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FLASH GENE

Symbol

CELSR3

contributors: mct/shn/pgu - updated : 19-09-2010

HGNC name	cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila)
HGNC id	3230

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	26.45 kb     35 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D3S3560 - D3S1581 - CELSR3 - D3S2384 - D3S3629 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001407 35 - 11974 NP_001398 - 3312 - -

EXPRESSION

Type

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 Digestive intestine large intestine colon     Reproductive female system breast       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine cadherin motifs (CA)
	seven transmembrane segments (7TM)
	six EGF-like motifs
	five Calsium-binding EGF-like domains
	two laminin G domains (LamG)
	a Laminin EGF-like domain
	an hormone binding domain (HRM)
	a GPCR proteolitic site (GPS)

HOMOLOGY

interspecies	ortholog to celsr3, danio rerio
	ortholog to Celsr3, Rattus norvegicus
	ortholog to Celsr3, Mus musculus
	ortholog to CELSR3, Pan troglodytes

intraspecies

homolog to EGFL2

Homologene

FAMILY	G-protein coupled receptor 2 family
	LN-TM7 subfamily
	Flamingo subfamily
	part of the cadherin superfamily

CATEGORY

unknown/unspecified , receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	receptor that may have an important role in cell/cell signaling during nervous system formation
	involved in contact-mediated communication
	crucial in axonal tract development
	mediates interactions between axons and guidepost cells govern axonal tract formation in mammals
	control ability of facial branchiomotor neurons (FBM neurons) to migrate
	controls with Celsr2 the development and the function of ependymal cilia in the epithelial lining of cerebral ventricles
	a key regulator of ciliogenesis in the ependyma

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice with inactivated Celsr3 gene display selective anomalies of several major axonal fascicles implicating protocadherins in axonal development
	null mutation of Celsr3 in mice leads to defective anterior commissure and internal capsule of the axonal tracts
	Celsr2/Celsr3 double mutant mice display markedly impairment of ependyma and ciliogenesis leading to lethal hydrocephalus