KCNK5

potassium two pore domain channel subfamily K member 5, the group of Potassium two pore domain channel subfamily K

Basic information

Region (hg38): 6:39188971-39229475

Links

ENSG00000164626NCBI:8645OMIM:603493HGNC:6280Uniprot:O95279AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCNK5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK5 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
2
clinvar
2
missense
28
clinvar
2
clinvar
2
clinvar
32
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 28 4 2

Variants in KCNK5

This is a list of pathogenic ClinVar variants found in the KCNK5 region.

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

Position Type Phenotype Significance ClinVar
6-39190997-G-T Benign (Oct 29, 2020)1239991
6-39191065-T-C not specified Uncertain significance (Sep 16, 2021)2250304
6-39191171-C-T Benign (Nov 02, 2017)790348
6-39191183-C-T not specified Uncertain significance (Mar 02, 2023)2493215
6-39191205-C-T Likely benign (Apr 10, 2018)739754
6-39191217-G-C not specified Uncertain significance (Sep 14, 2023)2596271
6-39191225-C-T not specified Uncertain significance (Nov 08, 2022)2371497
6-39191249-G-A not specified Uncertain significance (Jan 26, 2022)2273654
6-39191264-C-G not specified Uncertain significance (Jan 30, 2024)3113409
6-39191288-C-T not specified Uncertain significance (Oct 02, 2023)3113408
6-39191296-T-A KCNK5-related disorder Likely benign (Mar 18, 2022)3043088
6-39191308-G-A not specified Uncertain significance (Dec 03, 2021)2214245
6-39191336-C-T not specified Uncertain significance (Oct 12, 2021)2377168
6-39191339-G-A not specified Uncertain significance (Feb 02, 2022)2368273
6-39191396-C-T KCNK5-related disorder Likely benign (May 09, 2022)3054894
6-39191441-C-G not specified Uncertain significance (Dec 14, 2023)3113413
6-39191442-G-A Likely benign (Feb 01, 2024)2656531
6-39191461-T-C not specified Uncertain significance (Nov 07, 2022)2323362
6-39191528-C-T not specified Uncertain significance (Jan 06, 2023)2470913
6-39191570-G-C not specified Uncertain significance (Jun 09, 2022)2412310
6-39191611-C-T not specified Uncertain significance (Aug 09, 2021)2365335
6-39191720-G-A not specified Uncertain significance (Jul 08, 2022)2300112
6-39194262-C-T not specified Uncertain significance (Oct 13, 2023)3113412
6-39194301-C-T not specified Uncertain significance (Apr 12, 2022)2379032
6-39194321-G-A not specified Uncertain significance (Jan 12, 2024)3113411

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KCNK5protein_codingprotein_codingENST00000359534 540478
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3250.6741257380101257480.0000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.972032990.6800.00001853238
Missense in Polyphen63120.090.524621294
Synonymous-0.2841381341.030.000009171027
Loss of Function2.95417.20.2328.30e-7199

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001850.000185
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00003540.0000352
Middle Eastern0.00005440.0000544
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations.;
Pathway
Protein digestion and absorption - Homo sapiens (human);Taste transduction - Homo sapiens (human);Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction (Consensus)

Recessive Scores

pRec
0.114

Intolerance Scores

loftool
0.160
rvis_EVS
0.0000761
rvis_percentile_EVS
53.98

Haploinsufficiency Scores

pHI
0.506
hipred
Y
hipred_score
0.728
ghis
0.426

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.587

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kcnk5
Phenotype
homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); renal/urinary system phenotype; respiratory system phenotype;

Zebrafish Information Network

Gene name
kcnk5b
Affected structure
lepidotrichium segment
Phenotype tag
abnormal
Phenotype quality
increased variability of size

Gene ontology

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