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Aliases for CAVIN4 Gene

Aliases for CAVIN4 Gene

  • Caveolae Associated Protein 4 2 3 5
  • Muscle-Restricted Coiled-Coil Protein 2 3 4
  • Muscle Related Coiled-Coil Protein 2 3
  • Muscle-Related Coiled-Coil Protein 2 4
  • MURC 3 4
  • Caveolae-Associated Protein 4 3
  • Cavin-4 3

External Ids for CAVIN4 Gene

Previous HGNC Symbols for CAVIN4 Gene

  • MURC

Summaries for CAVIN4 Gene

Entrez Gene Summary for CAVIN4 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]

GeneCards Summary for CAVIN4 Gene

CAVIN4 (Caveolae Associated Protein 4) is a Protein Coding gene. Diseases associated with CAVIN4 include Bejel and Yaws. An important paralog of this gene is CAVIN2.

UniProtKB/Swiss-Prot for CAVIN4 Gene

  • 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).

Additional gene information for CAVIN4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAVIN4 Gene

Genomics for CAVIN4 Gene

GeneHancer (GH) Regulatory Elements for CAVIN4 Gene

Promoters and enhancers for CAVIN4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J100577 Promoter/Enhancer 0.8 EPDnew ENCODE 673 +3.7 3729 6 ZNF24 CAVIN4 RN7SKP87 GC09M100582 TMEFF1 MSANTD3-TMEFF1
GH09J100574 Enhancer 0.2 ENCODE 673 -1.2 -1161 2.1 CAVIN4 TMEFF1 MSANTD3-TMEFF1
GH09J100600 Enhancer 0.9 Ensembl ENCODE 18.6 +24.4 24352 1.8 CTCF SAP130 RBPJ RAD21 TEAD3 RFXANK SMC3 ZFP91 ZNF143 ZNF444 CAVIN4 TMEFF1 INVS RN7SKP87 GC09M100582 PIR40273
GH09J100598 Enhancer 1 Ensembl ENCODE 11.4 +22.0 22011 1.4 RB1 ARID4B SIN3A ZNF48 YY1 ETS1 POLR2B ELK1 EGR1 SCRT2 CAVIN4 MSANTD3 GC09M100582 RN7SKP87 PIR40273
GH09J100586 Enhancer 0.5 ENCODE 22.4 +10.5 10488 1.3 SOX13 JUND SOX6 RARA CAVIN4 TMEFF1 MSANTD3-TMEFF1 MSANTD3 GC09M100582 RN7SKP87 PIR40273
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAVIN4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CAVIN4 Gene

Genomic Locations for CAVIN4 Gene
chr9:100,576,867-100,588,402
(GRCh38/hg38)
Size:
11,536 bases
Orientation:
Plus strand
chr9:103,340,336-103,350,188
(GRCh37/hg19)
Size:
9,853 bases
Orientation:
Plus strand

Genomic View for CAVIN4 Gene

Genes around CAVIN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAVIN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAVIN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAVIN4 Gene

Proteins for CAVIN4 Gene

  • Protein details for CAVIN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5BKX8-CAVN4_HUMAN
    Recommended name:
    Caveolae-associated protein 4
    Protein Accession:
    Q5BKX8
    Secondary Accessions:
    • B1PRL3
    • B4DT88

    Protein attributes for CAVIN4 Gene

    Size:
    364 amino acids
    Molecular mass:
    41899 Da
    Quaternary structure:
    • Component of the CAVIN complex composed of CAVIN1, CAVIN2, CAVIN3 and CAVIN4 (By similarity). Interacts with CAVIN1, ADRA1A and ADRA1B (PubMed:24567387). Interacts with CAVIN2; this augments the transactivation of NPPA (PubMed:18332105, PubMed:24567387). Interacts with CAV3 (PubMed:26497963, PubMed:24567387). Interacts with MAPK1 and MAPK3 (By similarity).
    SequenceCaution:
    • Sequence=AAH90888.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CAVIN4 Gene

Post-translational modifications for CAVIN4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAVIN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CAVIN4 Gene

Domains & Families for CAVIN4 Gene

Gene Families for CAVIN4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CAVIN4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CAVIN4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5BKX8

UniProtKB/Swiss-Prot:

CAVN4_HUMAN :
  • The coiled coil domain (residues 44-77) is essential for membrane-targeting in cardiomyocytes.
  • Belongs to the CAVIN family.
Domain:
  • The coiled coil domain (residues 44-77) is essential for membrane-targeting in cardiomyocytes.
Family:
  • Belongs to the CAVIN family.
genes like me logo Genes that share domains with CAVIN4: view

Function for CAVIN4 Gene

Molecular function for CAVIN4 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for CAVIN4 Gene

Gene Ontology (GO) - Molecular Function for CAVIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24567387
genes like me logo Genes that share ontologies with CAVIN4: view
genes like me logo Genes that share phenotypes with CAVIN4: view

Animal Models for CAVIN4 Gene

MGI Knock Outs for CAVIN4:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAVIN4 Gene

Localization for CAVIN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAVIN4 Gene

Cytoplasm, myofibril, sarcomere. Cytoplasm. Cytoplasm, cytosol. Cell membrane, sarcolemma. Membrane, caveola. Cell membrane. Note=In cardiomyocytes, accumulates in the Z-line of the sarcomere. In vascular smooth muscle cells, detected diffusely throughout the cytoplasm. Localizes in the caveolae in a caveolin-dependent manner. {ECO:0000250 UniProtKB:A2AMM0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAVIN4 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAVIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA,IEA 26497963
GO:0005901 caveola IDA,IEA 19525939
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CAVIN4: view

Pathways & Interactions for CAVIN4 Gene

SuperPathways for CAVIN4 Gene

No Data Available

Interacting Proteins for CAVIN4 Gene

Selected Interacting proteins: Q5BKX8-CAVN4_HUMAN for CAVIN4 Gene via IID

Gene Ontology (GO) - Biological Process for CAVIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0010468 regulation of gene expression IMP 21642240
genes like me logo Genes that share ontologies with CAVIN4: view

No data available for Pathways by source and SIGNOR curated interactions for CAVIN4 Gene

Drugs & Compounds for CAVIN4 Gene

(3) Drugs for CAVIN4 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
Uridine-5'-Diphosphate-N-Acetylmuramoyl-L-Alanine Experimental Pharma Target 0
genes like me logo Genes that share compounds with CAVIN4: view

Transcripts for CAVIN4 Gene

mRNA/cDNA for CAVIN4 Gene

(1) REFSEQ mRNAs :
(20) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAVIN4 Gene

No ASD Table

Relevant External Links for CAVIN4 Gene

GeneLoc Exon Structure for
CAVIN4
ECgene alternative splicing isoforms for
CAVIN4

Expression for CAVIN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CAVIN4 Gene:

CAVIN4

Evidence on tissue expression from TISSUES for CAVIN4 Gene

  • Muscle(4.7)
  • Heart(4.6)
genes like me logo Genes that share expression patterns with CAVIN4: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAVIN4 Gene

Orthologs for CAVIN4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CAVIN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MURC 34 33
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MURC 34 33
  • 89.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MURC 34 33
  • 88.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Murc 34 33
  • 81.95 (n)
OneToOne
Cavin4 16
rat
(Rattus norvegicus)
Mammalia Murc 33
  • 81.68 (n)
oppossum
(Monodelphis domestica)
Mammalia MURC 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MURC 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MURC 34 33
  • 69.7 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia murc 33
  • 63.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23948 33
zebrafish
(Danio rerio)
Actinopterygii murca 33
  • 58.23 (n)
murcb 34
  • 44 (a)
OneToMany
MURC (1 of 2) 34
  • 36 (a)
OneToMany
Species where no ortholog for CAVIN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CAVIN4 Gene

ENSEMBL:
Gene Tree for CAVIN4 (if available)
TreeFam:
Gene Tree for CAVIN4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAVIN4: view image

Paralogs for CAVIN4 Gene

Paralogs for CAVIN4 Gene

genes like me logo Genes that share paralogs with CAVIN4: view

Variants for CAVIN4 Gene

Sequence variations from dbSNP and Humsavar for CAVIN4 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs141589872 conflicting-interpretations-of-pathogenicity, not specified 100,578,200(+) G/A coding_sequence_variant, synonymous_variant
rs145794010 likely-benign, not specified 100,585,875(+) G/A/C coding_sequence_variant, synonymous_variant
rs149165620 likely-benign, not specified 100,578,386(+) T/G coding_sequence_variant, missense_variant
rs565406194 likely-benign, not specified 100,586,361(+) C/T coding_sequence_variant, synonymous_variant
rs778284038 likely-benign, not specified 100,586,295(+) G/A coding_sequence_variant, synonymous_variant

Variation tolerance for CAVIN4 Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAVIN4 Gene

Human Gene Mutation Database (HGMD)
CAVIN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAVIN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CAVIN4 Gene

Disorders for CAVIN4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CAVIN4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bejel
  • njovera
yaws
  • bouba
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CAVIN4

genes like me logo Genes that share disorders with CAVIN4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAVIN4 Gene

Publications for CAVIN4 Gene

  1. MURC, a muscle-restricted coiled-coil protein that modulates the Rho/ROCK pathway, induces cardiac dysfunction and conduction disturbance. (PMID: 18332105) Ogata T … Oh H (Molecular and cellular biology 2008) 2 3 4 58
  2. The coiled-coil domain of MURC/cavin-4 is involved in membrane trafficking of caveolin-3 in cardiomyocytes. (PMID: 26497963) Naito D … Ueyama T (American journal of physiology. Heart and circulatory physiology 2015) 3 4 58
  3. MURC/Cavin-4 facilitates recruitment of ERK to caveolae and concentric cardiac hypertrophy induced by α1-adrenergic receptors. (PMID: 24567387) Ogata T … Ueyama T (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  4. SDPR induces membrane curvature and functions in the formation of caveolae. (PMID: 19525939) Hansen CG … Nichols BJ (Nature cell biology 2009) 3 4 58
  5. MURC, a muscle-restricted coiled-coil protein, is involved in the regulation of skeletal myogenesis. (PMID: 18508909) Tagawa M … Oh H (American journal of physiology. Cell physiology 2008) 2 3 58

Products for CAVIN4 Gene

Sources for CAVIN4 Gene

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