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1292 COL6A2

1292

COL6A2

collagen type VI alpha 2 chain

protein-coding

Homo sapiens

基因描述

Type Description
Definition collagen type VI alpha 2 chain

研究结论

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

名称对应

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

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