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FLASH GENE

Symbol

LAMB2

contributors: mct - updated : 26-02-2011

HGNC name	laminin, beta 2 (laminin S)
HGNC id	6487

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCCNS microcoria-congenital nephrosis and myasthenic syndrome
Location	3p21.31      Physical location : 49.158.547 - 49.170.599
Synonym name	laminin S
	laminin B1s chain
	laminin subunit beta-2
Synonym symbol(s)	LAMS

DNA

TYPE	functioning gene
STRUCTURE	12.05 kb     32 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D3S4594 - LAMB2L - LAMB2 - QARS - DAG1 - cen
Authors	Durkin (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002292 32 - 5817 NP_002283 - 1798 - -

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 liver       lowly Endocrine thyroid       moderately Lymphoid/Immune spleen       moderately Nervous nerve cranial nerve     highly   spinal cord       moderately Reproductive female system uterus     highly Respiratory lung       moderately   respiratory tract trachea     moderately Urinary kidney nephron renal capsule glomerulus highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Connective bone     highly Lymphoid         Membrane basement       Muscular smooth ciliary muscle     Muscular smooth iris     Muscular striatum skeletal     Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	embryonic tissue at a moderately level

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	4 laminin A/neurexin/sex hormone-binding (LNS) globular domains separated by
	13 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 an cell alpha helical coiled-coil protein
	C-terminal region of beta chains is involved in laminin recognition by integrins and modulates the binding affinities of laminins toward X2-type integrins

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	homolog to rattus Lamb2 (88.04 pc)
	homolog to murine Lamb2 (88.42 pc)

intraspecies

homolog to LAMB1

Homologene

FAMILY

laminin family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	glomeruli, nerve fascicle perineurium, vascular, basement membrane of neuromuscular junction (matrix and synaptic cleft of the neuromuscular junction)

basic FUNCTION	mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
	playing a role in anchoring as well as differentiation of podocytes foot processes
	basement membrane protein laminin beta2, which is incorporated in specific heterotrimeric laminin isoforms
	essential component of the basement membrane

CELLULAR PROCESS	cell life, differentiation
	cell migration & motility

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	constituent of basement membrane zone
	heterotrimerizing with laminin alpha and laminin gamma subunits
	bêta subunit of laminin 3, laminin 4, laminin 7, laminin 11, laminin 13 and laminin 15

INTERACTION

DNA

RNA

small molecule

protein

binding directly to voltage-gated calcium channels

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCCNS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS