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Gene

CAV3

caveolin 3

Summary

Cytogenetic location
3p25.3
Coordinates
Chromosome 3: 8,733,802–8,746,758 (GRCh38)
Exons
2 exons across 13 kb
Protein
151 amino acids
Inheritance
Autosomal dominant
Also known as
VIP-21, LGMD1C, VIP21, LQT9
MANE Select transcript
ENST00000343849.3NM_033337.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Limb-Girdle Muscular Dystrophy

    • Caveolinopathy

      Muscle disorders caused by CAV3 variants, including the former limb-girdle muscular dystrophy type 1C, rippling muscle disease and raised creatine kinase levels.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
    • Rippling muscle disease 2Autosomal dominant

      A muscle disorder in which stretching or tapping the muscle triggers visible rippling movements and muscle mounding, often with stiffness and cramps.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CAV3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 3, with a bracket where CAV3 sits. CAV3 and 5 genes near it on chromosome 3, from 8,240,280 to 9,240,279.Chromosome 33p25.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q298.4 Mb8.6 Mb8.8 Mb9 Mb9.2 MbLMCD1: 8,501,587–8,574,668, forward strandLMCD1SSUH2: 8,619,386–8,745,040, reverse strandSSUH2CAV3: 8,733,802–8,746,758, forward strandCAV3OXTR: 8,750,381–8,769,628, reverse strandOXTRRAD18: 8,775,402–8,963,773, reverse strandRAD18SRGAP3: 8,980,591–9,363,053, reverse strandSRGAP3Diagram of CAV3: 2 exons on the forward strand of chromosome 3Exon 1: 7 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 1: 8,733,802–8,733,990, 189 basesExon 2: 8,745,526–8,746,758, 1,233 bases125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.4 kb of the gene's 13 kb; 456 of those bases code for the protein.

How a genome test reads CAV3

19

positions in CAV3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 13 kb of CAV3, introns included, not only the 1.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CAV3 gene: caveolin 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/cav3

Vancouver

Dante Labs. CAV3 gene: caveolin 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cav3

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