| Type | Description |
|---|---|
| Definition | collagen type I alpha 2 chain |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:41:00 | A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing. | 31853946 |
| 2021-02-06 13:49:00 | Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. | 31876392 |
| 2021-01-16 16:00:00 | Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. | 32091183 |
| 2021-01-16 15:54:00 | Elucidation of proteostasis defects caused by osteogenesis imperfecta mutations in the collagen-alpha2(I) C-propeptide domain. | 32482890 |
| 2021-01-02 12:49:00 | A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2. | 32081708 |
| Type | IDs |
|---|---|
| Synonymous | EDSARTH2, EDSCV, OI4 |
| Gene |
UniProtKB-ID:
CO1A2_HUMAN,
A0A0S2Z3H5_HUMAN
UniprotKB:
P08123,
A0A0S2Z3H5
UniParc:
UPI00003B0CFC
EMBL:
M21671,
Z74616,
M28985,
AB004317,
S96821,
M22817,
AF004877,
S41099,
K01078,
J00114,
BC042586,
J03464,
M22816,
Y00724,
X02488,
M21353,
K02568,
V00503,
KU177988,
S98904,
L47668,
M35391,
BC054498,
X55525,
AC002528
Ensembl:
ENSG00000164692
KO:
hsa:1278
|
| Nucleutide sequences |
EMBL-CDS:
AAB22020.2,
CAA23761.1,
AAB59374.1,
CAA98969.1,
AAB22761.1,
CAA39142.1,
AAB69977.1,
AAA59994.1,
AAA52053.1,
CAA26320.1,
BAA25383.1,
AAA51850.1,
AAA60041.1,
AAB59577.1,
AAH54498.1,
CAA68709.1,
AAB93981.1,
AAA51846.1,
AAA60356.1,
AAA51996.1,
AAH42586.1,
AAA51887.1,
AAB22126.1,
AAA51844.1,
ALQ33446.1
Ensembl_TRS:
ENST00000297268
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000297268
RefSeq:
NP_000080.2
|
| Others |
UniRef100:
UniRef100_P08123
UniRef90:
UniRef90_P08123
UniRef50:
UniRef50_P08123
UniGene:
Hs.489142
CCDS:
CCDS34682.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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