LBR (lamin B receptor)

2011-04-01  

Identity

HGNC
LBR
LOCATION
1q42.12
LOCUSID
3930
ALIAS
C14SR,DHCR14B,LMN2R,PHA,PHASK,TDRD18
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
361246912023Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.5
364001642023Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.1
365988002023Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.2
361246912023Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.5
364001642023Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.1
365988002023Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.2
358835952022Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.10
358835952022Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads to Changes in Heterochromatin State and Senescence Induction in Malignant Melanoma.10
339585802021Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.10
341817352021Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.7
339585802021Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.10
341817352021Reduction of lamin B receptor levels by miR-340-5p disrupts chromatin, promotes cell senescence and enhances senolysis.7
318251722020Lamin B receptor plays a key role in cellular senescence induced by inhibition of the proteasome.2
319114402020Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally.11
321262372020The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP).11

Citation

Dessen P

LBR (lamin B receptor)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52162/js/lib/js/lib/zoomerang.js