KCNK16

potassium two pore domain channel subfamily K member 16, the group of Potassium two pore domain channel subfamily K

Basic information

Region (hg38): 6:39314698-39322968

Links

ENSG00000095981 ∙ NCBI:83795 ∙ OMIM:607369 ∙ HGNC:14464 ∙ Uniprot:Q96T55 ∙ 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 KCNK16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK16 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
missense			18	1		19
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	3	0

Variants in KCNK16

This is a list of pathogenic ClinVar variants found in the KCNK16 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-39315040-G-A			Likely benign (Dec 01, 2022)
6-39315304-G-A			Likely benign (Dec 01, 2022)
6-39316287-C-T			Likely benign (Dec 01, 2022)
6-39316796-C-T		not specified	Uncertain significance (Nov 05, 2021)
6-39316877-A-G		not specified	Uncertain significance (Apr 19, 2023)
6-39316904-G-A		not specified	Uncertain significance (Dec 09, 2023)
6-39317796-C-T		not specified	Uncertain significance (Jan 23, 2023)
6-39317803-G-A		not specified	Uncertain significance (Apr 26, 2024)
6-39317805-T-G		not specified	Uncertain significance (Nov 10, 2024)
6-39317831-A-C		not specified	Uncertain significance (Feb 07, 2023)
6-39317838-C-T		not specified	Uncertain significance (Jun 10, 2024)
6-39317839-G-A		not specified	Uncertain significance (Aug 12, 2024)
6-39317845-C-T		not specified	Uncertain significance (Jul 25, 2023)
6-39317909-G-C		not specified	Uncertain significance (Dec 21, 2023)
6-39317915-C-A		not specified	Uncertain significance (Feb 22, 2023)
6-39317919-C-T		not specified	Uncertain significance (Aug 04, 2024)
6-39317938-C-A		not specified	Uncertain significance (Jun 28, 2024)
6-39319021-A-C		not specified	Uncertain significance (Sep 13, 2023)
6-39319027-G-C		not specified	Uncertain significance (Oct 25, 2024)
6-39319075-C-T		not specified	Uncertain significance (Apr 26, 2023)
6-39319094-C-T		not specified	Uncertain significance (Jun 11, 2021)
6-39319100-G-T		not specified	Uncertain significance (Aug 12, 2024)
6-39322345-T-C		not specified	Uncertain significance (Sep 11, 2024)
6-39322383-C-T		not specified	Uncertain significance (Jun 12, 2023)
6-39322392-T-A		not specified	Uncertain significance (Jun 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNK16	protein_coding	protein_coding	ENST00000425054	5	8271

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000102	0.596	125526	0	222	125748	0.000883

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.914	140	174	0.805	0.00000864	2077
Missense in Polyphen		45	60.556	0.74311		739
Synonymous	0.458	65	69.9	0.930	0.00000365	646
Loss of Function	0.680	7	9.23	0.759	3.94e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000599	0.000599
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000924	0.000924
European (Non-Finnish)	0.00156	0.00157
Middle Eastern	0.000109	0.000109
South Asian	0.0000998	0.0000980
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents.
• Pathway: Neuronal System;Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction;TWIK-related alkaline pH activated K+ channel (TALK);Tandem pore domain potassium channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.0890

Intolerance Scores

• loftool: 0.866
• rvis_EVS: 1.11
• rvis_percentile_EVS: 92.04

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.243

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0953

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnk16
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism 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;protein binding;potassium ion leak channel activity