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FLASH GENE

Symbol

LMNB2

contributors: mct/npt - updated : 04-05-2017

HGNC name	lamin B2
HGNC id	6638

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EPM9 epilepsy, progressive myoclonic, 9 LPPA lipodystrophy, partial, acquired
Location	19p13.3      Physical location : 2.428.164 - 2.456.958
Synonym symbol(s)	LAM2, LAMB2, LMN2, MGC2721

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation
text	a replication origin in the 3'utr
	head-to-tail orientation with the gene for the translocase of inner mitochondrial membrane 13 homolog gene
STRUCTURE	28.80 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D19S437 - D19S313 - CDC34 - D19S20 - BSG - D19S340 - D19S5373 - ELA2 ,D19S466 - GPX4 - POLR2E - D19S465 - RPS15 - D19S347 - AMH - OAZ1 - LMNB2 - ZNF57 - D19S591 - GNA11 ,D19S120 - GNA15 - D19S424 - D19S467 - cen
Authors	de Stanchina (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed LMNB2 12 - 4653 67.7 600 - Abdurashidova (2007)

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   moderately   salivary gland       highly Endocrine pancreas       lowly   thyroid       moderately Lymphoid/Immune lymph node       highly Nervous brain       lowly Reproductive male system prostate     moderately Respiratory lung       highly Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	eye, embryonic tissue, umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal head domain
	a central rod domain
	a nuclear localization signal (NLS)
	a C terminal tail with a CAAX doamin (a farnesyl group is attached to the cystein residue of the &
	8722;CAAX box by a farnesyltransferase)Dechat 2008)

mono polymer

homomer , heteromer , tetramer

HOMOLOGY

interspecies	homolog to rattus Lmnb2 (84.58 pc)
	homolog to murine Lmnb2 (83.53 pc)

Homologene

FAMILY

intermediate filament family, type V

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nuclear envelope,int
	intracellular,nuclear envelope,lamina

basic FUNCTION	involved in nuclear stability, chromatin structure and gene expression
	responsible of DNA replication origin
	LMNA, LMNB1, LMNB2 not only constitute a scaffold for nuclear shape, rigidity and resistance to stress but also contribute to the organization of chromatin and chromosomal domains
	LMNB2 interaction with MCM7 promotes non-small cell lung cancer (NSCLC) progression

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

coiled coil dimers associated to form a tetrameric subunit from which IFs assemble

INTERACTION

DNA

RNA

small molecule

protein	interacting with TOP1, TOP2A in a cell cycle-modulated manner
	lamin B2 binds to the C-terminus of MCM7, and competes with the binding of the tumor suppressor retinoblastoma (RB1) protein

cell & other

REGULATION

Other

diassembly at the start and reassembly at the end of mitosis mediated by phosphorylation,dephosphorylation

ASSOCIATED DISORDERS

corresponding disease(s)

LPPA , EPM9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in acquired partial lipodystrophy (Barraquer-Simons syndrome) constitutional germinal mutation       mutations will be identified in children with severe developmental brain disorders (Coffinier 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Lmnb2&
	8722;/&
	8722; mice had a smaller cerebellum with a complete absence of foliation, and the hippocampus was also abnormal (Coffinier 2010)