NP_000384.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
144,910 Da
NCBI Official Full Name
collagen alpha-2(V) chain preproprotein
NCBI Official Synonym Full Names
collagen, type V, alpha 2
NCBI Official Synonym Symbols
NCBI Protein Information
collagen alpha-2(V) chain
UniProt Protein Name
Collagen alpha-2(V) chain
UniProt Entry Name
CO5A2_HUMAN
NCBI Summary for COL5A2
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
UniProt Comments for COL5A2
COL5A2: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue- specific matrices. Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 1 (EDS1); also known as Ehlers-Danlos syndrome gravis or severe classic type Ehlers-Danlos syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 2 (EDS2); also known as Ehlers-Danlos syndrome mitis or mild classic type Ehlers Danlos syndrome. Belongs to the fibrillar collagen family.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 2q14-q32
Cellular Component: extracellular matrix; collagen type V; endoplasmic reticulum lumen; extracellular region
Molecular Function: metal ion binding; extracellular matrix structural constituent; SMAD binding
Biological Process: skin development; extracellular matrix disassembly; axon guidance; collagen catabolic process; ossification; extracellular matrix organization and biogenesis; collagen fibril organization; skeletal development; eye morphogenesis
Disease: Ehlers-danlos Syndrome, Type I
Research Articles on COL5A2
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Products associated with COL5A2 sirna
Pathways associated with COL5A2 sirna
Diseases associated with COL5A2 sirna
Organs/Tissues associated with COL5A2 sirna
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