| Type | Description |
|---|---|
| Definition | collagen type IX alpha 3 chain |
| Date | Results | Publications |
|---|---|---|
| 2020-08-13 09:32:00 | Homozygous type IX collagen variants, COL9A1, COL9A2, and COL9A3, causing recessive Stickler syndrome, expand the disease phenotype. | 31090205 |
| 2019-11-02 13:12:00 | we report the second family with autosomal recessive Stickler syndrome due to homozygosity for a loss-of-function mutation in COL9A3 and further establish the phenotype associated with mutations in this gene | 30450842 |
| 2019-02-02 12:08:00 | Study results suggest that the COL9A3 trp3 polymorphism might not be associated with intervertebral disk degeneration. [meta-analysis] | 30342505 |
| 2018-09-08 10:21:00 | rs61734651 variant in COL9A3 was not significantly associated with a predisposition to lumbar disc degeneration. | 29506578 |
| 2017-06-03 12:33:00 | In an Iranian population, we observed a 5.8-fold increase in the odds of degenerative disc disease in males when the Trp3 allele was present | 27798555 |
| Type | IDs |
|---|---|
| Synonymous | DJ885L7.4.1, EDM3, IDD, MED |
| Gene |
UniProtKB-ID:
CO9A3_HUMAN
UniprotKB:
Q14050
UniParc:
UPI0000126D51
EMBL:
AF026801,
AF026802,
AL035669,
L41162,
X91013,
BC011705
Ensembl:
ENSG00000092758
KO:
hsa:1299
|
| Nucleutide sequences |
EMBL-CDS:
AAD47357.1,
AAC41947.1,
AAH11705.1,
CAA62495.1
Ensembl_TRS:
ENST00000649368
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000496793
RefSeq:
XP_011526847.1,
NP_001844.3,
XP_016883155.1
|
| Others |
UniRef100:
UniRef100_Q14050
UniRef90:
UniRef90_Q14050
UniRef50:
UniRef50_Q14050
UniGene:
Hs.716639
CCDS:
CCDS13505.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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