The Chromosome 7 Annotation Project
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TCAG Gene Summary: COL1A2 [GA0052]

Gene / Transcript Structure
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General information
Class Known_Gene
TCAG Gene ID GA0052 [Old ID: HSC7000052]
Gene Symbol COL1A2 [HUGO ID: COL1A2]
Gene Name Collagen, type I, alpha 2
Synonyms OI4
Summary Summary: This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, 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 alpha-1 type I collagen since alpha-2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes.
Omim Collagen I, alpha-2 polypeptide | 120160
Phenotype Ehlers-Danlos syndrome, type VIIA2 [130060]
Marfan syndrome, atypical [120160]
Osteogenesis imperfecta, 3 clinical forms, 166200, 166210 [259420]
Osteoporosis, idiopathic [166710]
Gene Ontology ●Biological process
   Phosphate transport [GO:0006817]
●Cellular component
   Collagen [GO:0005581]
   Cytoplasm [GO:0005737]
●Molecular function
   Extracellular matrix structural constituent [GO:0005201]
Transcript COL1A2 | T00064 | J03464.1
External links
LocusLink 1278
RefSeq NM_000089 | NP_000080
GenBank AB004317 [genome]
AC002528 [genome]
AF004877 [genome]
K01078 [genome]
K02568 [genome]
M21353 [genome]
M21671 [genome]
M28985 [genome]
M35391 [genome]
M64229 [genome]
S98904 [genome]
AA457209 [mRNA]
AL833478 [mRNA]
BC042586 [mRNA]
BC054498 [mRNA]
CF125721 [mRNA]
J00114 [mRNA]
J03464 [mRNA]
M22816 [mRNA]
V00503 [mRNA]
X02488 [mRNA]
X55525 [mRNA]
Y00724 [mRNA]
Z74616 [mRNA]
PubMed 15077201, 14739420, 12968017, 12813128, 12759229, 12702564, 12477932, 12424255, 12393755, 12200454, 11986307, 11836364, 11668615, 11311202, 9016532, 8889548, 8841196, 8552450, 6687691, 6309769, 6267597, 6087329, 4011429, 3857213, 3680255, 3421913, 2897363, 2824475, 2777764, 2454224, 2394758, 2364107, 2129528, 1577745, 1409674, 1362870, 1358799, 1303238
ABI Gene Expression "Assays-on-Demand™" Hs00164099_m1
Affymetrix GeneChip U133A
U133B
U95A|32306_g_at
U95A|32307_s_at
U95A|32308_r_at
Transcript Sequence(s)
>T00064 Gene_ID:GA0052,Symbol:COL1A2,Class:Known_Gene,BaseSeq:J03464.1
GTGTCCCATAGTGTTTCCAAACTTGGAAAGGGCGGGGGAGGGCGGGAGGATGCGGAGGGCGGAGGTATGCAGACAACGAG
TCAGAGTTTCCCCTTGAAAGCCTCAAAAGTGTCCACGTCCTCAAAAAGAATGGAACCAATTTAAGAAGCCAGCCCCGTGG
CCACGTCCCTTCCCCCATTCGGGCCCTCCTCTGCGCCCCCGCAGGCTCCTCCCAGCTGTGGCTGCCCGGGCCCCCAGCCC
CAGCCCTCCCATTGGTGGAGGCCCTTTTGGAGGCACCCTAGGGCCAGGGAAACTTTTGCCGTATAAATAGGGCAGATCCG
GGATTTGTTATTTTAGCACCACGGCAGCAGGAGGTTTCGGCTAAGTTGGAGGTACTGGCCACGACTGCATGCCCGCGCCC
GCCATGTGATACCTCCGCCGGTGACCCAGGGCTCTGCGACACAAGGAGTCGCATGTCTAAGTGCTAGACATGCTCAGCTT
TGTGGATACGCGGACTTTGTTGCTGCTTGCAGTAACCTTATGCCTAGCAACATGCCAATCTTTACAAGAGGAAACTGTAA
GAAAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGGTCCACCAGGCCCCCCAGGCAGAGATGGTGAAGATGGT
CCCACAGGCCCTCCTGGTCCACCTGGTCCTCCTGGCCCCCCTGGTCTCGGTGGGAACTTTGCTGCTCAGTATGATGGAAA
AGGAGTTGGACTTGGCCCTGGACCAATGGGCTTAATGGGACCTAGAGGCCCACCTGGTGCAGCTGGAGCCCCAGGCCCTC
AAGGTTTCCAAGGACCTGCTGGTGAGCCTGGTGAACCTGGTCAAACTGGTCCTGCAGGTGCTCGTGGTCCAGCTGGCCCT
CCTGGCAAGGCTGGTGAAGATGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGC
TCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGGACACAATGGTCTGGATGGATTGAAGGGAC
AGCCCGGTGCTCCTGGTGTGAAGGGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACAGGAGCCCGTGGT
CTTCCTGGTGAGAGAGGACGTGTTGGTGCCCCTGGTCCAGCTGGTGCCCGTGGAAGTGATGGAAGTGTGGGTCCCGTAGG
TCCTGCTGGTCCTAATGGGTCTGCTGGCCCTCCAGGTTTCCCAGGTGCCCCTGGTCCCAAGGGTGAAATTGGAGCTGTTG
GTAACGCTGGTCCTACTGGACCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCT
GGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCC
TGGACCCCGCGGTATTCCTGGCCCTCCTGGTGCTGCCGGTACTACTGGTGCCAGAGGACTTGTTGGTGAGCCTGGTCCAG
CTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGGCTCCGCTGGTCCCCAAGGTCCTCCTGGTCCCAGTGGTGAA
GAAGGAAAGAGAGGCCCTAATGGGGAAGCTGGATCTGCCGGCCCTCCAGGACCTCCTGGGCTGAGAGGTAGTCCTGGTTC
TCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAG
TCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACCCAGAGGTCTTCCTGGTTCCCCTGGA
AATATCGGCCCCGCTGGAAAAGAAGGTCCTGTCGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCCGTTGG
AGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGGTGACCCTGGCAAAAACGGTGATAAAG
GTCATGCTGGTCTTGCTGGTGCTCGGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAG
GGTGTTCAAGGTGGAAAAGGTGAACAGGGTCCCGCTGGTCCTCCAGGCTTCCAGGGTCTGCCTGGCCCCTCAGGTCCCGC
TGGTGAAGTTGGCAAACCAGGAGAAAGGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGGGGAAC
GCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCT
GATGGAAACAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGGTCCTAGTGGACTCCCAGGAGA
GAGGGGTGCTGCTGGCATACCTGGAGGCAAGGGAGAAAAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCA
GAGATGGTGCTCGTGGTGCTCATGGTGCTGTAGGTGCCCCTGGTCCTGCTGGAGCCACAGGTGACCGGGGCGAAGCTGGG
GCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGGTGAACGTGGCGAGGTCGGTCCTGCTGGCCCCAACGG
ATTTGCTGGTCCGGCTGGTGCTGCTGGTCAACCGGGTGCTAAAGGAGAAAGAGGAGGCAAAGGGCCTAAGGGTGAAAACG
GTGTTGTTGGTCCCACAGGCCCCGTTGGAGCTGCTGGCCCAGCTGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGT
GGTGATGGAGGCCCCCCTGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGGTATTTC
TGGCCCTCCTGGTCCCCCTGGTCCTGCTGGGAAAGAAGGGCTTCGTGGTCCTCGTGGTGACCAAGGTCCAGTTGGCCGAA
CTGGAGAAGTAGGTGCAGTTGGTCCCCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGGACCT
CCTGGCACTCCAGGTCCTCAGGGTCTTCTTGGTGCTCCTGGTATTCTGGGTCTCCCTGGCTCGAGAGGTGAACGTGGTCT
ACCTGGTGTTGCTGGTGCTGTGGGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTG
CTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGGCAACCCTGGGAACGATGGTCCCCCAGGT
CGCGATGGTCAACCCGGACACAAGGGAGAGCGCGGTTACCCTGGCAATATTGGTCCCGTTGGTGCTGCAGGTGCACCTGG
TCCTCATGGCCCCGTGGGTCCTGCTGGCAAACATGGAAACCGTGGTGAAACTGGTCCTTCTGGTCCTGTTGGTCCTGCTG
GTGCTGTTGGCCCAAGAGGTCCTAGTGGCCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAAAGGGGCCCAGA
GGTCTTCCTGGCTTCAAGGGACACAATGGATTGCAAGGTCTGCCTGGTATCGCTGGTCACCATGGTGATCAAGGTGCTCC
TGGCTCCGTGGGTCCTGCTGGTCCTAGGGGCCCTGCTGGTCCTTCTGGCCCTGCTGGAAAAGATGGTCGCACTGGACATC
CTGGTACGGTTGGACCTGCTGGCATTCGAGGCCCTCAGGGTCACCAAGGCCCTGCTGGCCCCCCTGGTCCCCCTGGCCCT
CCTGGACCTCCAGGTGTAAGCGGTGGTGGTTATGACTTTGGTTACGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTC
AGCACCTTCTCTCAGACCCAAGGACTATGAAGTTGATGCTACTCTGAAGTCTCTCAACAACCAGATTGAGACCCTTCTTA
CTCCTGAAGGCTCTAGAAAGAACCCAGCTCGCACATGCCGTGACTTGAGACTCAGCCACCCAGAGTGGAGCAGCGGTTAC
TACTGGATTGACCCCAACCAAGGATGCACTATGGAAGCCATCAAAGTATACTGTGATTTCCCTACCGGCGAAACCTGTAT
CCGGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGTATAGGAGCTCCAAGGACAAGAAACACGTCTGGCTAGGAGAAA
CTATCAATGCTGGCAGCCAGTTTGAATATAATGTTGAAGGAGTGACTTCCAAGGAAATGGCTACCCAACTTGCCTTCATG
CGCCTGCTGGCCAACTATGCCTCTCAGAACATCACCTACCACTGCAAGAACAGCATTGCATACATGGATGAGGAGACTGG
CAACCTGAAAAAGGCTGTCATTCTACAGGGCTCTAATGATGTTGAACTTGTTGCTGAGGGCAACAGCAGGTTCACTTACA
CTGTTCTTGTAGATGGCTGCTCTAAAAAGACAAATGAATGGGGAAAGACAATCATTGAATACAAAACAAATAAGCCATCA
CGCCTGCCCTTCCTTGATATTGCACCTTTGGACATCGGTGGTGCTGACCATGAATTCTTTGTGGACATTGGCCCAGTCTG
TTTCAAATAAATGAACTCAATCTAAATTAAAAAAGAAAGAAATTTGAAAAAACTTTCTCTTTGCCATTTCTTCTTCTTCT
TTTTTAACTGAAAGCTGAATCCTTCCATTTCTTCTGCACATCTACTTGCTTAAATTGTGGGCAAAAGAGAAAAAGAAGGA
TTGATCAGAGCATTGTGCAATACAGTTTCATTAACTCCTTCCCCCGCTCCCCCAAAAATTTGAATTTTTTTTTCAACACT
CTTACACCTGTTATGGAAAATGTCAACCTTTGTAAGAAAACCAAAATAAAAATTGAAAAATAAAAACCATAAACATTTGC
ACCACTTGTGGCTTTTGAATATCTTCCACAGAGGGAAGTTTAAAACCCAAACTTCCAAAGGTTTAAACTACCTCAAAACA
CTTTCCCATGAGTGTGATCCACATTGTTAGGTGCTGACCTAGACAGAGATGAACTGAGGTCCTTGTTTTGTTTTGTTCAT
AATACAAAGGTGCTAATTAATAGTATTTCAGATACTTGAAGAATGTTGATGGTGCTAGAAGAATTTGAGAAGAAATACTC
CTGTATTGAGTTGTATCGTGTGGTGTATTTTTTAAAAAATTTGATTTAGCATTCATATTTTCCATCTTATTCCCAATTAA
AAGTATGCAGATTATTTGCCCAAAGTTGTCCTCTTCTTCAGATTCAGCATTTGTTCTTTGCCAGTCTCATTTTCATCTTC
TTCCATGGTTCCACAGAAGCTTTGTTTCTTGGGCAAGCAGAAAAATTAAATTGTACCTATTTTGTATATGTGAGATGTTT
AAATAAATTGTGAAAAAAATGAAATAAAGCATGTTTGGTTTTCCAAAAGAACATAT

Note: Some data originated from NCBI's LocusLink.