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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

Location	22q11.21      Physical location : 19.023.794 - 19.109.967
Synonym name	integral membrane protein, commonly deleted in DiGeorge syndrome (see BFAR, HIRA)
	integral membrane protein DGCR2/IDD
Synonym symbol(s)	IDD, LAN, KIAA0163, SEZ-12, DGSC, DKFZp686I1730

DNA

TYPE	functioning gene
STRUCTURE	86.00 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	repetitive sequence   other
text structure	80 SNP in the locus

MAPPING

cloned

Y

linked

N

status

provisional

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