KCNH8

potassium voltage-gated channel subfamily H member 8, the group of Potassium voltage-gated channels|PAS domain containing

Basic information

Region (hg38): 3:19148510-19535642

Links

ENSG00000183960 ∙ NCBI:131096 ∙ OMIM:608260 ∙ HGNC:18864 ∙ Uniprot:Q96L42 ∙ 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 KCNH8 gene.

• not_specified (113 variants)
• not_provided (4 variants)
• Action_myoclonus-renal_failure_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNH8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000144633.3. 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				2	1	3
missense		1	111	1	2	115
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	111	3	3

Highest pathogenic variant AF is 0.000130272

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNH8	protein_coding	protein_coding	ENST00000328405	16	387193

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.29e-10	1.00	125687	0	61	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.20	509	591	0.861	0.0000312	7249
Missense in Polyphen		150	256.2	0.58547		3075
Synonymous	-1.14	250	228	1.10	0.0000129	2160
Loss of Function	3.51	25	52.4	0.477	0.00000294	615

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000682	0.000682
Ashkenazi Jewish	0.000203	0.000198
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000229	0.000229
Middle Eastern	0.000163	0.000163
South Asian	0.000294	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.
• Pathway: Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.120
• rvis_EVS: -0.48
• rvis_percentile_EVS: 22.8

Haploinsufficiency Scores

• pHI: 0.136
• hipred: Y
• hipred_score: 0.605
• ghis: 0.502

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0691

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnh8

Gene ontology

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