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FLASH GENE

Symbol

DOPEY2

contributors: mct - updated : 23-02-2015

HGNC name	dopey family member 2
HGNC id	1291

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q22.12      Physical location : 37.536.838 - 37.666.571
Synonym name	pad-1-like
	chromosome 21 open reading frame 5
Synonym symbol(s)	KIAA0933, C21orf5

DNA

TYPE	functioning gene
STRUCTURE	137.49 kb     37 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - CBR3 - D21S33 - DOPEY2 - MORC3 - qter
Authors	Guipponi (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005128 37 - 7689 NP_005119 - 2298 - 2000 10950924

EXPRESSION

Type	ubiquitous

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 liver           mouth tongue       Nervous brain forebrain cerebral cortex   highly   brain limbic system hippocampus       brain hindbrain cerebellum     Reproductive female system ovary         male system testis

tissue

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

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

embryo

Text	nervous system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	putative transmembrane domain
	C-terminus contains two highly conserved leucine-like zipper domains

HOMOLOGY

interspecies	homolog to C.elegans pad-1
	homolog to murine 2610510B01Rik
	homolog to C.elegans Y18D10A.13

Homologene

FAMILY

Dopey leucine zipper-like family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	may be playing a role in cell differentiation
	may be contributing to neurological alterations responsible for mental retardation in Down syndrome patients
	could play a role in brain morphogenesis
	plays a potential role in functional brain alterations and in the pathogenesis of mental retardation in Down syndrome

CELLULAR PROCESS	cell life, differentiation
	protein

PHYSIOLOGICAL PROCESS

development

text	embryogenesis and morphogenesis

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     --over   when overexpressed, it could participate in neurological features and mental retardation observed in DS patients

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS