CAVIN4

caveolae associated protein 4, the group of Cavins

Basic information

Region (hg38): 9:100578078-100588389

Previous symbols: [ "MURC" ]

Links

ENSG00000170681 ∙ NCBI:347273 ∙ OMIM:617714 ∙ HGNC:33742 ∙ Uniprot:Q5BKX8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAVIN4 gene.

• not provided (56 variants)
• not specified (21 variants)
• Inborn genetic diseases (5 variants)
• Primary dilated cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAVIN4 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				14	2	16
missense			31	3	3	37
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel			1	2		3
splice donor/acceptor (+/-2bp)			1			1
splice region					1	1
non coding			1	6	5	12
Total	0	0	36	25	10

Variants in CAVIN4

This is a list of pathogenic ClinVar variants found in the CAVIN4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-100578087-G-A			Benign (Jun 18, 2018)
9-100578134-A-T		not specified	Uncertain significance (Dec 23, 2015)
9-100578154-A-G			Uncertain significance (May 18, 2018)
9-100578171-G-A			Uncertain significance (Jan 16, 2017)
9-100578192-C-T		not specified	Uncertain significance (Nov 21, 2023)
9-100578199-C-T		not specified	Uncertain significance (Jun 07, 2023)
9-100578200-G-A		not specified • CAVIN4-related disorder	Benign/Likely benign (Aug 26, 2020)
9-100578202-G-C		not specified	Uncertain significance (Feb 23, 2023)
9-100578214-A-T		not specified	Uncertain significance (May 30, 2023)
9-100578227-C-T		not specified	Likely benign (Sep 11, 2019)
9-100578228-G-A		not specified	Uncertain significance (Dec 13, 2023)
9-100578271-T-C		not specified	Uncertain significance (Sep 16, 2021)
9-100578281-T-G			Uncertain significance (Sep 15, 2022)
9-100578292-G-A			Uncertain significance (Oct 15, 2020)
9-100578304-T-C			Uncertain significance (Sep 06, 2017)
9-100578304-T-G			Uncertain significance (Jan 16, 2017)
9-100578311-G-C			Uncertain significance (Dec 15, 2020)
9-100578320-G-A			Likely benign (Feb 12, 2020)
9-100578345-G-A		not specified	Uncertain significance (Aug 12, 2022)
9-100578361-T-C		not specified	Uncertain significance (Jan 04, 2024)
9-100578376-C-T		not specified	Benign (Oct 20, 2016)
9-100578384-A-G		not specified	Uncertain significance (Nov 22, 2023)
9-100578386-T-G		not specified	Conflicting classifications of pathogenicity (Dec 13, 2021)
9-100578424-G-A		not specified	Uncertain significance (Dec 16, 2023)
9-100578433-G-A		not specified	Uncertain significance (May 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAVIN4	protein_coding	protein_coding	ENST00000307584	2	9828

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000505	0.685	125660	0	87	125747	0.000346

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.632	225	200	1.13	0.0000107	2416
Missense in Polyphen		87	75.34	1.1548		919
Synonymous	0.123	78	79.4	0.982	0.00000464	688
Loss of Function	0.930	8	11.4	0.703	6.53e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000822	0.000822
Ashkenazi Jewish	0.00	0.00
East Asian	0.000528	0.000489
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000298	0.000290
Middle Eastern	0.000528	0.000489
South Asian	0.000295	0.000294
Other	0.00108	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes (By similarity). Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway (PubMed:18332105). {ECO:0000250|UniProtKB:A2AMM0, ECO:0000269|PubMed:18332105}.

Intolerance Scores

• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.06

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.197
• ghis: 0.524

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cavin4
• Phenotype: homeostasis/metabolism phenotype; 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)

Zebrafish Information Network

• Gene name: cavin4b
• Affected structure: skeletal muscle cell
• Phenotype tag: abnormal
• Phenotype quality: irregularly shaped

Gene ontology

• Biological process: muscle organ development;regulation of gene expression;cell differentiation;regulation of Rho protein signal transduction;positive regulation of transcription by RNA polymerase II
• Cellular component: cytoplasm;cytosol;plasma membrane;caveola;Z disc;sarcolemma
• Molecular function: protein binding