| Type | Description |
|---|---|
| Definition | collagen type XII alpha 1 chain |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:28:00 | A novel mutation in the COL12A1 gene. | 33129849 |
| 2020-10-24 14:08:00 | Correlations Between the Genetic Variations in the COL1A1, COL5A1, COL12A1, and beta-fibrinogen Genes and Anterior Cruciate Ligament Injury in Chinese Patients(a). | 32239963 |
| 2020-09-12 16:01:00 | Dominant collagen XII mutations cause a distal myopathy. | 31509352 |
| 2020-06-13 11:40:00 | Results identified four pathogenic heterozygous in-frame exon skipping defects in COL12A1 and, one heterozygous arginine-to-cysteine substitution of unclear significance (p.(Arg1863Cys)) in patients with a mixed myopathy/Ehlers-Danlos syndrome spectrum. Variant-specific intracellular accumulation of collagen XII chains, and extracellular decrease of decorin and tenascin-X were observed for the COL12A1 variants. | 31273343 |
| 2020-02-08 11:27:00 | The results highlighted the importance of COL12A1 in gastric cancer (GC) and suggested its potential role as a candidate for clinical outcome prediction and targeted therapy in patients with GC. | 31432110 |
| Type | IDs |
|---|---|
| Synonymous | BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2 |
| Gene |
UniProtKB-ID:
COCA1_HUMAN
UniprotKB:
Q99715
UniParc:
UPI0000D60E7D,
UPI000045890B,
UPI00014F7AC9
EMBL:
U73778,
U68139,
AL080250,
AH004088,
AL096771,
AF061871,
U73779,
AL354664
Ensembl:
ENSG00000111799
KO:
hsa:1303
|
| Nucleutide sequences |
EMBL-CDS:
AAC01506.1,
AAB23937.2,
AAD40483.1,
AAC83578.1,
AAC51244.1
Ensembl_TRS:
ENST00000322507,
ENST00000416123,
ENST00000345356
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000325146,
ENSP00000305147,
ENSP00000412864
RefSeq:
XP_016865741.1,
XP_011533738.1,
XP_011533737.1,
XP_011533736.1,
NP_542376.2,
NP_004361.3
|
| Others |
UniRef100:
UniRef100_Q99715
UniRef90:
UniRef90_Q99715
UniRef50:
UniRef50_Q99715
UniGene:
Hs.101302
CCDS:
CCDS43481.1,
CCDS43482.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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