Official symbol | COL4A6 |
Gene id | 1288 |
Organism | Homo sapiens |
Official full symbol | collagen type IV alpha 6 chain |
Gene type | protein-coding |
Also known as | CXDELq22.3, DELXq22.3, DFNX6 |
Summary | This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. |
Genomic regions | Chromosome X |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
COL4A6-203 | ENST00000394872.6 | 6750 | 1707aa | Protein coding | CCDS76010 | A8MXH5 | - | TSL:5, GENCODE basic, APPRIS P1, |
COL4A6-201 | ENST00000334504.12 | 6685 | 1690aa | Protein coding | CCDS14542 | Q14031-2 | NM_033641.4 | TSL:5, GENCODE basic, MANE Select v0.92, |
COL4A6-210 | ENST00000621266.4 | 6627 | 1666aa | Protein coding | CCDS76009 | A0A087WZY5 | - | TSL:1, GENCODE basic, |
COL4A6-202 | ENST00000372216.8 | 6570 | 1691aa | Protein coding | CCDS14541 | Q14031-1 | - | TSL:1, GENCODE basic, |
COL4A6-208 | ENST00000538570.5 | 6528 | 1633aa | Protein coding | CCDS76008 | F5H3Q5 | - | TSL:1, GENCODE basic, |
COL4A6-209 | ENST00000545689.2 | 6380 | 1678aa | Protein coding | - | F5H851 | - | TSL:1, GENCODE basic, |
COL4A6-204 | ENST00000461897.5 | 1889 | No protein | Processed transcript | - | - | - | TSL:1, |
COL4A6-206 | ENST00000477085.1 | 1784 | No protein | Processed transcript | - | - | - | TSL:1, |
COL4A6-207 | ENST00000487645.1 | 812 | No protein | Processed transcript | - | - | - | TSL:3, |
COL4A6-205 | ENST00000468338.5 | 865 | No protein | Retained intron | - | - | - | TSL:5, |
Target Gene | COL4A6 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene COL4A6 had been KO in hela cell line. |
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