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FLASH GENE

Symbol

CELSR2

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

HGNC name	cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)
HGNC id	3231

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	25.74 kb     34 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D1S2778 - D1S2792 - CELSR2 - D1S2651 - D1S221 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001408 34 - 10540 NP_001399 - 2923 - -

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 Nervous brain       highly Reproductive female system uterus         female system breast         male system testis     highly Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine cadherin motifs
	six EGF-like motifs
	two laminin G domains (LamG)
	an hormone binding domain (HRM)
	a laminin EGF-like domain
	seven transmembrane segments
	a C terminal protein-rich sequence

HOMOLOGY

interspecies	ortholog to celsr2, Danio rerio
	ortholog to Celsr2, Rattus norvegicus
	ortholog to Celsr2, Mus musculus
	homolog to LOC457086, Pan troglodytes

intraspecies

homolog to EGFL1

Homologene

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

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	neuronal cell-cell interaction
	potential role in cholesterol metabolism and coronary risk
	control ability of facial branchiomotor neurons (FBM neurons) to migrate
	controls with Celsr3 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

	Knocking down rat Celsr2 results in prominent simplification of dendritic arbors of cortical pyramidal neurons and Purkinje neurons
	Celsr2 deficient mice fail to develop the ependymal cilia in the cerebral ventricles leading to defective cerebrospinal fluid dynamics and hydrocephalus
	Celsr2/Celsr3 double mutant mice display markedly impairment of ependyma and ciliogenesis leading to lethal hydrocephalus