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FLASH GENE

Symbol

LAMA4

contributors: mct/npt - updated : 07-01-2014

HGNC name	laminin, alpha 4
HGNC id	6484

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1JJ cardiomyopathy, dilated, 1JJ
Location	6q21      Physical location : 112.429.133 - 112.575.828
Synonym name	laminin-411 and -421
	Laminin-8 subunit alpha
	laminin-9 subunit alpha
	laminin-14 subunit alpha
Synonym symbol(s)	LAMA3, DKFZp686D23145

DNA

TYPE	functioning gene
STRUCTURE	146.79 kb     39 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - NT5E - DDR1 - D6S1041 - AIM1 - SIM1 - D6S246 - NR2E1 - CD24 - D6S273 - CCNC - AMD1 - D6S1499 - REV3L - D6S404 - D6S302 - FOXO3 - LAMA4 - MARCKS - PRDM1 - ROS1 - HDAC2 - GJA1 - LAMA2 - MYB - ESR - qter
Authors	Karayianni (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001105206 39 - 7287 NP_001098676 - 1823 - 2002 12445830 NM_001105209 2 - 712 NP_001098679 - 120 - 2002 12445830 NM_002290 39 - 7266 NP_002281 - 1816 - 2002 12445830 NM_001105207 39 - 7283 NP_001098677 - 1816 - 2002 12445830 NM_001105208 2 - 695 NP_001098678 - 120 - 2002 12445830

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 Cardiovascular heart       highly Homo sapiens   vessel       highly Homo sapiens Digestive intestine large intestine colon   highly Nervous nerve cranial nerve     highly Respiratory respiratory tract trachea     highly Skin/Tegument skin       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     predominantly Connective bone     moderately Epithelial barrier lining retinal pigment epithelium (RPE)   moderately Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, neonatal, pregnancy

Text	umbilical cord at an highly level

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four laminin A/neurexin/sex hormone-binding (LNS) globular domains
	multiple EGF-like motifs within the N terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain (VI)
	a long arm composed of heptad repeats typical of a cell alpha helical coiled-coil protein
	an integrin-interacting domain
	five laminin G-like globular domains,binding to integrins and/or dystroglycan in the C terminal region

conjugated

GlycoP

mono polymer

heteromer , monomer

HOMOLOGY

interspecies

homolog to murine Lama4 (88.75 pc)

Homologene

FAMILY

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
text	in the basement membranes (BMs)(major component)
	localized in vascular BMs

basic FUNCTION

major noncollagenous constituent of basement membranes, mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

constituent of cutaneous basement membrane zone, forming heteromeric molecule with a beta and a gamma chain

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1JJ

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         splicing variant with hexapeptide insertion in glioma and neuroblastoma constitutional germinal mutation       2 novel amino acid residue-altering mutations (2828C>T [Pro943Leu] and 3217C>T [Arg1073X]) in the integrin-interacting domain of the LAMA4 gene and 1 mutation (785C>T [Ala262Val]) in the ILK gene in dilated cardiomyopathy (Knoll 2007) tumoral     --over   in hepatocellular carcinomas, strongly correlated with tumor invasion, incomplete or no envelope and tumor bolt (Huang 2008)

Susceptibility

Variant & Polymorphism

Candidate gene	probably a novel supplementary marker for HCC diagnosis
Marker
Therapy target
	System Type Disorder Pubmed cancer     might be a molecular target in the future cancer therapy

ANIMAL & CELL MODELS

	mice lacking the presynaptic organizer Lama4 retained most of the synaptic cleft components but exhibited synaptic alterations reminiscent of those observed in aged animals
	reduced ability of immune cells to penetrate the vessel wall in mice deficient in Lama4