Bioinformatics Database
COL1A2: Collagen type I alpha 2 chain
Cellular Process
Dentin formation
Gene Name
COL1A2: Collagen type I alpha 2 chain
Gene ID
1278
Gene Sequence
General 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.
Alternative titles; symbols
COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-2 CHAIN
Chromosome
Chromosome 7
Cytogenetic location
7q21.3
Encoded Protein
Collagen alpha-2(I) chain precursor
Function of the protein in oral and tooth development
COL1A2 codes for type I collagen, which is the major protein of intertubular dentin. In the proximal predentin, odontoblasts are responsible for the secretion of native type I collagen (Goldberg et al., 2012).
Dental and Oral Diseases
Osteogenesis Imperfecta, Type IV, With Dentinogenesis Imperfecta
(OMIM ID: 120160)
Protein Sequence
>NP_000080.2 collagen alpha-2(I) chain precursor [Homo sapiens]
MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTGPPGPPGPPGP
PGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGK
AGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTP
GQTGARGLPGERGRVGAPGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAG
PRGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGP
AGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP
GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPAGARGEPG
NIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGP
SGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEPGVVGAV
GTAGPSGPSGLPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAG
PAGPAGPRGSPGERGEVGPAGPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGP
PGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP
GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPG
AVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGE
TGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVGPA
GPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRAD
QPRSAPSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDA
IKVYCDFSTGETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL
ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIE
YKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK
Mutations
IVS21DS, G-A, +5: Nicholls et al. (1996) described a heterozygous deletion of the 108-bp exon 21 of COL1A2. Sequencing identified a G-to-A transition in the moderately conserved +5 position of the IVS21 5-prime consensus splice site, causing the skipping of exon 21. Nicholls et al. (1996) could demonstrate that the mutant pre-mRNA was alternatively spliced, yielding both full-length and deleted transcripts.
Related Literature
Nicholls et al., (1996): https://doi.org/10.1002/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5
Goldberg et al., (2011): https://doi.org/10.2741/e281