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FLASH GENE

Symbol

DGCR6

contributors: npt - updated : 22-06-2005

HGNC name	DiGeorge syndrome critical region gene 6
HGNC id	2846

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q11.21      Physical location : 18.893.735 - 18.899.600
Synonym name	Drosophila gonadal(Gdl) homolog
Synonym symbol(s)	DGC6, GDL, GDLH

DNA

TYPE	functioning gene
STRUCTURE	5.00 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed DGCR6 5 - 1188 25 220 - -

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 Cardiovascular heart       highly Nervous brain       highly   spinal cord

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains

hydrophobic N-terminal stretch of amino acids at position 49-69

conjugated

PhosphoP

HOMOLOGY

interspecies

homolog to murine Dgcr6

intraspecies

homolog to GDL and LAMC1

Homologene

FAMILY

gonadal family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,nucleus
text	extracellular matrix

basic FUNCTION

maybe playing a role in neural crest cell migration into the third and fourth pharyngeal pouches

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

development

text	histogenesis, organogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with LMP1 (transactivation)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in B cell transformed by EBV constitutional         Di George syndrome

Susceptibility

to schizophrenia

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS