CAV2
caveolin 2, the group of Caveolins
Basic information
Region (hg38): 7:116287380-116508541
Links
Phenotypes
GenCC
Source:
- amyotrophic lateral sclerosis (Limited), mode of inheritance: AD
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 CAV2 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 | 11 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 1 | 1 |
Variants in CAV2
This is a list of pathogenic ClinVar variants found in the CAV2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-116499791-G-C | not specified | Uncertain significance (Dec 27, 2022) | ||
| 7-116499795-C-A | not specified | Uncertain significance (Feb 03, 2022) | ||
| 7-116499858-A-C | not specified | Uncertain significance (Jun 13, 2024) | ||
| 7-116499905-C-T | not specified | Uncertain significance (Dec 02, 2022) | ||
| 7-116500276-T-A | not specified | Uncertain significance (Oct 12, 2021) | ||
| 7-116500342-A-T | not specified | Uncertain significance (Apr 20, 2024) | ||
| 7-116505987-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
| 7-116505993-A-G | not specified | Uncertain significance (Dec 22, 2023) | ||
| 7-116506010-G-A | not specified | Likely benign (Jul 06, 2023) | ||
| 7-116506069-C-T | not specified | Uncertain significance (Jan 24, 2024) | ||
| 7-116506073-C-T | Benign (May 15, 2018) | |||
| 7-116506074-G-A | not specified | Uncertain significance (Sep 26, 2022) | ||
| 7-116506084-G-A | not specified | Uncertain significance (Feb 21, 2024) | ||
| 7-116506102-T-C | not specified | Uncertain significance (Jan 23, 2024) | ||
| 7-116506104-C-A | not specified | Uncertain significance (May 28, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CAV2 | protein_coding | protein_coding | ENST00000222693 | 3 | 221162 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0270 | 0.806 | 125734 | 0 | 14 | 125748 | 0.0000557 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.0450 | 89 | 90.2 | 0.987 | 0.00000422 | 1067 |
| Missense in Polyphen | 35 | 32.114 | 1.0899 | 406 | ||
| Synonymous | 0.145 | 36 | 37.1 | 0.970 | 0.00000177 | 310 |
| Loss of Function | 1.05 | 3 | 5.70 | 0.527 | 2.42e-7 | 65 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000615 | 0.0000615 |
| Ashkenazi Jewish | 0.000497 | 0.000496 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000550 | 0.0000527 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (By similarity). {ECO:0000250, ECO:0000269|PubMed:15504032, ECO:0000269|PubMed:18081315}.;
- Pathway
- Focal adhesion - Homo sapiens (human);Endocytosis - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Integrin-mediated Cell Adhesion;Focal Adhesion;Splicing factor NOVA regulated synaptic proteins;EGF-EGFR Signaling Pathway;EGFR1;Syndecan-2-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.293
Intolerance Scores
- loftool
- 0.228
- rvis_EVS
- 0.01
- rvis_percentile_EVS
- 54.95
Haploinsufficiency Scores
- pHI
- 0.129
- hipred
- Y
- hipred_score
- 0.600
- ghis
- 0.576
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.722
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cav2
- Phenotype
- neoplasm; 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); respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- negative regulation of endothelial cell proliferation;positive regulation of endothelial cell proliferation;vesicle fusion;mitochondrion organization;endoplasmic reticulum organization;regulation of mitotic nuclear division;insulin receptor signaling pathway;vesicle organization;receptor-mediated endocytosis of virus by host cell;cell differentiation;negative regulation of transforming growth factor beta receptor signaling pathway;positive regulation of MAPK cascade;positive regulation of GTPase activity;positive regulation by host of viral release from host cell;positive regulation by host of viral process;vesicle docking;skeletal muscle fiber development;protein complex oligomerization;positive regulation of dopamine receptor signaling pathway;caveola assembly
- Cellular component
- Golgi membrane;acrosomal membrane;nucleus;cytoplasm;Golgi apparatus;plasma membrane;integral component of plasma membrane;caveola;focal adhesion;transport vesicle;extrinsic component of cytoplasmic side of plasma membrane;cytoplasmic vesicle;protein-containing complex;sarcolemma;membrane raft;perinuclear region of cytoplasm
- Molecular function
- structural molecule activity;protein binding;protein kinase binding;protein binding, bridging;protein-containing complex scaffold activity;protein homodimerization activity;protein heterodimerization activity;scaffold protein binding