LBR (lamin B receptor)

2011-04-01  

Identity

HGNC
LOCATION
1q42.12
LOCUSID
ALIAS
C14SR,DHCR14B,LMN2R,PHA,PHASK,TDRD18
FUSION GENES

Other Information

Locus ID:

NCBI: 3930
MIM: 600024
HGNC: 6518
Ensembl: ENSG00000143815

Variants:

dbSNP: 3930
ClinVar: 3930
TCGA: ENSG00000143815
COSMIC: LBR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143815ENST00000272163Q14739
ENSG00000143815ENST00000338179Q14739
ENSG00000143815ENST00000421383C9JES9
ENSG00000143815ENST00000425080C9JXK0
ENSG00000143815ENST00000651341A0A494C1L1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
121182502002Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).83
126189592003Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.51
193318222009Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2.31
273367222016The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.25
242931082013The clinicopathological significance of lamin A/C, lamin B1 and lamin B receptor mRNA expression in human breast cancer.23
199400182010Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.20
217953902011Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor.18
147018332004Temporal association of protamine 1 with the inner nuclear membrane protein lamin B receptor during spermiogenesis.17
205766172010Requirement for lamin B receptor and its regulation by importin {beta} and phosphorylation in nuclear envelope assembly during mitotic exit.16

Citation

Dessen P

LBR (lamin B receptor)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52162/lbr