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FLASH GENE

Symbol

DSCAM

contributors: mct/npt/pgu - updated : 07-12-2013

HGNC name	Down syndrome cell adhesion molecule
HGNC id	3039

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q22.2      Physical location : 41.384.342 - 42.219.039
Synonym name	CHD2-52 down syndrome cell adhesion molecule
Synonym symbol(s)	CHD2-42, CHD2-52, CHD2

DNA

TYPE	functioning gene
STRUCTURE	834.70 kb     33 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - HMGN1 - D21S345 - [D21S347 - D21S15 - D21S348 - D21S23 - D21S231 - D21S349 ] - D21S350 - qter
Text	[DSCAM ]

regionally located

in the Down syndrome critical region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001389 33 splicing 7110 222.3 2012 type I membrane protein 1998 9426258 CHD2-52 CHD2-42 - splicing - - 1571 secreted 1998 9426258

EXPRESSION

Type	restricted

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 Lymphoid/Immune spleen         Nervous brain         Reproductive female system breast mammary gland

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	largely, in the developing nervous system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an extracellular component of nine tandemly repeated Ig-like C2-type domain,and
	a tenth located between the fourth and fifth copy of an array of six FBN-like domains (fibronectin type III-like domains)

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to murine Dscam
	homolog to Drosophila CG7060
	homolog to C.elegans T25C12.3

Homologene

FAMILY

immunoglobulin superfamily

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
text	transmembrane protein

basic FUNCTION	mediating cation-independent homophilic binding activity
	involved in nervous system development
	functioning as an axon guidance receptor regulating targeting and branching
	could act as a Netrin receptor, and also function in a pathway parallel to Netrins
	potentially having the ability to respond to multiple ligands and act as receptors for an unidentified midline attractive cue
	stimulating PAK1 phosphorylation and activity, and activating both JNK and p38 MAP kinases
	involved in netrin-induced phosphorylation of PAK1 and FYN
	required for axon guidance and dendrite arborization
	powerfully regulate the mosaic spacing of neurons in the retina, but not their synaptic specificity
	DSCAM and DSCAM-LIKE1 (DSCAML1) serve diverse neurodevelopmental functions, including axon guidance, synaptic adhesion, and self-avoidance
	plays a critical role in central respiratory regulation in a dosage-dependent manner
	cell adhesion molecule involved in dendrite morphology and neuronal wiring, and its expression pattern suggests a role in synaptic plasticity
	regulator of eye-specific segregation of retinogeniculate projections
	DSCAM dosage clearly regulates cell spacing and dendritic fasciculation in a specific class of retinal ganglion cells
	may function as a bifunctional guidance receptor involved in either attractive or repulsive signaling pathways
	functions as a repulsive netrin receptor, collaborating with UNC5C to mediate axon growth cone collapse

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	neurogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with SDK1 and SDK2 (direct lamina-specific synaptic connections in vertebrate retina)
	interacts with Netrin-1 (NTN1), a prototypical guidance cue for commissural axons (functions as a receptor of netrin-1)
	functions as a NTN1 receptor collaborating with DCC in NTN1 signaling
	NTN1 binds to DCC and DSCAM mediating axon attraction, and UNC5 mediating axon repulsion
	interacts with UNC5C and this interaction is stimulated by NTN1 in primary cortical neurons and postnatal cerebellar granule cells
	MAPK8 is important in the coordination of DCC and DSCAM in NTN1-mediated attractive signaling
	DCC cooperates with DSCAM through regulating JNK activity in NTN1 signaling
	combination of DSCAM with DCC or UNC5C plays an important role in NTN1-mediated axon attraction or repulsion
	TBCD physically interacts with the intracellular domain DSCAM, which is important for neural development and has been implicated in Down syndrome

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

potentially involved in congenital heart disease

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	retinal ganglion cells (RGCs)had fasciculated dendrites and clumped cell bodies in Dscam(-/-) mice, suggesting a role in self-avoidance
	in Dscam deficient mice, retinal ganglion cells have defects in neuronal spacing and dendritic arborization patterns exhibiting neuronal self-avoidance phenotypes