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): 5:170374671-170389634
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | 2 | |||||
| missense | 14 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 1 | 3 |
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) | ||
| 5-170383753-A-G | not specified | Uncertain significance (Apr 09, 2024) | ||
| 5-170383792-C-T | Hypertension, diastolic, resistance to • KCNMB1-related disorder | Benign; protective (Nov 26, 2019) | ||
| 5-170385354-A-G | not specified | Uncertain significance (Jun 06, 2023) | ||
| 5-170385366-C-T | not specified | Uncertain significance (May 24, 2024) | ||
| 5-170385394-G-A | Benign (Dec 08, 2017) | |||
| 5-170385408-T-A | not specified | Uncertain significance (Jun 10, 2024) | ||
| 5-170385435-G-T | not specified | Uncertain significance (Aug 22, 2023) |
GnomAD
Source:
| 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:
- 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