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COL1A2 collagen, type I, alpha 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000089 Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

Related Services

Gene Symbol COL1A2
Entrez Gene ID 1278
Full Name collagen, type I, alpha 2
Synonyms OI4
General protein information
Preferred Names
collagen alpha-2(I) chain
Names
collagen alpha-2(I) chain
type I procollagen
alpha 2(I)-collagen
alpha-2 type I collagen
collagen I, alpha-2 polypeptide
collagen of skin, tendon and bone, alpha-2 chain
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

7

7q22.1

Summary This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008].
Disorder

MIM: 120160

Ehlers-Danlos syndrome, type VIIB, 130060 (3); Osteogenesis

mRNA Protein Product Sequence Price Select
NM_000089, 48762933 NP_000080, 48762934 collagen alpha-2(I) chain precursor ORF Sequence $1500.00
KEGG
hsa04510Focal adhesion
hsa04512ECM-receptor interaction
hsa05146Amoebiasis
hsa04974Protein digestion and absorption
hsa04151PI3K-Akt signaling pathway
hsa04611Platelet activation
WikiPathways
WP453Inflammatory Response Pathway
Pathway Interaction Database
smad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling
lymphangiogenesis_pathwayVEGFR3 signaling in lymphatic endothelium
endothelinpathwayEndothelins
il4_2pathwayIL4-mediated signaling events
cmyb_pathwayC-MYB transcription factor network
fra_pathwayValidated transcriptional targets of AP1 family members Fra1 and Fra2
myc_represspathwayValidated targets of C-MYC transcriptional repression
Reactome
REACT_118779Extracellular matrix organization
REACT_120729Collagen formation
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_163699Scavenging by Class A Receptors
REACT_150180Assembly of collagen fibrils and other multimeric structures
REACT_160300Binding and Uptake of Ligands by Scavenger Receptors
Homo sapiens (human)COL1A2NP_000080.2
Pan troglodytes (chimpanzee)COL1A2XP_001168894.1
Macaca mulatta (Rhesus monkey)COL1A2XP_001097831.1
Canis lupus familiaris (dog)COL1A2NP_001003187.1
Bos taurus (cattle)COL1A2NP_776945.1
Mus musculus (house mouse)Col1a2NP_031769.2
Rattus norvegicus (Norway rat)Col1a2NP_445808.1
Gallus gallus (chicken)COL1A2NP_001073182.2
Danio rerio (zebrafish)col1a2NP_892013.2
Xenopus (Silurana) tropicalis (western clawed frog)col1a2NP_001072718.1
Process
IDNameEvidence
GO:0001501skeletal system developmentIMP
GO:0001568blood vessel developmentIMP
GO:0007179transforming growth factor beta receptor signaling pathwayIDA
GO:0007266Rho protein signal transductionIDA
GO:0007596blood coagulationTAS
GO:0008217regulation of blood pressureIMP
GO:0022617extracellular matrix disassemblyTAS
GO:0030168platelet activationTAS
GO:0030198extracellular matrix organizationTAS
GO:0030199collagen fibril organizationIMP
GO:0030574collagen catabolic processTAS
GO:0042476odontogenesisNAS
GO:0043589skin morphogenesisIMP
GO:0050900leukocyte migrationTAS
GO:0070208protein heterotrimerizationIEA
GO:0071230cellular response to amino acid stimulusIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005584collagen type I trimerIDA
GO:0005584collagen type I trimerIMP
GO:0005584collagen type I trimerTAS
GO:0005615extracellular spaceIDA
GO:0005788endoplasmic reticulum lumenTAS
GO:0031012extracellular matrixIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005201extracellular matrix structural constituentNAS
GO:0005515protein bindingIPI
GO:0030674protein binding, bridgingIMP
GO:0042802identical protein bindingIDA
GO:0046332SMAD bindingIEA
GO:0046872metal ion bindingIEA
GO:0048407platelet-derived growth factor bindingIDA
GeneCards COL1A2
UniProt P08123
Vega OTTHUMG00000148675
MIM 120160
Ensembl ENSG00000164692
HGNC 2198
HPRD 00363

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the COL1A2 gene?

The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.

The COL1A2 gene produces a component of type I collagen called the pro-α2(I) chain. Collagens begin as procollagen molecules, which must be processed by enzymes outside the cell to remove extra protein segments from their ends. Each rope-like procollagen molecule is made up of three chains: two pro-α1(I) chains, which are produced from the COL1A1 gene, and one pro-α2(I) chain, which is produced from the COL1A2 gene.

After procollagens are processed, the resulting mature collagen molecules arrange themselves into long, thin fibrils. Individual collagen molecules are cross-linked to one another within these fibrils. The formation of cross-links results in very strong type I collagen fibrils, which are found in the spaces around cells.

Interactant

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