KCNMB1

potassium calcium-activated channel subfamily M regulatory beta subunit 1, the group of Potassium calcium-activated channel subfamily M regulatory beta subunits

Basic information

Region (hg38): 5:170374670-170389634

Links

ENSG00000145936 ∙ NCBI:3779 ∙ OMIM:603951 ∙ HGNC:6285 ∙ Uniprot:Q16558 ∙ 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 KCNMB1 gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNMB1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	1

Variants in KCNMB1

This is a list of pathogenic ClinVar variants found in the KCNMB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-170378753-G-T		not specified	Uncertain significance (Apr 07, 2023)
5-170378801-G-C		not specified	Uncertain significance (Jan 03, 2022)
5-170378844-C-T		not specified	Uncertain significance (Sep 01, 2021)
5-170378846-C-T		not specified	Uncertain significance (Apr 25, 2022)
5-170378862-G-A		KCNMB1-related disorder	Benign (Jul 30, 2019)
5-170378867-G-A		not specified	Uncertain significance (Nov 30, 2022)
5-170378901-A-T		not specified	Uncertain significance (Nov 12, 2021)
5-170378943-A-C		not specified	Uncertain significance (Dec 06, 2021)
5-170378960-G-A		not specified	Uncertain significance (Oct 12, 2021)
5-170383686-T-C		not specified	Uncertain significance (Feb 22, 2023)
5-170383695-C-T		not specified	Uncertain significance (May 11, 2022)
5-170383707-G-A		not specified	Uncertain significance (Apr 12, 2022)
5-170383744-C-G		not specified	Uncertain significance (Sep 27, 2021)
5-170383745-G-A		KCNMB1-related disorder	Likely benign (Jun 26, 2019)
5-170383792-C-T		Hypertension, diastolic, resistance to • KCNMB1-related disorder	Benign (Nov 26, 2019)
5-170385354-A-G		not specified	Uncertain significance (Jun 06, 2023)
5-170385394-G-A			Benign (Dec 08, 2017)
5-170385435-G-T		not specified	Uncertain significance (Aug 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNMB1	protein_coding	protein_coding	ENST00000274629	3	15007

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000207	0.282	125685	0	63	125748	0.000251

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.219	112	119	0.944	0.00000734	1223
Missense in Polyphen		55	52.203	1.0536		502
Synonymous	-0.0321	56	55.7	1.01	0.00000382	395
Loss of Function	0.188	9	9.63	0.935	5.13e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000503	0.000503
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000343	0.000343
Middle Eastern	0.000163	0.000163
South Asian	0.000131	0.000131
Other	0.000163	0.000163

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. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate.
• 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: 0.136

Intolerance Scores

• loftool: 0.731
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.37

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.245
• ghis: 0.519

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.754

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnmb1
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); renal/urinary system phenotype; muscle phenotype

Gene ontology

• Biological process: detection of calcium ion;potassium ion transport;chemical synaptic transmission;aging;cellular response to ethanol;cellular response to hypoxia;potassium ion transmembrane transport;positive regulation of blood vessel diameter;positive regulation of potassium ion transmembrane transport;cellular response to bile acid
• Cellular component: plasma membrane;voltage-gated potassium channel complex
• Molecular function: calcium-activated potassium channel activity;potassium channel regulator activity