CACNG7
calcium voltage-gated channel auxiliary subunit gamma 7, the group of Calcium channel auxiliary gamma subunits
Basic information
Region (hg38): 19:53909278-53943950
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 CACNG7 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 | 16 | 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 | 16 | 0 | 0 |
Variants in CACNG7
This is a list of pathogenic ClinVar variants found in the CACNG7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-53912853-G-C | not specified | Uncertain significance (Dec 19, 2022) | ||
| 19-53912909-C-G | not specified | Uncertain significance (Oct 05, 2023) | ||
| 19-53912911-C-T | not specified | Uncertain significance (Jan 16, 2024) | ||
| 19-53912931-C-G | not specified | Uncertain significance (Feb 05, 2024) | ||
| 19-53912937-A-G | not specified | Uncertain significance (Feb 21, 2024) | ||
| 19-53912978-G-T | not specified | Uncertain significance (Nov 08, 2021) | ||
| 19-53912997-G-A | not specified | Uncertain significance (Jan 29, 2025) | ||
| 19-53914502-C-T | not specified | Uncertain significance (Mar 02, 2023) | ||
| 19-53914503-G-A | not specified | Uncertain significance (Jul 12, 2022) | ||
| 19-53914503-G-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 19-53914545-C-T | not specified | Uncertain significance (Nov 18, 2022) | ||
| 19-53914547-G-A | not specified | Uncertain significance (Aug 27, 2024) | ||
| 19-53915461-G-A | not specified | Uncertain significance (May 22, 2023) | ||
| 19-53942094-A-G | not specified | Uncertain significance (Feb 05, 2025) | ||
| 19-53942105-C-G | not specified | Uncertain significance (Nov 11, 2024) | ||
| 19-53942163-A-G | not specified | Uncertain significance (Sep 13, 2023) | ||
| 19-53942191-C-G | not specified | Uncertain significance (Aug 12, 2021) | ||
| 19-53942213-G-T | not specified | Uncertain significance (Feb 19, 2025) | ||
| 19-53942249-A-G | Intellectual disability | Likely pathogenic (-) | ||
| 19-53942262-A-G | not specified | Uncertain significance (Jul 20, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CACNG7 | protein_coding | protein_coding | ENST00000391767 | 5 | 34607 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.887 | 0.113 | 125745 | 0 | 3 | 125748 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.65 | 124 | 187 | 0.662 | 0.0000119 | 1796 |
| Missense in Polyphen | 40 | 65.517 | 0.61053 | 615 | ||
| Synonymous | 0.461 | 80 | 85.4 | 0.937 | 0.00000613 | 555 |
| Loss of Function | 2.87 | 1 | 11.5 | 0.0871 | 5.73e-7 | 122 |
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) | 0.0000265 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2 (PubMed:21172611). {ECO:0000269|PubMed:21127204, ECO:0000269|PubMed:21172611}.;
- 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);Arrhythmogenic Right Ventricular Cardiomyopathy;MAPK Signaling Pathway;Phase 0 - rapid depolarisation;Phase 2 - plateau phase;Cardiac conduction;Muscle contraction
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- 0.268
- rvis_EVS
- -0.32
- rvis_percentile_EVS
- 31.46
Haploinsufficiency Scores
- pHI
- 0.279
- hipred
- Y
- hipred_score
- 0.789
- ghis
- 0.701
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.508
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cacng7
- Phenotype
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype; normal phenotype;
Gene ontology
- Biological process
- calcium ion transport;transmission of nerve impulse;regulation of mRNA stability;positive regulation of synaptic transmission, glutamatergic;calcium ion transmembrane transport;neurotransmitter receptor transport, postsynaptic endosome to lysosome;postsynaptic neurotransmitter receptor diffusion trapping;neurotransmitter receptor internalization;positive regulation of dendrite extension;regulation of AMPA receptor activity
- Cellular component
- early endosome;plasma membrane;voltage-gated calcium channel complex;AMPA glutamate receptor complex;neuronal cell body;cerebellar mossy fiber;postsynaptic density membrane;glutamatergic synapse;integral component of postsynaptic density membrane;L-type voltage-gated calcium channel complex
- Molecular function
- voltage-gated calcium channel activity;calcium channel regulator activity;channel regulator activity