Official symbol | DDB2 |
Gene id | 1643 |
Organism | Homo sapiens |
Official full symbol | damage specific DNA binding protein 2 |
Gene type | protein-coding |
Also known as | DDBB, UV-DDB2, XPE |
Summary | This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. |
Genomic regions | Chromosome 11 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
DDB2-201 | ENST00000256996.9 | 1815 | 427aa | Protein coding | CCDS7927 | Q92466-1 | NM_000107.3 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
DDB2-202 | ENST00000378600.7 | 717 | 238aa | Protein coding | CCDS73284 | Q92466-2 | - | TSL:1, GENCODE basic, |
DDB2-204 | ENST00000378603.7 | 1092 | 363aa | Protein coding | - | Q92466-4 | - | TSL:1, GENCODE basic, |
DDB2-208 | ENST00000614825.4 | 852 | 227aa | Protein coding | - | A0A087X0X5 | - | CDS 3' incomplete, TSL:3, |
DDB2-215 | ENST00000622090.4 | 580 | 162aa | Protein coding | - | A0A087WW71 | - | CDS 3' incomplete, TSL:5, |
DDB2-216 | ENST00000622878.4 | 556 | 93aa | Protein coding | - | A0A087WV56 | - | CDS 3' incomplete, TSL:4, |
DDB2-213 | ENST00000617847.4 | 1649 | 95aa | Nonsense mediated decay | - | A0A087WYT8 | - | CDS 5' incomplete, TSL:5, |
DDB2-203 | ENST00000378601.7 | 1591 | 244aa | Nonsense mediated decay | - | Q92466-5 | - | TSL:2, |
DDB2-211 | ENST00000616278.4 | 960 | 156aa | Nonsense mediated decay | - | Q92466-3 | - | TSL:2, |
DDB2-205 | ENST00000610805.4 | 793 | 91aa | Nonsense mediated decay | - | A0A087WTQ7 | - | TSL:5, |
DDB2-214 | ENST00000620515.1 | 347 | No protein | Processed transcript | - | - | - | TSL:3, |
DDB2-206 | ENST00000612309.4 | 3101 | No protein | Retained intron | - | - | - | TSL:2, |
DDB2-212 | ENST00000617022.4 | 2181 | No protein | Retained intron | - | - | - | TSL:2, |
DDB2-207 | ENST00000614394.1 | 1088 | No protein | Retained intron | - | - | - | TSL:2, |
DDB2-210 | ENST00000615695.1 | 897 | No protein | Retained intron | - | - | - | TSL:2, |
DDB2-209 | ENST00000614884.1 | 660 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | DDB2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene DDB2 had been KO in hela cell line. |
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