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FLASH GENE

Symbol

CAV2

contributors: mct/npt/shn - updated : 22-09-2011

HGNC name	caveolin 2
HGNC id	1528

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q31.2      Physical location : 116.139.443 - 116.148.594
Synonym name	caveolae protein, 20-kD
	caveolin 2 isoform a and b
	caveolin-2
Synonym symbol(s)	CAV, MGC12294

DNA

TYPE	functioning gene
STRUCTURE	9.15 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D7S2543 - D7S522 - CAV2 - D7S633 - D7S677 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001233 3 - 3332 18.2 162 . retina, ciliary muscle, trabecular meshwork, and Schlemm's canal . most abundantly expressed in endothelial cells, smooth muscle cells, skeletal myoblasts (L6, BC3H1, C2C12), fibroblasts, and 3T3-L1 cells differentiated to adipocytes (PMID:9361015) - 21321670 NM_198212 2 - 3144 12.6 112 - 1996 8552590

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Visual eye anterior segment cornea     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose white   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a stretch of eight amino-acids (FED-VIAEP)

mono polymer

heteromer

HOMOLOGY

interspecies	ortholog to Cav2, Mus musculus
	ortholog to Cav2, Rattus norvegicus
	ortholog to cav2, Danio rerio
	ortholog to CAV2, Pan troglodytes

Homologene

FAMILY

caveolin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
text	integral membrane protein

basic FUNCTION	involved in signal transduction, lipid metabolism, cellular growth control and apoptosis
	involved in caveolar biogenesis (
	play a role in the attenuation of the M1 muscarinic receptor intracellular trafficking to and from the plasma membrane (PM) (Shmuel 2007)
	possible involvement of serine 36-phosphorylated caveolin-2 in modulating mitosis (Sowa 2008)
	sequester fatty acids on the cytoplasmic leaflet of the plasma membrane, augment triglyceride formation and protect cells from lipotoxicity (Simard 2009)
	involved in the formation of caveolae which are specialized invaginations of the plasma membrane that are rich in cholesterol and other lipids, and they take part in transcytosis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	a principal component of caveolae membranes (

PATHWAY

metabolism

lipid/lipoprotein

signaling

lipid metabolism

a component	major component of the inner surface of caveolae, small invaginations of the plasma membrane
	colocalizing and forming a stable hetero-oligomeric complex with CAV1

INTERACTION

DNA

RNA

small molecule

protein	caveolin-1, CAV1 (
	flotillins 1 and 2 (
	Ras-GAP (
	human D1Rs, hD1Rs (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     with MET oncogene in gastric cancer tumoral     --over   in cell lines and in inflammatory breast cancer (Van den Eynden 2006)

Susceptibility

to primary open-angle glaucoma to type 2 diabetes subjects from Iceland mapped the first common genetic risk factor for POAG to a small region of the genome on chromosome 7q31 that contains the caveolin genes CAV2 (

Variant & Polymorphism SNP	rs4236601[A], associated with primary open-angle glaucoma
	rs2270188 interacts with dietary fat to affect risk of type 2 diabetes

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS