GeneBe

KCNAB1

protein-coding

potassium voltage-gated channel subfamily A regulatory beta subunit 1, the group of Potassium voltage-gated channel regulatory subunits|Aldo-keto reductases

Gene summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]

MANE transcript

NM_172160.3

Inheritance

—

ClinVar variants

U:27B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr3:156,037,701-156,538,756

External References & Databases

Ensembl (ENSG00000169282)NCBI Gene (7881)OMIM (601141)HGNC:6228GenCCUniProt (Q14722)AlphaFoldClinVar (KCNAB1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~501.1 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KCNAB1 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 24
not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_172160.3. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
25
clinvar
1
clinvar
2
clinvar
 28
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total00271432
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_172160.3RefSeqNP_751892.114MANE Select
ENST00000490337.6EnsemblENSP00000419952.114MANE Select
NM_001308217.1RefSeqNP_001295146.113Standard
NM_001308222.1RefSeqNP_001295151.113Standard

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
  • brain development
  • heart development
  • skeletal muscle tissue development
  • learning or memory

Molecular Function

  • aldo-keto reductase (NADP) activity
  • voltage-gated potassium channel activity
  • potassium channel regulator activity
  • protein domain specific binding
  • ion channel binding

Cellular Component

  • cytosol
  • plasma membrane
  • voltage-gated potassium channel complex
  • extrinsic component of cytoplasmic side of plasma membrane
  • dendrite cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000490337
Coding exons
14
Length
501056
Individuals with no LoFs
125705
Homozygous LoFs
0
Heterozygous LoFs
43
Defined
125748
p
0.000171
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.151422350.6050.00001262706
Missense (PolyPhen)3179.3110.39087954
Synonymous0.5908289.10.9210.00000528806
Loss of Function3.56828.50.2810.00000135326

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000620.000062rare
Latino/Admixed American0.000230.00023rare
Ashkenazi Jewish00.0absent
East Asian0.0000540.000054rare
Finnish00.0absent
European (Non-Finnish)0.000270.00027rare
South Asian0.0000650.000065rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7499366, PubMed:7603988, PubMed:17156368,PubMed:17540341, PubMed:19713757). Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed:9763623). Promotes the closure of KCNA1, KCNA2 and KCNA5 channels (PubMed:7499366, PubMed:7890032, PubMed:7603988, PubMed:7649300, PubMed:8938711, PubMed:12077175, PubMed:12130714, PubMed:15361858, PubMed:17540341, PubMed:19713757). Accelerates KCNA4 channel closure (PubMed:7890032, PubMed:7649300, PubMed:7890764, PubMed:9763623). Accelerates the closure of heteromeric channels formed by KCNA1 and KCNA4 (PubMed:17156368). Accelerates the closure of heteromeric channels formed by KCNA2, KCNA5 and KCNA6 (By similarity). Isoform KvB1.2 has no effect on KCNA1, KCNA2 or KCNB1 (PubMed:7890032, PubMed:7890764). Enhances KCNB1 and KCNB2 channel activity (By similarity). Binds NADPH; this is required for efficient down-regulation of potassium channel activity (PubMed:17540341). Has NADPH-dependent aldoketoreductase activity (By similarity). Oxidation of the bound NADPH strongly decreases N-type inactivation of potassium channel activity (By similarity). {ECO:0000250|UniProtKB:P63143, ECO:0000250|UniProtKB:P63144, ECO:0000269|PubMed:12077175, ECO:0000269|PubMed:12130714, ECO:0000269|PubMed:15361858, ECO:0000269|PubMed:17156368, ECO:0000269|PubMed:17540341, ECO:0000269|PubMed:19713757, ECO:0000269|PubMed:7499366, ECO:0000269|PubMed:7603988, ECO:0000269|PubMed:7649300, ECO:0000269|PubMed:7890032, ECO:0000269|PubMed:7890764, ECO:0000269|PubMed:8938711, ECO:0000269|PubMed:9763623, ECO:0000305}.;

Recessive Scores

pRec
0.162

Intolerance Scores

LoFtool
0.709
RVIS EVS
-0.44
RVIS percentile EVS
24.46

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.432

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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