1. Gene
  2. CAVIN4 - caveolae associated protein 4 Gene

CAVIN4 - caveolae associated protein 4 Gene

Homo sapiens

Also known as MURC; cavin-4

Gene ID: 347273 | Gene type: protein coding

About CAVIN4

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:100,576,867-100,588,389 (from NCBI)

This gene has 1 transcript (splice variant), 273 orthologues and 3 paralogues. Biased expression in heart (RPKM 18.1), prostate (RPKM 5.6) and 2 other tissues.

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]

CAVIN4 Products(1)

mRNA Protein Name
NM_001018116.2 NP_001018126.1 caveolae-associated protein 4
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
24567387 GOA
Biological Process GO Annotation Evidence Reference Source
involved in regulation of gene expression IMP
IMP: Inferred from mutant phenotype
21642240 GOA
Cellular Component GO Annotation Evidence Reference Source
located in caveola IDA
IDA: Inferred from direct assay
19525939 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
26497963 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAVIN4 Protein Structure

PTRF_SDPR

PTRF_SDPR: PTRF/SDPR family (27 - 264)

  • 0
  • 100
  • 200
  • 300
  • 364 a.a.
Protein Preferred Names Protein Names

caveolae-associated protein 4

muscle related coiled-coil protein

CAVIN4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CAVIN4 Q5BKX8 ZGPAT Homo sapiens Q8N5A5-2 32296183
Intra
CAVIN4 Q5BKX8 NTAQ1 Homo sapiens Q96HA8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Lipodystrophy, Congenital Generalized, Type 4

Congenital Generalized Lipodystrophy Type 4

CGL4

Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy

Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy

Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy

Generalized Congenital Lipodystrophy With Myopathy

Congenital Generalised Lipodystrophy Type 4

Generalised Congenital Lipodystrophy Type 4

Generalised Congenital Lipodystrophy With Myopathy

Generalized Congenital Lipodystrophy Type 4

Gcl4

Congenital Generalized Lipodystrophy 4

Berardinelli-Seip Congenital Lipodystrophy Type 4

Myopathy, Congenital, Bailey-Bloch

Native American Myopathy

Nam

MYPBB

Myopathy, Congenital, Baily-Bloch

Anti-Hmg-Coa Myopathy

Anti-Srp Myopathy

Autoimmune Necrotizing Myositis

Imnm

Immune Myopathy With Myocyte Necrosis

Immune-Mediated Necrotizing Myopathy

Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia

Necrotizing Autoimmune Myopathy

Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome

Congenital Myopathy With Cleft Palate And Malignant Hyperthermia

Alzheimer Disease 8

Ad8

Alzheimer'S Disease 8

Alzheimer Disease, Familial, 8

Alzheimer Disease, Familial 8

Alzheimer'S Disease 8, Late Onset

Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CAVIN4 RGD RGD:1310395
Mus musculus CAVIN4 MGD MGI:1915266
Canis familiaris CAVIN4 VGNC VGNC:38756
Felis catus CAVIN4 VGNC VGNC:102905
Bos taurus CAVIN4 VGNC VGNC:26805