KCNAB3

protein-coding

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

Gene summary

This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]

MANE transcript

NM_004732.4

Inheritance

ClinVar variants

U:72

Top phenotype

KCNAB3-related disorder

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr17:7,921,859-7,929,856

External References & Databases

Ensembl (ENSG00000170049)

Transcript & Mutation Effects

hg38 • Region Span ~8.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0700092

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KCNAB3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

KCNAB3-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004732.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			70 clinvar			70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	72	0	0	72

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004732.4	RefSeq	NP_004723.2	14	MANE Select
ENST00000303790.3	Ensembl	ENSP00000302719.2	14	MANE Select
ENST00000570587.5	Ensembl	ENSP00000458237.1	2	Standard
ENST00000570852.1	Ensembl	ENSP00000461290.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metapathway biotransformation Phase I and II
Neuronal System
Voltage gated Potassium channels
Potassium Channels

Biological Process

potassium ion transport
regulation of ion transmembrane transport
potassium ion transmembrane transport

Molecular Function

voltage-gated potassium channel activity
potassium channel regulator activity

Cellular Component

cytoplasm
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000303790
Coding exons: 14
Length: 7945
Individuals with no LoFs: 125592
Homozygous LoFs: 1
Heterozygous LoFs: 155
Defined: 125748
p: 0.000620

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.00559	236	236	0.999	0.0000129	2545
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00039	0.00037	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.00082	0.00082	rare
Finnish	0.00074	0.00074	rare
European (Non-Finnish)	0.00067	0.00067	rare
South Asian	0.00073	0.00069	rare
Other	0.00081	0.00081	rare

dbNSFP Gene Annotations

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}.;

Intolerance Scores

LoFtool: 0.834
RVIS EVS: -0.29
RVIS percentile EVS: 32.94

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.247

Gene Damage Prediction

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