Entry - *601048 - CAVEOLIN 2; CAV2 - OMIM
 
* 601048

CAVEOLIN 2; CAV2


Alternative titles; symbols

CAVEOLAE PROTEIN, 20-KD


HGNC Approved Gene Symbol: CAV2

Cytogenetic location: 7q31.2     Genomic coordinates (GRCh38): 7:116,499,738-116,508,541 (from NCBI)


TEXT

Cloning and Expression

Scherer et al. (1996) identified a protein related to caveolin-1 (CAV1; 601047) through microsequencing of adipocyte-derived caveolin-enriched membranes. They called the novel protein caveolin-2. They stated that caveolins-1 and -2 are similar in most respects. For both caveolin-1 and caveolin-2, mRNAs are most abundantly expressed in white adipose tissue and are induced during adipocyte differentiation. Caveolin-2 localizes with caveolin-1, indicating that caveolin-2 also localizes to caveolae. However, caveolin-1 and caveolin-2 differ in their functional interactions with heterotrimeric G proteins, possibly explaining why caveolins 1 and 2 are coexpressed within a single cell. Specifically, Scherer et al. (1996) found that whereas residues 82 to 101 of murine caveolin-1 functionally suppressed the basal GTPase activity of purified heterotrimeric G proteins, the corresponding region of caveolin-2 (which is 30% identical) had a stimulatory effect.

Galbiati et al. (1998) demonstrated that caveolin-1 and -2 are expressed in neuronal cells. Caveolin-2 was upregulated in response to neuronal cell injury.


Gene Structure

Engelman et al. (1998) reviewed the molecular genetics of the caveolin gene family. They compared the genomic organization of the CAV1, CAV2, and CAV3 (601253) genes. The CAV1 gene contains 3 exons, while the human CAV2 gene contains 2 exons. The boundary of the last exon of CAV1 and CAV2 are analogous, suggesting that they arose through gene duplication. The genes encoding murine caveolin-1 and -2 are colocalized within the A2 region of mouse chromosome 6 (Engelman et al., 1998).


Mapping

By FISH, Engelman et al. (1998) mapped CAV1 and CAV2 to 7q31.1-q31.2. (CA)n microsatellite repeat marker analysis of the CAV genomic clones indicated that they contain the marker D7S522, located at 7q31.1. Thus, the 2 genes map to 7q31 in a region of conserved synteny with murine 6-A2 (Engelman et al. (1998, 1998)).


REFERENCES

  1. Engelman, J. A., Zhang, X., Galbiati, F., Volonte, D., Sotgia, F., Pestell, R. G., Minetti, C., Scherer, P. E., Okamoto, T., Lisanti, M. P. Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy. Am. J. Hum. Genet. 63: 1578-1587, 1998. [PubMed: 9837809, related citations] [Full Text]

  2. Engelman, J. A., Zhang, X. L., Galbiati, F., Lisanti, M. P. Chromosomal localization, genomic organization, and developmental expression of the murine caveolin gene family (Cav-1, -2, and -3): Cav-1 and Cav-2 genes map to a known tumor suppressor locus (6-A2/7q31). FEBS Lett. 429: 330-336, 1998. [PubMed: 9662443, related citations] [Full Text]

  3. Engelman, J. A., Zhang, X. L., Lisanti, M. P. Genes encoding human caveolin-1 and -2 are co-localized to the D7S522 locus (7q31.1), a known fragile site (FRA7G) that is frequently deleted in human cancers. FEBS Lett. 436: 403-410, 1998. [PubMed: 9801158, related citations] [Full Text]

  4. Galbiati, F., Volonte, D., Gil, O., Zanazzi, G., Salzer, J. L., Sargiacomo, M., Scherer, P. E., Engelman, J. A., Schlegel, A., Parenti, M., Okamoto, T., Lisanti, M. P. Expression of caveolin-1 and -2 in differentiating PC12 cells and dorsal root ganglion neurons: caveolin-2 is up-regulated in response to cell injury. Proc. Nat. Acad. Sci. 95: 10257-10262, 1998. [PubMed: 9707634, images, related citations] [Full Text]

  5. Scherer, P. E., Okamoto, T., Chun, M., Nishimoto, I., Lodish, H. F., Lisanti, M. P. Identification, sequence, and expression of caveolin-2 defines a caveolin gene family. Proc. Nat. Acad. Sci. 93: 131-135, 1996. [PubMed: 8552590, related citations] [Full Text]


Victor A. McKusick - updated : 9/30/1998
Mark H. Paalman - updated : 5/9/1996
Creation Date:
Victor A. McKusick : 2/7/1996
alopez : 03/30/2010
alopez : 9/14/2000
carol : 4/26/1999
carol : 4/23/1999
carol : 4/23/1999
terry : 9/30/1998
carol : 3/21/1998
alopez : 7/30/1997
mark : 7/8/1997
randy : 8/31/1996
mark : 5/9/1996
mark : 5/9/1996
mark : 5/9/1996
mark : 4/25/1996
mark : 4/24/1996
mark : 2/7/1996

* 601048

CAVEOLIN 2; CAV2


Alternative titles; symbols

CAVEOLAE PROTEIN, 20-KD


HGNC Approved Gene Symbol: CAV2

Cytogenetic location: 7q31.2     Genomic coordinates (GRCh38): 7:116,499,738-116,508,541 (from NCBI)


TEXT

Cloning and Expression

Scherer et al. (1996) identified a protein related to caveolin-1 (CAV1; 601047) through microsequencing of adipocyte-derived caveolin-enriched membranes. They called the novel protein caveolin-2. They stated that caveolins-1 and -2 are similar in most respects. For both caveolin-1 and caveolin-2, mRNAs are most abundantly expressed in white adipose tissue and are induced during adipocyte differentiation. Caveolin-2 localizes with caveolin-1, indicating that caveolin-2 also localizes to caveolae. However, caveolin-1 and caveolin-2 differ in their functional interactions with heterotrimeric G proteins, possibly explaining why caveolins 1 and 2 are coexpressed within a single cell. Specifically, Scherer et al. (1996) found that whereas residues 82 to 101 of murine caveolin-1 functionally suppressed the basal GTPase activity of purified heterotrimeric G proteins, the corresponding region of caveolin-2 (which is 30% identical) had a stimulatory effect.

Galbiati et al. (1998) demonstrated that caveolin-1 and -2 are expressed in neuronal cells. Caveolin-2 was upregulated in response to neuronal cell injury.


Gene Structure

Engelman et al. (1998) reviewed the molecular genetics of the caveolin gene family. They compared the genomic organization of the CAV1, CAV2, and CAV3 (601253) genes. The CAV1 gene contains 3 exons, while the human CAV2 gene contains 2 exons. The boundary of the last exon of CAV1 and CAV2 are analogous, suggesting that they arose through gene duplication. The genes encoding murine caveolin-1 and -2 are colocalized within the A2 region of mouse chromosome 6 (Engelman et al., 1998).


Mapping

By FISH, Engelman et al. (1998) mapped CAV1 and CAV2 to 7q31.1-q31.2. (CA)n microsatellite repeat marker analysis of the CAV genomic clones indicated that they contain the marker D7S522, located at 7q31.1. Thus, the 2 genes map to 7q31 in a region of conserved synteny with murine 6-A2 (Engelman et al. (1998, 1998)).


REFERENCES

  1. Engelman, J. A., Zhang, X., Galbiati, F., Volonte, D., Sotgia, F., Pestell, R. G., Minetti, C., Scherer, P. E., Okamoto, T., Lisanti, M. P. Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy. Am. J. Hum. Genet. 63: 1578-1587, 1998. [PubMed: 9837809] [Full Text: https://doi.org/10.1086/302172]

  2. Engelman, J. A., Zhang, X. L., Galbiati, F., Lisanti, M. P. Chromosomal localization, genomic organization, and developmental expression of the murine caveolin gene family (Cav-1, -2, and -3): Cav-1 and Cav-2 genes map to a known tumor suppressor locus (6-A2/7q31). FEBS Lett. 429: 330-336, 1998. [PubMed: 9662443] [Full Text: https://doi.org/10.1016/s0014-5793(98)00619-x]

  3. Engelman, J. A., Zhang, X. L., Lisanti, M. P. Genes encoding human caveolin-1 and -2 are co-localized to the D7S522 locus (7q31.1), a known fragile site (FRA7G) that is frequently deleted in human cancers. FEBS Lett. 436: 403-410, 1998. [PubMed: 9801158] [Full Text: https://doi.org/10.1016/s0014-5793(98)01134-x]

  4. Galbiati, F., Volonte, D., Gil, O., Zanazzi, G., Salzer, J. L., Sargiacomo, M., Scherer, P. E., Engelman, J. A., Schlegel, A., Parenti, M., Okamoto, T., Lisanti, M. P. Expression of caveolin-1 and -2 in differentiating PC12 cells and dorsal root ganglion neurons: caveolin-2 is up-regulated in response to cell injury. Proc. Nat. Acad. Sci. 95: 10257-10262, 1998. [PubMed: 9707634] [Full Text: https://doi.org/10.1073/pnas.95.17.10257]

  5. Scherer, P. E., Okamoto, T., Chun, M., Nishimoto, I., Lodish, H. F., Lisanti, M. P. Identification, sequence, and expression of caveolin-2 defines a caveolin gene family. Proc. Nat. Acad. Sci. 93: 131-135, 1996. [PubMed: 8552590] [Full Text: https://doi.org/10.1073/pnas.93.1.131]


Contributors:
Victor A. McKusick - updated : 9/30/1998
Mark H. Paalman - updated : 5/9/1996

Creation Date:
Victor A. McKusick : 2/7/1996

Edit History:
alopez : 03/30/2010
alopez : 9/14/2000
carol : 4/26/1999
carol : 4/23/1999
carol : 4/23/1999
terry : 9/30/1998
carol : 3/21/1998
alopez : 7/30/1997
mark : 7/8/1997
randy : 8/31/1996
mark : 5/9/1996
mark : 5/9/1996
mark : 5/9/1996
mark : 4/25/1996
mark : 4/24/1996
mark : 2/7/1996