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Gene : CAV3 Homo sapiens

Name  ? caveolin 3 Cytological Location  3p25.3
Brief Description  caveolin 3
description  This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
  • synonyms:
  • CAV3,
  • AF043101,
  • M-caveolin,
  • RMD2,
  • LQT9,
  • VIP21,
  • OTTHUMG00000090519,
  • HGNC:1529,
  • VIP21,
  • VIP-21,
  • NM_033337,
  • MPDT,
  • VIP-21,
  • uc003brb.3,
  • LQT9,
  • LGMD1C,
  • LGMD1C
  • identifiers:
  • 859,
  • ENSG00000182533,
  • CAV3

Genome feature

Region: gene ? Length: 12966  
Location: 3:8733800-8746765 Cyto location: 3p25.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

5 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

78 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results