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FLASH GENE

Symbol

DGCR2

contributors: npt - updated : 24-04-2003

HGNC name	DiGeorge syndrome critical region gene 2
HGNC id	2845

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed DGCR2 10 - 4504 60 550 - -

EXPRESSION

Type

widely

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 Cardiovascular heart       predominantly Digestive liver       lowly Nervous brain       predominantly Respiratory lung       predominantly Urinary kidney       lowly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	kidney predominantly

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a ldl-receptor class a domain
	a c-type lectin family domain
	a vwfc domain

HOMOLOGY

interspecies

ortholog to murine Dgcr2

Homologene

FAMILY

CATEGORY

adhesion , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	type I membrane protein

basic FUNCTION	putative adhesion receptor protein which could play a role in neural crest cells migration (a process which has been proposed to be altered in DiGeorge syndrome)
	involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration

CELLULAR PROCESS

cell migration & motility

PHYSIOLOGICAL PROCESS

development

text	histogenesis and organogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in DiGeorge syndrome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS