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
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 KCNMB4 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 9 | 0 | 0 |
Variants in KCNMB4
This is a list of pathogenic ClinVar variants found in the KCNMB4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-70366750-G-T | not specified | Uncertain significance (Jan 18, 2023) | ||
| 12-70366757-A-C | not specified | Uncertain significance (Feb 22, 2023) | ||
| 12-70366810-A-G | not specified | Uncertain significance (Aug 30, 2022) | ||
| 12-70400312-C-T | not specified | Uncertain significance (Feb 06, 2024) | ||
| 12-70430573-G-T | not specified | Uncertain significance (Jul 09, 2021) | ||
| 12-70430594-A-G | not specified | Uncertain significance (Aug 08, 2023) | ||
| 12-70430605-G-T | not specified | Uncertain significance (Aug 19, 2023) | ||
| 12-70430639-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
| 12-70430640-G-A | not specified | Uncertain significance (Jan 31, 2022) |
GnomAD
Source:
| 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:
- 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