Official symbol | FANCD2 |
Gene id | 2177 |
Organism | Homo sapiens |
Official full symbol | FA complementation group D2 |
Gene type | protein-coding |
Also known as | FA-D2, FA4, FACD, FAD, FAD2, FANCD |
Summary | The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 3 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
FANCD2-201 | ENST00000287647.7 | 5219 | 1471aa | Protein coding | CCDS2595 | Q9BXW9-1 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
FANCD2-202 | ENST00000419585.5 | 5185 | 1451aa | Protein coding | CCDS33696 | Q9BXW9-2 | - | TSL:1, GENCODE basic, APPRIS P4, |
FANCD2-213 | ENST00000675286.1 | 5096 | 1451aa | Protein coding | CCDS33696 | - | NM_001018115.3 | GENCODE basic, APPRIS ALT2, MANE Select v0.92, |
FANCD2-214 | ENST00000676013.1 | 4334 | 1414aa | Protein coding | - | - | - | CDS 3' incomplete, |
FANCD2-204 | ENST00000431693.1 | 2450 | 241aa | Protein coding | - | Q9BXW9-4 | - | TSL:1, GENCODE basic, |
FANCD2-212 | ENST00000625535.1 | 117 | 38aa | Protein coding | - | F8WE37 | - | TSL:5, GENCODE basic, |
FANCD2-203 | ENST00000421731.5 | 3425 | 749aa | Nonsense mediated decay | - | H7BZJ7 | - | CDS 5' incomplete, TSL:1, |
FANCD2-205 | ENST00000435522.5 | 567 | 38aa | Nonsense mediated decay | - | F8WE37 | - | TSL:4, |
FANCD2-206 | ENST00000438741.1 | 558 | No protein | Processed transcript | - | - | - | TSL:2, |
FANCD2-209 | ENST00000470757.5 | 547 | No protein | Processed transcript | - | - | - | TSL:2, |
FANCD2-211 | ENST00000483276.1 | 505 | No protein | Processed transcript | - | - | - | TSL:4, |
FANCD2-208 | ENST00000470028.1 | 449 | No protein | Processed transcript | - | - | - | TSL:5, |
FANCD2-210 | ENST00000480909.1 | 603 | No protein | Retained intron | - | - | - | TSL:2, |
FANCD2-207 | ENST00000464934.1 | 563 | No protein | Retained intron | - | - | - | TSL:4, |
Target Gene | FANCD2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene FANCD2 had been KO in hela cell line. |
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