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FLASH GENE

Symbol

LAMA2

contributors: mct - updated : 10-03-2015

HGNC name	laminin, alpha 2
HGNC id	6482

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MDC1A muscular dystrophy, congenital merosin-deficient 1A
Location	6q22.33      Physical location : 129.204.285 - 129.837.708
Synonym name	merosin
	laminin M chain
	merosin heavy chain
	laminin-12 subunit alpha
	laminin-4 subunit alpha
	laminin-211 and -221
Synonym symbol(s)	LAMM

DNA

TYPE	functioning gene
STRUCTURE	633.42 kb     65 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D6S283 - D6S1712 - D6S1639 - D6S1702 - D6S1715- D6S407 - [D6S1620 ] - D6S1705 - D6S1572 - D6S262 - D6S457 - qter
Authors	Helbling-Leclerc (95)
Text	[LAMA2 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001079823 65 - 9696 NP_001073291 - 3118 - - 7535762 NM_000426 62 - 9708 NP_000417 - 3122 - - 7535762

EXPRESSION

Type

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 Endocrine adrenal gland       highly   neuroendocrine pituitary     highly Hearing/Equilibrium ear inner cochlea   predominantly Nervous nerve cranial nerve     highly Reproductive female system placenta     moderately   female system uterus     moderately Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     moderately Epithelial barrier lining retinal pigment epithelium (RPE)   lowly Muscular striatum cardiac   moderately Homo sapiens Muscular striatum skeletal   moderately Homo sapiens Nervous peripherous     moderately

cells

System Cell Pubmed Species Stage Rna symbol Digestive odontoblast Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	dental mesenchyme

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal region of the LAMA2 chain promotes laminin assembly and cell adhesion
	a 22 amino acids signal peptide (2.0 kDa)
	four laminin A/neurexin/sex hormone-binding (LNS) globular domains separated by
	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
	five globular domains, binding to integrins and/or dystroglycan in the C terminal region

mono polymer

heteromer , trimer

isoforms

Precursor

a 3100 amino acids mature peptide (341.9 kDa)

HOMOLOGY

interspecies	homolog to rattus Lama2 (88.39 pc)
	homolog to murine Lama2 (87.75 pc)

Homologene

FAMILY

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
text	constituent of cutaneous basement membrane (BM) zone
	localized in the BMs of muscle and neurons

basic FUNCTION	mediating the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
	playing an essential role for odontoblast differentiation and regulating the expression of dentin matrix proteins
	a role for CNS laminin is to promote the development of oligodendrocyte progenitors into myelin-forming oligodendrocytes via modulation of FYN regulatory molecules
	activates focal adhesion kinase (PTK2) on glomerular podocytes
	LAMA2-mediated PTK2 activation in podocytes is an important early event in Alport glomerular pathogenesis

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component	complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma
	LAMA2 is a subunit of laminin 2 (merosin), laminin 4 (S-merosin) and laminin 12

INTERACTION

DNA

RNA

small molecule

protein

binding to alpha dystroglycan, and coreceptor of mycobacterium leprae with alpha dystroglycan

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MDC1A

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function cytoplasmic XRCC6 in human LAMA2-deficient myotubes was both reduced in amount and more highly acetylated than in normal myotubes

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS