Official symbol | LBR |
Gene id | 3930 |
Organism | Homo sapiens |
Official full symbol | lamin B receptor |
Gene type | protein-coding |
Also known as | C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18 |
Summary | The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
LBR-202 | ENST00000338179.6 | 3812 | 615aa | Protein coding | CCDS1545 | Q14739 | - | TSL:5, GENCODE basic, APPRIS P1, |
LBR-201 | ENST00000272163.9 | 3748 | 615aa | Protein coding | CCDS1545 | Q14739 | NM_002296.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
LBR-205 | ENST00000425080.1 | 874 | 213aa | Protein coding | - | C9JXK0 | - | CDS 3' incomplete, TSL:3, |
LBR-203 | ENST00000421383.1 | 736 | 51aa | Protein coding | - | C9JES9 | - | CDS 3' incomplete, TSL:3, |
LBR-209 | ENST00000651341.1 | 2695 | 411aa | Nonsense mediated decay | - | A0A494C1L1 | - | - |
LBR-207 | ENST00000487054.1 | 731 | No protein | Processed transcript | - | - | - | TSL:3, |
LBR-208 | ENST00000488632.1 | 425 | No protein | Processed transcript | - | - | - | TSL:3, |
LBR-206 | ENST00000441022.1 | 536 | No protein | Retained intron | - | - | - | TSL:2, |
LBR-204 | ENST00000424022.2 | 478 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | LBR |
This KO Strategy | loading |
Red Cotton™ Notes | Gene LBR had been KO in hek293t cell line. |
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