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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
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 ORF Sequence $1500.00
KEGG
hsa05146Amoebiasis
hsa04151PI3K-Akt signaling pathway
hsa04510Focal adhesion
hsa04974Protein digestion and absorption
hsa04512ECM-receptor interaction
WikiPathways
WP306Focal Adhesion
WP453Inflammatory Response Pathway
Pathway Interaction Database
il4_2pathwayIL4-mediated signaling events
fra_pathwayValidated transcriptional targets of AP1 family members Fra1 and Fra2
lymphangiogenesis_pathwayVEGFR3 signaling in lymphatic endothelium
cmyb_pathwayC-MYB transcription factor network
smad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling
endothelinpathwayEndothelins
myc_represspathwayValidated targets of C-MYC transcriptional repression
Reactome
REACT_798Platelet activation, signaling and aggregation
REACT_13552Integrin cell surface interactions
REACT_1695GPVI-mediated activation cascade
REACT_118779Extracellular matrix organization
REACT_18312NCAM1 interactions
REACT_120729Collagen formation
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_604Hemostasis
REACT_16888Signaling by PDGF
REACT_111045Developmental Biology
REACT_18266Axon guidance
REACT_111102Signal Transduction
REACT_18334NCAM signaling for neurite out-growth
REACT_12051Cell surface interactions at the vascular wall
REACT_1230Platelet Adhesion to exposed collagen
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
GeneCards COL1A2
UniProt P08123
MIM 120160
Ensembl ENSG00000164692
HGNC 2198
HPRD 00363

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

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

Interactant



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