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FLASH GENE

Symbol

PLXNB2

contributors: mct/npt - updated : 12-6-2009

HGNC name	plexin B2
HGNC id	9104

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q13.33      Physical location : 50.713.407 - 50.746.002
Synonym symbol(s)	MM1, KIAA0315, Nbla00445, PLEXB2, dJ402G11.3

DNA

TYPE	functioning gene
STRUCTURE	31.30 kb     37 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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 37 - 6369 isoform 1 - 1838 - Tamagnone (1999)

EXPRESSION

Type	ubiquitous

constitutive of

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 Nervous brain           nerve       highly Reproductive female system ovary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a SEMA homology domain
	three cysteine rich domains sharing homology with the scatter factor reception (MET family) MRS
	a single transmembrane segment (1TM)
	PDZ domains and a PDZ-binding motif found only in Plexins of the B family

HOMOLOGY

Homologene

FAMILY	calcium-dependent cell adhesion molecule family
	plexins of the B family

CATEGORY

receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	participate in axon guidance and cell migration in response to semaphorins
	receptors for multiple (and perhaps all) classes of semaphorins, either alone or in combination with neuropilins, and triggering a novel signal transduction pathway controlling cell repulsion
	key requirement in proliferation and migration of granule cell precursors in the developing dentate gyrus, olfactory bulb, and cerebellum (Deng 2007)
	critically modulates neuronal migration and patterning of the developing nervous system (Deng 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	receptor for the semaphorin 7A (SEMA7A)
	associates directly with two members of a recently identified family of Dbl homology/pleckstrin homology containing guanine nucleotide exchange factors for Rho, PDZ-RhoGEF, and Leukemia-associated Rho GEF (LARG)
	competes with ARHGAP35 for binding to RND3, thus blocking the RND3-mediated inhibition of RHOA and also recruits RhoGEFs to directly stimulate RHOA activity

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   dysregulated in brain tumors

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

plexin-B family members demonstrate non-redundant expression patterns in the developing mouse nervous system (Worzfeld 2004)