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Gene

CAV1

caveolin 1

Summary

Cytogenetic location
7q31.2
Coordinates
Chromosome 7: 116,525,036–116,561,179 (GRCh38)
Exons
3 exons across 36.1 kb
Protein
178 amino acids
Inheritance
Autosomal recessive
Previous symbols
CAV
MANE Select transcript
ENST00000341049.7NM_001753.5
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 reports relevant to this gene

  • Heritable Pulmonary Arterial Hypertension (HPAH)

    • Heritable Pulmonary Arterial Hypertension

      Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.

      • 1 GenCC submitter rates it definitive or strong

  • Lipodystrophy

    • Berardinelli-Seip Congenital LipodystrophyAutosomal recessive

      A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
    • Congenital Generalized LipodystrophyAutosomal recessive

      An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
    • Familial Partial Lipodystrophy

      Includes the LMNA (Dunnigan), PPARG, PLIN1, LIPE, AKT2, CAV1 and PLAAT3 forms, which cause loss of fat from the limbs and buttocks with insulin resistance, diabetes, high triglycerides and fatty liver.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing allows early screening and treatment of diabetes, triglycerides and liver disease, and in selected cases metreleptin.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CAV1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where CAV1 sits. CAV1 and 7 genes near it on chromosome 7, from 116,043,108 to 117,043,107.Chromosome 77q31.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3116.2 Mb116.4 Mb116.6 Mb116.8 Mb117 MbTFEC: 115,935,148–116,159,896, reverse strandTFECTES: 116,210,493–116,258,919, forward strandTESCAV2: 116,287,380–116,508,545, forward strandCAV2CAV1: 116,525,036–116,561,179, forward strandCAV1MET: 116,672,051–116,798,391, forward strandMETCAPZA2: 116,811,070–116,947,923, forward strandCAPZA2ST7: 116,952,980–117,230,812, forward strandST7: 116,954,391–117,119,719, forward strandDiagram of CAV1: 3 exons on the forward strand of chromosome 7Exon 2: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 1: 116,525,036–116,525,092, 57 basesExon 2: 116,526,525–116,526,689, 165 basesExon 3: 116,558,946–116,561,179, 2,234 bases1235′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 2.5 kb of the gene's 36.1 kb; 537 of those bases code for the protein.

How a genome test reads CAV1

5

positions in CAV1 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 36.1 kb of CAV1, introns included, not only the 2.5 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.). CAV1 gene: caveolin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cav1

Vancouver

Dante Labs. CAV1 gene: caveolin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cav1

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