KCNMB4

potassium calcium-activated channel subfamily M regulatory beta subunit 4, the group of Potassium calcium-activated channel subfamily M regulatory beta subunits

Basic information

Region (hg38): 12:70366290-70434292

Links

ENSG00000135643

∙ NCBI:27345 ∙ OMIM:605223 ∙ HGNC:6289 ∙ Uniprot:Q86W47 ∙ 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 KCNMB4 gene.

not_specified (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNMB4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014505.6. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			15 clinvar			15
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	15	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNMB4	protein_coding	protein_coding	ENST00000258111	3	68017

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.939	0.0612	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.06	54	117	0.463	0.00000549	1376
Missense in Polyphen		14	35.286	0.39676		391
Synonymous	0.240	51	53.2	0.958	0.00000263	406
Loss of Function	2.76	0	8.85	0.00	3.78e-7	96

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: Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations. {ECO:0000269|PubMed:10692449, ECO:0000269|PubMed:10792058, ECO:0000269|PubMed:10828459}.;
Pathway: Vascular smooth muscle contraction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Neuronal System;Hemostasis;Ca2+ activated K+ channels;cGMP effects;Nitric oxide stimulates guanylate cyclase;Platelet homeostasis;Potassium Channels (Consensus)

Recessive Scores

pRec: 0.130

Intolerance Scores

loftool
rvis_EVS: -0.03
rvis_percentile_EVS: 51.04

Haploinsufficiency Scores

pHI: 0.166
hipred: Y
hipred_score: 0.641
ghis: 0.618

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Kcnmb4
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); normal phenotype;

Gene ontology

Biological process: action potential;detection of calcium ion;potassium ion transport;chemical synaptic transmission;neuronal action potential;regulation of vasoconstriction;regulation of neurotransmitter secretion;potassium ion transmembrane transport
Cellular component: plasma membrane;integral component of plasma membrane;voltage-gated potassium channel complex
Molecular function: protein binding;calcium-activated potassium channel activity;potassium channel regulator activity