CACNB1
calcium voltage-gated channel auxiliary subunit beta 1, the group of Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits
Basic information
Region (hg38): 17:39173453-39197702
Previous symbols: [ "CACNLB1" ]
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 CACNB1 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 | 6 | |||||
| missense | 24 | 24 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 24 | 4 | 2 |
Variants in CACNB1
This is a list of pathogenic ClinVar variants found in the CACNB1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 17-39175221-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
| 17-39175303-G-A | not specified | Uncertain significance (Aug 01, 2023) | ||
| 17-39175323-T-C | not specified | Uncertain significance (Aug 01, 2022) | ||
| 17-39175347-C-A | not specified | Uncertain significance (Feb 23, 2023) | ||
| 17-39175388-G-T | not specified | Uncertain significance (Mar 17, 2023) | ||
| 17-39175390-C-T | not specified | Uncertain significance (Apr 27, 2022) | ||
| 17-39175399-C-A | not specified | Uncertain significance (May 17, 2023) | ||
| 17-39175529-C-T | Benign (Jun 13, 2018) | |||
| 17-39175559-G-T | Likely benign (Nov 01, 2022) | |||
| 17-39175598-G-A | Benign (Nov 15, 2018) | |||
| 17-39175612-C-T | not specified | Uncertain significance (Dec 09, 2023) | ||
| 17-39177394-T-C | not specified | Uncertain significance (Dec 17, 2023) | ||
| 17-39177448-T-C | not specified | Uncertain significance (Jan 20, 2023) | ||
| 17-39177463-C-T | not specified | Uncertain significance (Apr 26, 2023) | ||
| 17-39177465-T-A | not specified | Uncertain significance (Sep 20, 2023) | ||
| 17-39177487-C-T | not specified | Uncertain significance (Sep 22, 2022) | ||
| 17-39177989-G-T | not specified | Uncertain significance (Jan 20, 2023) | ||
| 17-39178014-C-T | Likely benign (Jan 01, 2023) | |||
| 17-39183775-C-T | not specified | Uncertain significance (Nov 05, 2021) | ||
| 17-39184082-T-G | not specified | Uncertain significance (May 14, 2024) | ||
| 17-39184096-C-T | not specified | Uncertain significance (May 20, 2024) | ||
| 17-39184383-C-A | Uncertain significance (Jan 01, 2018) | |||
| 17-39184815-A-G | not specified | Uncertain significance (Oct 24, 2023) | ||
| 17-39184851-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
| 17-39184857-T-C | not specified | Uncertain significance (Feb 03, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CACNB1 | protein_coding | protein_coding | ENST00000394303 | 14 | 24248 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.787 | 0.213 | 125724 | 0 | 22 | 125746 | 0.0000875 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.14 | 260 | 377 | 0.690 | 0.0000244 | 3839 |
| Missense in Polyphen | 138 | 217.67 | 0.63399 | 2169 | ||
| Synonymous | 1.97 | 123 | 154 | 0.798 | 0.00000984 | 1228 |
| Loss of Function | 4.21 | 6 | 31.5 | 0.190 | 0.00000174 | 345 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000160 | 0.000153 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000133 | 0.000132 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000131 | 0.000131 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore- forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964). {ECO:0000250|UniProtKB:P19517, ECO:0000269|PubMed:1309651, ECO:0000269|PubMed:15615847, ECO:0000269|PubMed:8107964}.;
- Pathway
- Oxytocin signaling pathway - Homo sapiens (human);Cardiac muscle contraction - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;Levomethadyl Acetate Action Action Pathway;Disopyramide Action Pathway;Procainamide (Antiarrhythmic) Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Fosphenytoin (Antiarrhythmic) Action Pathway;Bopindolol Action Pathway;Timolol Action Pathway;Carteolol Action Pathway;Fluoxetine Action Pathway;Citalopram Action Pathway;Escitalopram Action Pathway;Imipramine Action Pathway;Desipramine Action Pathway;Levallorphan Action Pathway;Dimethylthiambutene Action