KCNAB3

potassium voltage-gated channel subfamily A regulatory beta subunit 3, the group of Potassium voltage-gated channel regulatory subunits|Aldo-keto reductases

Basic information

Region (hg38): 17:7921859-7929856

Links

ENSG00000170049 ∙ NCBI:9196 ∙ OMIM:604111 ∙ HGNC:6230 ∙ Uniprot:O43448 ∙ 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 KCNAB3 gene.

• not_specified (60 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNAB3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004732.4. 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						0
missense			60			60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNAB3	protein_coding	protein_coding	ENST00000303790	14	7945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.43e-17	0.0297	125592	1	155	125748	0.000620

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00559	236	236	0.999	0.0000129	2545
Missense in Polyphen		102	105.23	0.96929		1194
Synonymous	0.293	93	96.7	0.962	0.00000568	829
Loss of Function	0.674	28	32.1	0.872	0.00000199	299

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000703	0.000687
Ashkenazi Jewish	0.000595	0.000595
East Asian	0.000816	0.000816
Finnish	0.000740	0.000739
European (Non-Finnish)	0.000672	0.000668
Middle Eastern	0.000816	0.000816
South Asian	0.000725	0.000686
Other	0.000815	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5. {ECO:0000269|PubMed:9857044}.
• Pathway: Metapathway biotransformation Phase I and II;Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Intolerance Scores

• loftool: 0.834
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• pHI: 0.279
• hipred: N
• hipred_score: 0.230
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.247

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnab3

Gene ontology

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