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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
COL1A2 1278 collagen, type I, alpha 2  7- 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
19401702   2009Cell line : -

Source : Irish caucasians patients

Sample Type : -

No. of Sample : -

Stage : TNM Stage I,II,IV

Fluorescence-activated cell sorting,Affymetrix oligonucleotide microarraysUp-regulation--


Gene Details



NC_000007.13 (94023873..94060544)

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Gene Type protein coding
Gene Family Collagens
Description 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]  
Chromosome 7
Location 7q21.3
Start 94023873  
End 94060544  
Strand +  
Gene Sequence

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Length 36672  
OMIM ID 120160   
HGNC ID HGNC:2198   
Unigene ID Hs.489142   
Ensembl ID ENSG00000164692   
PharmGKB ID PA35042   

mRNA Information


mRNA ID NM_000089.3
Exon join(1..541,3188..3198,3822..3836,4489..4524,5636..5728, 7007..7060,9996..10040,10133..10186,10279..10332, 10639..10692,11113..11166,11690..11743,13287..13331, 13623..13676,13776..13820,14210..14263,14762..14860, 15004..15048,15163..15261,15682..15735,15860..15967, 16329..16382,16496..16594,17508..17561,18024..18122, 18523..18576,19130..19183,19334..19387,19662..19715, 20666..20710,21845..21943,23164..23271,23939..23992, 24938..24991,25673..25726,25831..25884,25981..26088, 26449..26502,27339..27392,28397..28558,29776..29883, 30557..30664,31050..31103,31190..31297,31438..31491, 31863..31970,32448..32501,32628..32735,33067..33325, 33733..33917,34628..34870,35687..36672)  
mRNA Sequence

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Length 5411  



CDS Information


   
Location472..4572
CDS Sequence

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CCDS ID CCDS34682.1



Protein Information


      
Protein IDNP_000080.2
Protein Namecollagen, type I, alpha 2
Molecular Wt. (Da)127139
Protein Sequence

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Length 1366  
Uniprot IDQ9UQ80
Ensembl Protein ID ENSP00000302886  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
351APP100NP_000475.1in vitro7688497   
960CD44115NP_000601.3in vitro1730778   
6462SHBG1646NP_001031.2yeast 2-hybrid15862967   


Pathway Information


                                          
Pathway Name Pathway ID
AGE-RAGE signaling pathway in diabetic complications hsa04933
Amoebiasis hsa05146
ECM-receptor interaction hsa04512
Focal adhesion hsa04510
PI3K-Akt signaling pathway hsa04151
Platelet activation hsa04611
Protein digestion and absorption hsa04974


Structure Information


No matching records could be found.

Domain Information




ID Location Description
smart000381132-1366  COLFI
cl024361132-1366  COLFI superfamily
pfam014101149-1365  COLFI
pfam01391115-174  Collagen
cl22949115-174  Collagen superfamily
pfam01391469-528  Collagen
cl22949469-528  Collagen superfamily
pfam01391121-178  Collagen
pfam01391148-207  Collagen
cl22949148-207  Collagen superfamily
pfam01391163-222  Collagen
pfam01391436-497  Collagen
cl22949436-497  Collagen superfamily
pfam01391151-210  Collagen
pfam01391955-1013  Collagen
cl22949955-1013  Collagen superfamily
pfam01391961-1020  Collagen
pfam01391187-246  Collagen
cl22949187-246  Collagen superfamily
pfam01391982-1036  Collagen
pfam01391427-486  Collagen
pfam01391931-990  Collagen
pfam01391415-472  Collagen
pfam01391460-519  Collagen
pfam01391421-479  Collagen
pfam01391919-973  Collagen
cl22949919-973  Collagen superfamily
pfam01391412-464  Collagen
pfam01391442-500  Collagen
pfam01391913-972  Collagen
pfam01391976-1033  Collagen
pfam01391946-1003  Collagen
pfam01391199-252  Collagen
pfam01391970-1027  Collagen
pfam01391451-508  Collagen
pfam01391181-238  Collagen
pfam01391967-1024  Collagen
pfam01391940-998  Collagen
pfam01391106-157  Collagen
pfam01391580-649  Collagen
cl22949580-649  Collagen superfamily
pfam01391106-156  Collagen
pfam01391574-645  Collagen
pfam01391268-327  Collagen
cl22949268-327  Collagen superfamily
PRK07764954-1083  PRK07764
PHA03169404-540  PHA03169
PHA03169874-1015  PHA03169
PRK07764115-284  PRK07764
PRK07764473-649  PRK07764
PHA03169913-1061  PHA03169
PRK07764413-605  PRK07764


Ontology Information


   
HPRD ID1458
Molecular ClassExtracellular matrix protein
Molecular FunctionPeroxidase activity (GO:0004601)
Biological ProcessMetabolism (GO:0008152); Energy pathways (GO:0006091)  



SNP Information


View SNP Geneview Report   

Drug Information


Uniprot ID DrugBank ID Name Type
P08123DB00048Collagenase clostridium histolyticumBiotechDrug

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO