Official symbol | COL6A2 |
Gene id | 1292 |
Organism | Homo sapiens |
Official full symbol | collagen type VI alpha 2 chain |
Gene type | protein-coding |
Also known as | BTHLM1, PP3610, UCMD1 |
Summary | This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. |
Genomic regions | Chromosome 21 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
COL6A2-202 | ENST00000310645.9 | 3446 | 828aa | Protein coding | CCDS13730 | P12110-3 | - | TSL:5, GENCODE basic, |
COL6A2-201 | ENST00000300527.9 | 3445 | 1019aa | Protein coding | CCDS13728 | P12110-1 | NM_001849.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
COL6A2-204 | ENST00000409416.6 | 3367 | 828aa | Protein coding | CCDS13730 | P12110-3 | - | TSL:5, GENCODE basic, |
COL6A2-203 | ENST00000397763.5 | 3101 | 918aa | Protein coding | CCDS13729 | P12110-2 | - | TSL:5, GENCODE basic, |
COL6A2-206 | ENST00000436769.5 | 919 | 180aa | Protein coding | - | C9JH44 | - | CDS 3' incomplete, TSL:2, |
COL6A2-205 | ENST00000413758.1 | 750 | 250aa | Protein coding | - | H7C0M5 | - | CDS 5' and 3' incomplete, TSL:3, |
COL6A2-207 | ENST00000460886.1 | 306 | No protein | Processed transcript | - | - | - | TSL:2, |
COL6A2-208 | ENST00000485591.1 | 777 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | COL6A2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene COL6A2 had been KO in hek293t cell line. |
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