KCNMB3

potassium calcium-activated channel subfamily M regulatory beta subunit 3, the group of Potassium calcium-activated channel subfamily M regulatory beta subunits

Basic information

Region (hg38): 3:179236691-179267002

Previous symbols: [ "KCNMB2", "KCNMBL" ]

Links

ENSG00000171121 ∙ NCBI:27094 ∙ OMIM:605222 ∙ HGNC:6287 ∙ Uniprot:Q9NPA1 ∙ 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 KCNMB3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNMB3 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						0
missense			5	1	3	9
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	5	2	4

Variants in KCNMB3

This is a list of pathogenic ClinVar variants found in the KCNMB3 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-179240045-C-G			Likely benign (Apr 01, 2023)
3-179242931-C-G		not specified	Uncertain significance (Mar 18, 2024)
3-179242932-C-T		not specified	Uncertain significance (Oct 18, 2021)
3-179242978-CT-C		not specified	Benign (Mar 29, 2016)
3-179243043-G-A		not specified	Uncertain significance (Dec 26, 2023)
3-179243205-T-C		not specified	Uncertain significance (Oct 04, 2022)
3-179243237-G-C			Benign (Jul 12, 2018)
3-179243250-T-C			Benign (Aug 16, 2018)
3-179244569-A-T		not specified	Uncertain significance (Apr 04, 2023)
3-179244592-C-T		not specified	Uncertain significance (Jul 09, 2024)
3-179244656-T-C		not specified	Uncertain significance (Oct 13, 2023)
3-179250828-C-T		not specified	Likely benign (Nov 23, 2021)
3-179250833-C-T		not specified	Uncertain significance (Apr 04, 2024)
3-179250846-C-T			Benign (Apr 28, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNMB3	protein_coding	protein_coding	ENST00000314235	4	27261

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.30e-9	0.0454	125619	1	127	125747	0.000509

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.837	112	140	0.801	0.00000677	1845
Missense in Polyphen		34	43.907	0.77437		608
Synonymous	1.08	44	54.1	0.813	0.00000290	525
Loss of Function	-0.770	11	8.57	1.28	4.49e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00549	0.00551
Ashkenazi Jewish	0.000893	0.000893
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.0000544	0.0000544
South Asian	0.000392	0.000359
Other	0.000326	0.000326

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. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer. {ECO:0000269|PubMed:10766764, ECO:0000269|PubMed:10864947}.
• 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: 0.0686

Intolerance Scores

• loftool: 0.998
• rvis_EVS: 1.77
• rvis_percentile_EVS: 96.79

Haploinsufficiency Scores

• pHI: 0.0115
• hipred: N
• hipred_score: 0.234

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000180

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnmb3

Gene ontology

• Biological process: action potential;detection of calcium ion;potassium ion transport;neuronal action potential;potassium ion transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;voltage-gated potassium channel complex
• Molecular function: calcium-activated potassium channel activity;potassium channel regulator activity