Type | Description |
---|---|
Definition | collagen type VI alpha 2 chain |
Date | Results | Publications |
---|---|---|
2021-02-27 13:47:00 | Tendon Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. | 32053901 |
2020-12-05 12:59:00 | Proteomics Profiling Reveals Insulin-Like Growth Factor 1, Collagen Type VI alpha-2 Chain, and Fermitin Family Homolog 3 as Potential Biomarkers of Plaque Erosion in ST-Segment Elevated Myocardial Infarction. | 32350230 |
2018-02-24 11:44:00 | binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro. | 26944560 |
2017-03-04 12:40:00 | Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients. | 27563703 |
2015-09-12 10:05:00 | Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. | 25204870 |
Type | IDs |
---|---|
Synonymous | BTHLM1, PP3610, UCMD1 |
Gene |
UniProtKB-ID:
CO6A2_HUMAN,
A0A384MDP3_HUMAN
UniprotKB:
P12110,
A0A384MDP3
UniParc:
UPI00001AE969,
UPI00001AECE0,
UPI00001AEF74
EMBL:
X06195,
S75425,
S75440,
M34571,
S75432,
AY029208,
S75456,
S75430,
S75454,
S75450,
S75442,
BC065509,
X15977,
S75444,
S75438,
S75452,
S75428,
S75436,
S75458,
AL096746,
M34570,
S75448,
M34572,
M81835,
S75434,
S75462,
GQ891374,
S75460,
S75446,
M34573
Ensembl:
ENSG00000142173
KO:
hsa:1292
|
Nucleutide sequences |
EMBL-CDS:
AAA35619.1,
CAA29556.1,
AAA35620.1,
AAH65509.1,
AAB20836.1,
CAB46421.2,
AAA52056.2,
AAA35621.1,
AAA35618.1,
CAA34099.1,
ADO22236.1
Ensembl_TRS:
ENST00000409416,
ENST00000310645,
ENST00000300527,
ENST00000397763
|
Protein sequencees |
Ensembl_PRO:
ENSP00000380870,
ENSP00000312529,
ENSP00000387115,
ENSP00000300527
RefSeq:
NP_478055.2,
NP_478054.2,
XP_011527753.1,
NP_001840.3
|
Others |
UniRef100:
UniRef100_P12110
UniRef90:
UniRef90_P12110
UniRef50:
UniRef50_P12110
UniGene:
Hs.420269
CCDS:
CCDS13728.1,
CCDS13730.1,
CCDS13729.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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Refseq |
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