Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	347273
Gene name	Caveolae associated protein 4
Gene symbol	CAVIN4
Synonyms (NCBI Gene)	MURCcavin-4
Chromosome	9
Chromosome location	9q31.1
Summary	This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT608024	hsa-miR-8485	HITS-CLIP	22927820
MIRT608022	hsa-miR-329-3p	HITS-CLIP	22927820
MIRT608023	hsa-miR-362-3p	HITS-CLIP	22927820
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608021	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT677212	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT677211	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT677210	hsa-miR-4742-5p	HITS-CLIP	23824327
MIRT677209	hsa-miR-4269	HITS-CLIP	23824327
MIRT677208	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT677206	hsa-miR-4514	HITS-CLIP	23824327
MIRT677207	hsa-miR-4692	HITS-CLIP	23824327
MIRT677205	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT677204	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT677203	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT677202	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT677201	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT677200	hsa-miR-1281	HITS-CLIP	23824327
MIRT677199	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT677198	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT677197	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT677196	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT677195	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677194	hsa-miR-4284	HITS-CLIP	23824327
MIRT677193	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677192	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677191	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT677190	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608021	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608021	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608021	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608021	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	23824327
MIRT608022	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608023	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614407	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT608024	hsa-miR-8485	HITS-CLIP	24906430
MIRT608022	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT608023	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT608021	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT608024	hsa-miR-8485	HITS-CLIP	24906430
MIRT608022	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT608023	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT608021	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT608024	hsa-miR-8485	HITS-CLIP	24906430
MIRT608022	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT608023	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT608021	hsa-miR-377-3p	HITS-CLIP	24906430

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24567387, 26497963, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	26497963
GO:0005886	Component	Plasma membrane	IEA
GO:0005901	Component	Caveola	IBA
GO:0005901	Component	Caveola	IDA	19525939
GO:0005901	Component	Caveola	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010468	Process	Regulation of gene expression	IMP	21642240
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA

MIM	HGNC	e!Ensembl
617714	33742	ENSG00000170681

Q5BKX8

Protein name

Caveolae-associated protein 4 (Muscle-related coiled-coil protein) (Muscle-restricted coiled-coil protein)

Protein 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 re

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15237	PTRF_SDPR	27 → 264	PTRF/SDPR family	Family

Sequence

MEHNGSASNADKIHQNRLSSVTEDEDQDAALTIVTVLDKVASIVDSVQASQKRIEERHRE
MENAIKSVQIDLLKLSQSHSNTGHIINKLFEKTRKVSAHIKDVKARVEKQQIHVKKVEVK
QEEIMKKNKFRVVIFQEKFRCPTSLSVVKDRNLTENQEEDDDDIFDPPVDLSSDEEYYVE
ESRSARLRKSGKEHIDNIKKAFSKENMQKTRQNLDKKVNRIRTRIVTPERRERLRQSGER
LRQSGERLRQSGERFKKSISNAAPSKEAFKMRSLRKGKDRTVAEGEECAREMGVDIIARS
ESLGPISELYSDELSEPEHEAARPVYPPHEGREIPTPEPLKVTFKSQVKVEDDESLLLDL
KHSS

Sequence length

364

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAVIN4-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31364493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28594148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30951783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28594148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	GENOMICS_ENGLAND_DG	21642240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	31364493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	27546070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	23272181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19546242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26086601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	36522170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	26086601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rippling muscle disease 1	Rippling muscle disease	Pubtator	35696196, 36522170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CAVIN4 (caveolae associated protein 4)