LMNB2 (lamin B2)

2014-11-01  

Identity

HGNC
LMNB2
LOCATION
19p13.3
LOCUSID
84823
ALIAS
EPM9,LAMB2,LMN2,MCPH27
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84823
MIM: 150341
HGNC: 6638
Ensembl: ENSG00000176619

Variants:

dbSNP: 84823
ClinVar: 84823
TCGA: ENSG00000176619
COSMIC: LMNB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176619ENST00000325327Q03252

Expression (GTEx)

0
50
100
150
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
ApoptosisKEGGko04210
ApoptosisKEGGhsa04210

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
165434172006A mitotic lamin B matrix induced by RanGTP required for spindle assembly.139
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168265302006Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.57
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
214005692011Laminopathies and lamin-associated signaling pathways.45
150240832004Modular structure of the human lamin B2 replicator.43
129129262003Localization of proteins bound to a replication origin of human DNA along the cell cycle.38
200042082010Characterization of the head-to-tail overlap complexes formed by human lamin A, B1 and B2 "half-minilamin" dimers.33
152842262004The stability of the nuclear lamina polymer changes with the composition of lamin subtypes according to their individual binding strengths.24
172902162007Functional interactions of DNA topoisomerases with a human replication origin.19

Citation

Dessen P

LMNB2 (lamin B2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/66141/lmnb2