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FLASH GENE

Symbol

LAMC2

contributors: mct/npt - updated : 21-09-2015

HGNC name	laminin, gamma 2
HGNC id	6493

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBJ1A epidermolysis bullosa junctional, Herlitz type EBJ2A epidermolysis bullosa junctional, non-Herlitz type
Location	1q25.3      Physical location : 183.155.173 - 183.214.262
Synonym name	laminin 5, gamma chain 2
	laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))
	nicein-100kDa
	kalinin-105kDa
	BM600-100kDa
Synonym symbol(s)	LAMB2T, LAMNB2, EBR2, BM600, LMG2, A13C6, EBR2A, B2T

DNA

TYPE	functioning gene
STRUCTURE	59.08 kb     23 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	promoter contains several consensus ZEB1 binding sites, two of them—at -213 and -96—within our promoter reporter

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 23 splicing 5623 variant 1 131.1 1193 epithelia of all the embryonic tissues Kallunki (1992) a 21 amino acids signal peptide (2.3 kDa) a 23 exons variant containing exon 22b (shorter than 22a) representing the full length transcript variant variant 2 22 splicing 4522 variant 2 121.7 1111 embryonic cerebral cortex, lung and kidney Kallunki (1992) a 21 amino acids signal peptide (2.3 kDa) a 22 exons variant containing exon 22a (longerer than 22b) lacking exon 23

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 pharynx       predominantly Respiratory respiratory tract trachea     lowly   respiratory tract larynx     highly Skin/Tegument skin       moderately Urinary bladder       highly   kidney       lowly Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier lining retinal pigment epithelium (RPE)   lowly

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	epithelial cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 21 amino acids signal peptide (2.3 kDa)
	three laminin A/neurexin/sex hormone-binding (LNS) globular domains separated by multiple EGF-like motifs within N terminal truncated short arm
	a long arm composed of heptad repeats typical of a cell alpha helical coiled-coil protein

conjugated

GlycoP

mono polymer

heteromer , trimer

isoforms

Precursor

a 1172 amino acids mature peptide (128.8 kDa)

HOMOLOGY

interspecies	homolog to rattus Lamc2 (84.96 pc)
	homolog to murine Lamc2 (83.91 pc)

Homologene

FAMILY

intermediate filament family, type V

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	basement membrane

basic FUNCTION	mediating the attachment, migration and organization of cells into tissues during embryonic development
	plays an important role for tumour migration and shows an increased expression in areas of direct tumour/stroma interactions
	negatively regulates the integrin beta 4 phosphorylation, probably through a syndecan-1-mediated signaling, leading to enhanced cell adhesion and suppressed cell motility
	LAMB3, LAMC2, in conjunction with MMP7, play a key role in the progression of biliary tract cancer

CELLULAR PROCESS	cell life, proliferation/growth
	cell communication

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

signal transduction

a component

heterotrimerizing with laminin alpha 3 and beta 3 in laminin 5 (kalinein/nicein)

INTERACTION

DNA

RNA

small molecule

protein	binding heparin, nidogen 1 (NID), fibulin (FBLN1, FBLN2)
	RSK activation of translation factor EIF4B drives abnormal increases of LAMC2 and MYC protein during neoplastic progression to squamous cell carcinoma

cell & other

REGULATION

activated by

cleaved by BMP1,facilitating basement membrane assembly

Other

its expression was regulated by histone methylation as well as DNA methylation

ASSOCIATED DISORDERS

corresponding disease(s)

EBJ1A , EBJ2A

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   expressed in non small cell lung cancer (coexpression with LAMB3) tumoral     --over   of LAMB3 and LAMC2 by promoter demethylation in gastric cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	LAMC2 is a potential prognostic markers for pancreatic ductal adenocarcinoma (PDAC)
Therapy target
	System Type Disorder Pubmed cancer endocrine pancreas LAMC2 is a potential therapeutic targets for pancreatic ductal adenocarcinoma (PDAC)

ANIMAL & CELL MODELS