Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1826
Gene name	DS cell adhesion molecule
Gene symbol	DSCAM
Synonyms (NCBI Gene)	CHD2CHD2-42CHD2-52
Chromosome	21
Chromosome location	21q22.2
Summary	This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A ge

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1369501286	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1419539530	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments
MIRT945648	hsa-miR-134	CLIP-seq
MIRT945649	hsa-miR-3118	CLIP-seq
MIRT945650	hsa-miR-3136-5p	CLIP-seq
MIRT945651	hsa-miR-331-3p	CLIP-seq
MIRT945652	hsa-miR-3679-3p	CLIP-seq
MIRT945653	hsa-miR-4326	CLIP-seq
MIRT945654	hsa-miR-4439	CLIP-seq
MIRT945655	hsa-miR-4446-5p	CLIP-seq
MIRT945656	hsa-miR-4513	CLIP-seq
MIRT945657	hsa-miR-4670-3p	CLIP-seq
MIRT945658	hsa-miR-4707-3p	CLIP-seq
MIRT945659	hsa-miR-4719	CLIP-seq
MIRT945660	hsa-miR-513b	CLIP-seq
MIRT1979926	hsa-miR-3065-5p	CLIP-seq
MIRT1979927	hsa-miR-4325	CLIP-seq
MIRT1979928	hsa-miR-4420	CLIP-seq
MIRT1979929	hsa-miR-4793-5p	CLIP-seq
MIRT1979927	hsa-miR-4325	CLIP-seq
MIRT2215201	hsa-miR-507	CLIP-seq
MIRT2215202	hsa-miR-557	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19196994, 32296183, 35914814
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	9426258
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9426258
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007162	Process	Negative regulation of cell adhesion	IEA
GO:0007162	Process	Negative regulation of cell adhesion	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9426258
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007416	Process	Synapse assembly	ISS
GO:0007417	Process	Central nervous system development	IBA
GO:0007626	Process	Locomotory behavior	IEA
GO:0010842	Process	Retina layer formation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9426258
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0038007	Process	Netrin-activated signaling pathway	IEA
GO:0042327	Process	Positive regulation of phosphorylation	IDA	19196994
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0048842	Process	Positive regulation of axon extension involved in axon guidance	IBA
GO:0048842	Process	Positive regulation of axon extension involved in axon guidance	IDA	18585357
GO:0048842	Process	Positive regulation of axon extension involved in axon guidance	IEA
GO:0060060	Process	Post-embryonic retina morphogenesis in camera-type eye	IEA
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	ISS
GO:0060996	Process	Dendritic spine development	IEA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0070593	Process	Dendrite self-avoidance	IEA
GO:0070593	Process	Dendrite self-avoidance	ISS
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA
GO:1990782	Function	Protein tyrosine kinase binding	IEA
GO:1990890	Function	Netrin receptor binding	IEA
GO:1990890	Function	Netrin receptor binding	IPI	22685302

MIM	HGNC	e!Ensembl
602523	3039	ENSG00000171587

O60469

Protein name

Cell adhesion molecule DSCAM (CHD2) (Down syndrome cell adhesion molecule)

Protein function

Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both is

PDB

6ZR7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	225 → 310	Immunoglobulin I-set domain	Domain
PF07679	I-set	314 → 401	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	406 → 488		Domain
PF07679	I-set	504 → 595	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	596 → 673		Domain
PF13927	Ig_3	689 → 770		Domain
PF07679	I-set	788 → 882	Immunoglobulin I-set domain	Domain
PF00041	fn3	886 → 972	Fibronectin type III domain	Domain
PF00041	fn3	986 → 1076	Fibronectin type III domain	Domain
PF00041	fn3	1090 → 1177	Fibronectin type III domain	Domain
PF00041	fn3	1190 → 1273	Fibronectin type III domain	Domain
PF07679	I-set	1287 → 1376	Immunoglobulin I-set domain	Domain
PF00041	fn3	1379 → 1463	Fibronectin type III domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Primarily expressed in brain.

