KCNE5

potassium voltage-gated channel subfamily E regulatory subunit 5, the group of Potassium voltage-gated channel regulatory subunits

Basic information

Region (hg38): X:109623700-109625172

Previous symbols: [ "KCNE1L" ]

Links

ENSG00000176076 ∙ NCBI:23630 ∙ OMIM:300328 ∙ HGNC:6241 ∙ Uniprot:Q9UJ90 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Brugada syndrome (Limited), mode of inheritance: Unknown
• Brugada syndrome (Disputed Evidence), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCNE5 gene.

• Brugada_syndrome (71 variants)
• not_specified (62 variants)
• not_provided (7 variants)
• KCNE5-related_disorder (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNE5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012282.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				34		34
missense			60	3	1	64
nonsense			3	1		4
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	38	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNE5	protein_coding	protein_coding	ENST00000372101	1	1465

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.119	0.622	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.407	60	69.5	0.863	0.00000639	876
Missense in Polyphen		10	17.284	0.57858		246
Synonymous	1.32	26	36.1	0.721	0.00000366	318
Loss of Function	0.396	1	1.53	0.654	1.33e-7	20

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1. {ECO:0000269|PubMed:12324418}.
• Pathway: Antiarrhythmic Pathway, Pharmacodynamics;Phase 2 - plateau phase;Phase 3 - rapid repolarisation;Cardiac conduction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.106

Haploinsufficiency Scores

• pHI: 0.237
• hipred: N
• hipred_score: 0.170
• ghis: 0.413

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Kcne1l

Gene ontology

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