Pathway;Ethylmorphine Action Pathway;Pentazocine Action Pathway;Naltrexone Action Pathway;Buprenorphine Action Pathway;Alvimopan Action Pathway;Naloxone Action Pathway;Dihydromorphine Action Pathway;Bevantolol Action Pathway;Practolol Action Pathway;Glibenclamide Action Pathway;Gliclazide Action Pathway;Dobutamine Action Pathway;Isoprenaline Action Pathway;Arbutamine Action Pathway;Amiodarone Action Pathway;Levobunolol Action Pathway;Metipranolol Action Pathway;Mexiletine Action Pathway;Lidocaine (Antiarrhythmic) Action Pathway;Quinidine Action Pathway;Sotalol Action Pathway;Epinephrine Action Pathway;Betaxolol Action Pathway;Atenolol Action Pathway;Alprenolol Action Pathway;Acebutolol Action Pathway;Nicotine Action Pathway;Nalbuphine Action Pathway;Ketobemidone Action Pathway;Lidocaine (Local Anaesthetic) Action Pathway;Mepivacaine Action Pathway;Chloroprocaine Action Pathway;Cocaine Action Pathway;Dibucaine Action Pathway;Levobupivacaine Action Pathway;Benzocaine Action Pathway;Bupivacaine Action Pathway;Muscle/Heart Contraction;Diltiazem Action Pathway;Propranolol Action Pathway;Pindolol Action Pathway;Penbutolol Action Pathway;Oxprenolol Action Pathway;Metoprolol Action Pathway;Esmolol Action Pathway;Bisoprolol Action Pathway;Levorphanol Action Pathway;Propoxyphene Action Pathway;Tramadol Action Action Pathway;Bupranolol Action Pathway;Diphenoxylate Action Pathway;Anileridine Action Pathway;Methadone Action Pathway;Oxycodone Action Pathway;Oxybuprocaine Action Pathway;Prilocaine Action Pathway;Procaine Action Pathway;Proparacaine Action Pathway;Ropivacaine Action Pathway;Codeine Action Pathway;Morphine Action Pathway;Heroin Action Pathway;Nebivolol Action Pathway;Amlodipine Action Pathway;Verapamil Action Pathway;Nitrendipine Action Pathway;Nisoldipine Action Pathway;Nimodipine Action Pathway;Ibutilide Action Pathway;Tocainide Action Pathway;Flecainide Action Pathway;Pancreas Function;Alfentanil Action Pathway;Oxymorphone Action Pathway;Hydrocodone Action Pathway;Hydromorphone Action Pathway;Sufentanil Action Pathway;Remifentanil Action Pathway;Fentanyl Action Pathway;Carfentanil Action Pathway;Felodipine Metabolism Pathway;Isradipine Action Pathway;Nifedipine Action Pathway;Felodipine Action Pathway;Nadolol Action Pathway;Carvedilol Action Pathway;Labetalol Action Pathway;Repaglinide Action Pathway;Nateglinide Action Pathway;3-Methylthiofentanyl Action Pathway;Methadyl Acetate Action Pathway;Dezocine Action Pathway;Arrhythmogenic Right Ventricular Cardiomyopathy;MAPK Signaling Pathway;Calcium Regulation in the Cardiac Cell;Developmental Biology;GPCR Dopamine D1like receptor;Neuronal System;Phase 0 - rapid depolarisation;Phase 2 - plateau phase;Cardiac conduction;Muscle contraction;Presynaptic depolarization and calcium channel opening;NCAM signaling for neurite out-growth;NCAM1 interactions;Transmission across Chemical Synapses;Axon guidance
(Consensus)
Recessive Scores
- pRec
- 0.119
Intolerance Scores
- loftool
- 0.121
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.73
Haploinsufficiency Scores
- pHI
- 0.0980
- hipred
- Y
- hipred_score
- 0.685
- ghis
- 0.577
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.322
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cacnb1
- Phenotype
- muscle phenotype; limbs/digits/tail phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Zebrafish Information Network
- Gene name
- cacnb1
- Affected structure
- slow muscle cell
- Phenotype tag
- abnormal
- Phenotype quality
- undulate
Gene ontology
- Biological process
- chemical synaptic transmission;neuromuscular junction development;calcium ion transmembrane transport;regulation of voltage-gated calcium channel activity;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;cellular response to amyloid-beta
- Cellular component
- plasma membrane;voltage-gated calcium channel complex;sarcolemma
- Molecular function
- voltage-gated calcium channel activity;high voltage-gated calcium channel activity