| Type | Description |
|---|---|
| Definition | collagen type XI alpha 2 chain |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:49:00 | Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population. | 32396528 |
| 2019-04-13 12:04:00 | Mutation in COL11A2 gene is associated with Stargardt disease as well as Stickler's Syndrome . | 30156925 |
| 2019-04-13 10:57:00 | rs986522(C) significantly increased the risk of lumbar disc degeneration in Chinese Han females. | 30548218 |
| 2018-09-08 11:36:00 | that the COL11A2 gene, which has previously been associated with familial osteoarthritis, may play a role in pain sensitization after the development of osteoarthritis | 28741447 |
| 2018-04-07 11:26:00 | Missense mutations in COL6A1, COL11A2, FGFR1, and BMP2 genetically predispose patients to ossification of posterior longitudinal ligaments. | 27246988 |
| Type | IDs |
|---|---|
| Synonymous | DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3 |
| Gene |
UniProtKB-ID:
COBA2_HUMAN,
A0A0C4DFS1_HUMAN,
H0YIS1_HUMAN,
Q4VXY6_HUMAN
UniprotKB:
P13942,
A0A0C4DFS1,
H0YIS1,
Q4VXY6
UniParc:
UPI000013CD48,
UPI0000D60E9B,
UPI0001AE71B1,
UPI0000E5AD7D,
UPI000022CB5D,
UPI0000D60E97,
UPI0000D60E98,
UPI0000D60E9C,
UPI00001A9CB3,
UPI0000D60E99,
UPI0000D60E9A,
UPI000013E9A5
EMBL:
KY500271,
KY500258,
AL662824,
BC053886,
U41069,
U41067,
J04974,
CR759733,
AL844527,
KY500260,
KY500272,
KY500261,
L18987,
U32169,
AL645940,
AL845446,
AL031228,
U41065,
CH471081,
U41066,
CR936877
Ensembl:
ENSG00000206290,
ENSG00000227801,
ENSG00000230930,
ENSG00000235708,
ENSG00000204248
KO:
hsa:1302
|
| Nucleutide sequences |
EMBL-CDS:
AAC50215.1,
AAA52034.1,
AAC17464.1,
AAC50213.1,
AAH53886.1,
AAA35498.1,
CAA20240.1,
AAC50214.1,
EAX03676.1,
AQY76748.1,
AQY76759.1,
AQY76746.1,
AQY76760.1,
AQY76749.1,
EAX03677.1,
EAX03678.1,
CAI95623.1
Gene_ORFName:
hCG_2039805,
hCG_2039805,
RP5-1033B10.5-001
Ensembl_TRS:
ENST00000452937,
ENST00000383087,
ENST00000447741,
ENST00000439039,
ENST00000383088,
ENST00000395194,
ENST00000551542,
ENST00000549811,
ENST00000341947,
ENST00000551758,
ENST00000550998,
ENST00000361917,
ENST00000549491,
ENST00000552473,
ENST00000383219,
ENST00000448717,
ENST00000447349,
ENST00000374708
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000410284,
ENSP00000449275,
ENSP00000400813,
ENSP00000372566,
ENSP00000378620,
ENSP00000372565,
ENSP00000447864,
ENSP00000406347,
ENSP00000447062,
ENSP00000339915,
ENSP00000446870,
ENSP00000450046,
ENSP00000450084,
ENSP00000355123,
ENSP00000372706,
ENSP00000388309,
ENSP00000408627,
ENSP00000363840
RefSeq:
XP_011512604.1,
XP_011512601.1,
NP_542411.2,
XP_011512602.1,
NP_542410.2,
XP_016865740.1,
XP_016865739.1,
NP_001157243.1,
NP_542412.2
|
| Others |
UniRef100:
UniRef100_A0A0C4DFS1,
UniRef100_H0YIS1,
UniRef100_P13942,
UniRef100_Q4VXY6
UniRef90:
UniRef90_P13942
UniRef50:
UniRef50_P13942
UniGene:
Hs.390171
CCDS:
CCDS43452.1,
CCDS54992.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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