||ORF Nucleotide Sequence (Length: 4101bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||collagen alpha-2(I) chain precursor
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from J03464.1, AA457209.1,
BC042586.1, CF125721.1, BC054498.1 and Z74616.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 16, 2004 this sequence version replaced gi:21536289.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
Transcript exon combination :: J03464.1, BC054498.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: full length.