KCNE4

potassium voltage-gated channel subfamily E regulatory subunit 4, the group of Potassium voltage-gated channel regulatory subunits

Basic information

Region (hg38): 2:223052189-223198399

Links

ENSG00000152049 ∙ NCBI:23704 ∙ OMIM:607775 ∙ HGNC:6244 ∙ Uniprot:Q8WWG9 ∙ 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 KCNE4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNE4 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						0
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in KCNE4

This is a list of pathogenic ClinVar variants found in the KCNE4 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-223052864-C-A		not specified	Uncertain significance (Jan 26, 2022)
2-223052978-T-G		not specified	Uncertain significance (Jun 06, 2023)
2-223053004-G-T		not specified	Uncertain significance (Apr 22, 2024)
2-223053069-G-C		not specified	Uncertain significance (Apr 22, 2022)
2-223053071-G-T		not specified	Uncertain significance (Feb 27, 2024)
2-223053104-G-C		not specified	Uncertain significance (Apr 04, 2024)
2-223053164-G-T		not specified	Uncertain significance (Apr 04, 2023)
2-223053222-C-T		not specified	Uncertain significance (Apr 12, 2023)
2-223053330-A-G		not specified	Uncertain significance (May 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNE4	protein_coding	protein_coding	ENST00000604125	1	146586

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.244	0.653	125641	0	3	125644	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.338	104	114	0.911	0.00000765	1106
Missense in Polyphen		31	39.882	0.7773		451
Synonymous	0.192	57	58.9	0.968	0.00000487	347
Loss of Function	1.18	1	3.33	0.300	1.42e-7	44

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000928	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000882	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. May associate with KCNQ1/KVLTQ1 and inhibit potassium current.
• Pathway: Antiarrhythmic Pathway, Pharmacodynamics;Phase 2 - plateau phase;Phase 3 - rapid repolarisation;Cardiac conduction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.337
• hipred: Y
• hipred_score: 0.636
• ghis: 0.523

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.301

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcne4

Gene ontology

• Biological process: regulation of ventricular cardiac muscle cell membrane repolarization;ventricular cardiac muscle cell action potential;membrane repolarization during action potential;regulation of heart rate by cardiac conduction;potassium ion export across plasma membrane;membrane repolarization during ventricular cardiac muscle cell action potential;negative regulation of delayed rectifier potassium channel activity
• Cellular component: voltage-gated potassium channel complex;apical plasma membrane
• Molecular function: delayed rectifier potassium channel activity;protein binding;potassium channel regulator activity;ion channel binding;voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization