CAV2

caveolin 2, the group of Caveolins

Basic information

Region (hg38): 7:116287379-116508541

Links

ENSG00000105971 ∙ NCBI:858 ∙ OMIM:601048 ∙ HGNC:1528 ∙ Uniprot:P51636 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• amyotrophic lateral sclerosis (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAV2 gene.

• Inborn genetic diseases (8 variants)
• not provided (1 variants)

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			7	1	1	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	7	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)
7-116499905-C-T		not specified	Uncertain significance (Dec 02, 2022)
7-116500276-T-A		not specified	Uncertain significance (Oct 12, 2021)
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: gnomAD

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: dbNSFP

• 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