Sequence

MWILALSLFQSFANVFSEDLHSSLYFVNASLQEVVFASTTGTLVPCPAAGIPPVTLRWYL
ATGEEIYDVPGIRHVHPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKA
VLREPYTVRVEDQKTMRGNVAVFKCIIPSSVEAYITVVSWEKDTVSLVSGSRFLITSTGA
LYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAPSILDGFDHRKAMAGQ
RVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYG
TAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNV
RITGINHENLIMDHMVKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSP
AEPVSLMCNVKGTPLPTITWTLDDDPILKGGSHRISQMITSEGNVVSYLNISSSQVRDGG
VYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHCRVIGYPYYSIKWYKN
SNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQ
PFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLS
LMHNGNYTCIARNEAAAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPT
IVWKFSKGAGVPQFQPIALNGRIQVLSNGSLLIKHVVEEDSGYYLCKVSNDVGADVSKSM
YLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKEDRIINPEMARYLVSTK
EVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKART
ITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRM
YAKNRIGKSEPSNELTITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGY
QIGYREYSTGGNFQFNIISVDTSGDSEVYTLDNLNKFTQYGLVVQACNRAGTGPSSQEII
TTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFRVIYWANLMDGELGEI
KNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAA
SASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVW
VVAVTSAGRGNSSEIITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWM
KDSNGTPSLVTIDGRRSIFSNGSFIIRTVKAEDSGYYSCIANNNWGSDEIILNLQVQVPP
DQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWGSFPISPSERSYRLEN
LKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWN
DGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQ
ANFATLNYDGSTIPPLIKSVVQNEEGLTTNEGLKMLVTISCILVGVLLLFVLLLVVRRRR
REQRLKRLRDAKSLAEMLMSKNTRTSDTLSKQQQTLRMHIDIPRAQLLIEERDTMETIDD
RSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDARPGTNPTTRRNAKAGP
TARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRAAGSVDKESDSYSVSPSQDTDRARSS
MVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTS
STPSESGICRFTASPPKPQDGGRVMNMAVPKAHRPGDLIHLPPYLRMDFLLNRGGPGTSR
DLSLGQACLEPQKSRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQREGAELG
QAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV

Sequence length

2012

Interactions

View interactions

	Reactome
			DSCAM interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aganglionic megacolon	Likely pathogenic	rs1419539530	RCV000736049
DSCAM-related disorder	Likely pathogenic	rs2516873033	RCV003983440
See cases	Likely pathogenic	rs2146568828	RCV001420314

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism	Conflicting classifications of pathogenicity	rs745374335	RCV004786932
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs577827734	RCV004560244
Esophageal atresia	Uncertain significance	rs1601280227	RCV000984737
Gastric cancer	Uncertain significance	rs1182107464	RCV005930855
Intellectual disability	Likely benign; Uncertain significance	rs755700184, rs267606133, rs748431627, rs201890626, rs201602690, rs2090334314, rs2090903586, rs2074447466, rs751623656	RCV000681511 RCV001251964 RCV001251967 RCV001251965 RCV001251963 RCV001251966 RCV001260665 RCV001260666 RCV001260881
Pyloric stenosis	Uncertain significance	rs1601280227	RCV000984737
Thyroid cancer, nonmedullary, 1	Likely benign	rs191369731	RCV005929287

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	27824329, 32807774
Autistic Disorder	Associate	26749308, 27824329
Bicuspid Aortic Valve Disease	Associate	39240962
Brain Diseases	Associate	33945512
Breast Neoplasms	Associate	32190687
Breast Neoplasms	Stimulate	33318294
Down Syndrome	Associate	10207158, 11280955, 23671607, 28648597, 33945512, 35301086
Heart Defects Congenital	Associate	11280955, 28648597
Heart Septal Defects Ventricular	Associate	11280955
Hirschsprung Disease	Associate	23671607, 30005639
Leukemia	Associate	21044360
Metabolic Syndrome	Associate	31170924
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	34373511
Scoliosis	Associate	34440387
Stress Disorders Post Traumatic	Associate	25867994
Tetralogy of Fallot	Associate	11280955
Triple Negative Breast Neoplasms	Associate	32190687

DSCAM (DS cell adhesion molecule)