Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
347273
Gene name Gene Name - the full gene name approved by the HGNC.
Caveolae associated protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CAVIN4
Synonyms (NCBI Gene) Gene synonyms aliases
MURC, cavin-4
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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]
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24567387, 26497963, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol IEA
GO:0005886 Component Plasma membrane IDA 26497963
GO:0005901 Component Caveola IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617714 33742 ENSG00000170681
Protein
UniProt ID 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
Sequence length 364
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
21642240
Associations from Text Mining
Disease Name Relationship Type References
Cardiomyopathies Associate 28594148
Cardiomyopathy Dilated Associate 28594148
Muscular Dystrophy Facioscapulohumeral Associate 23272181
Neoplasms Associate 36522170
Paraneoplastic Syndromes Associate 36522170
Rippling muscle disease 1 Associate 35696196, 36522170
Thymoma Associate 36522170