (Nov 17, 2015)
2-47512382-C-G		Lynch syndrome 1	Uncertain significance (May 28, 2019)
2-47512385-C-T		not specified • Hereditary cancer-predisposing syndrome	Likely benign (Feb 09, 2015)
2-47512393-C-T		Hereditary cancer-predisposing syndrome	Benign (Jul 24, 2015)
2-47512394-G-A		not specified	not provided (Sep 19, 2013)
2-47512412-A-G		not specified	Benign (-)
2-47512428-C-T		Hereditary cancer-predisposing syndrome	Benign (May 01, 2023)
2-47512435-C-G		Hereditary cancer-predisposing syndrome	Benign (Apr 23, 2015)
2-47512439-G-C		Hereditary cancer-predisposing syndrome	Benign (Feb 01, 2023)
2-47512519-C-A		Lynch syndrome 1	Likely benign (May 28, 2019)
2-47520914-G-C		not specified	Uncertain significance (Dec 01, 2022)
2-47520998-C-T		not specified	Uncertain significance (Dec 20, 2023)
2-47521127-T-G		not specified	Uncertain significance (Sep 17, 2021)
2-47521131-T-G		not specified	Uncertain significance (Sep 17, 2021)
2-47521133-T-G		not specified	Uncertain significance (Jul 13, 2021)
2-47521249-G-A			Benign/Likely benign (Aug 01, 2024)
2-47521348-G-A			Benign (Apr 20, 2018)
2-47521487-A-T		not specified	Uncertain significance (Mar 15, 2024)
2-47521587-T-A		not specified	Likely benign (Apr 07, 2023)
2-47521588-G-C		not specified	Uncertain significance (Oct 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNK12	protein_coding	protein_coding	ENST00000327876	2	54359

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.919	0.0810	108401	0	1	108402	0.00000461

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.65	58	205	0.283	0.0000132	2679
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000104	0.0000104
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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 (By similarity). {ECO:0000250}.
• Pathway: Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.142

Haploinsufficiency Scores

• pHI: 0.418
• hipred: Y
• hipred_score: 0.736

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.383

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnk12

Gene ontology

• Biological process: stabilization of membrane potential;regulation of ion transmembrane transport;potassium ion transmembrane transport
• Cellular component: integral component of plasma membrane
• Molecular function: voltage-gated ion channel activity;potassium ion leak channel activity