Official symbol | NBN |
Gene id | 4683 |
Organism | Homo sapiens |
Official full symbol | nibrin |
Gene type | protein-coding |
Also known as | AT-V1, AT-V2, ATV, NBS, NBS1, P95 |
Summary | Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. |
Genomic regions | Chromosome 8 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
NBN-201 | ENST00000265433.8 | 4622 | 754aa | Protein coding | CCDS6249 | O60934 | NM_002485.5 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
NBN-203 | ENST00000409330.5 | 4523 | 672aa | Protein coding | CCDS43753 | A0A0C4DG07 | - | TSL:5, GENCODE basic, |
NBN-211 | ENST00000613033.1 | 786 | 124aa | Protein coding | - | A0A087X1V5 | - | CDS 5' incomplete, TSL:3, |
NBN-207 | ENST00000517772.5 | 701 | 164aa | Protein coding | - | E5RGR7 | - | CDS 3' incomplete, TSL:3, |
NBN-206 | ENST00000517337.1 | 565 | 92aa | Protein coding | - | E5RGN7 | - | CDS 3' incomplete, TSL:4, |
NBN-208 | ENST00000519426.5 | 535 | 159aa | Protein coding | - | E5RGU1 | - | CDS 3' incomplete, TSL:4, |
NBN-202 | ENST00000396252.6 | 4907 | 58aa | Nonsense mediated decay | - | E2QRP0 | - | TSL:5, |
NBN-210 | ENST00000523444.1 | 593 | 58aa | Nonsense mediated decay | - | E2QRP0 | - | TSL:4, |
NBN-205 | ENST00000494804.1 | 593 | No protein | Retained intron | - | - | - | TSL:3, |
NBN-204 | ENST00000474821.1 | 503 | No protein | Retained intron | - | - | - | TSL:2, |
NBN-209 | ENST00000520325.1 | 494 | No protein | Retained intron | - | - | - | TSL:5, |
Target Gene | NBN |
This KO Strategy | loading |
Red Cotton™ Notes | Gene NBN had been KO in hela cell line. |
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