• Gene id: 1826

Gene Summary

• Gene Symbol: DSCAM   Gene   UCSC   Ensembl
• Aliases: CHD2, CHD2-42, CHD2-52
• Gene name: DS cell adhesion molecule
• Alternate names: Down syndrome cell adhesion molecule,
• Gene location: 21q22.2 (40847157: 40010998)     Exons: 33     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 602523

Protein Summary

• Protein general information: O60469  
  • Name: Down syndrome cell adhesion molecule (CHD2)
  • Length: 2012  
  • Mass: 222260
  • Tissue specificity: Primarily expressed in brain.
• Sequence:

  MWILALSLFQSFANVFSEDLHSSLYFVNASLQEVVFASTTGTLVPCPAAGIPPVTLRWYLATGEEIYDVPGIRHV
  HPNGTLQIFPFPPSSFSTLIHDNTYYCTAENPSGKIRSQDVHIKAVLREPYTVRVEDQKTMRGNVAVFKCIIPSS
  VEAYITVVSWEKDTVSLVSGSRFLITSTGALYIKDVQNEDGLYNYRCITRHRYTGETRQSNSARLFVSDPANSAP
  SILDGFDHRKAMAGQRVELPCKALGHPEPDYRWLKDNMPLELSGRFQKTVTGLLIENIRPSDSGSYVCEVSNRYG
  TAKVIGRLYVKQPLKATISPRKVKSSVGSQVSLSCSVTGTEDQELSWYRNGEILNPGKNVRITGINHENLIMDHM
  VKSDGGAYQCFVRKDKLSAQDYVQVVLEDGTPKIISAFSEKVVSPAEPVSLMCNVKGTPLPTITWTLDDDPILKG
  GSHRISQMITSEGNVVSYLNISSSQVRDGGVYRCTANNSAGVVLYQARINVRGPASIRPMKNITAIAGRDTYIHC
  RVIGYPYYSIKWYKNSNLLPFNHRQVAFENNGTLKLSDVQKEVDEGEYTCNVLVQPQLSTSQSVHVTVKVPPFIQ
  PFEFPRFSIGQRVFIPCVVVSGDLPITITWQKDGRPIPGSLGVTIDNIDFTSSLRISNLSLMHNGNYTCIARNEA
  AAVEHQSQLIVRVPPKFVVQPRDQDGIYGKAVILNCSAEGYPVPTIVWKFSKGAGVPQFQPIALNGRIQVLSNGS
  LLIKHVVEEDSGYYLCKVSNDVGADVSKSMYLTVKIPAMITSYPNTTLATQGQKKEMSCTAHGEKPIIVRWEKED
  RIINPEMARYLVSTKEVGEEVISTLQILPTVREDSGFFSCHAINSYGEDRGIIQLTVQEPPDPPEIEIKDVKART
  ITLRWTMGFDGNSPITGYDIECKNKSDSWDSAQRTKDVSPQLNSATIIDIHPSSTYSIRMYAKNRIGKSEPSNEL
  TITADEAAPDGPPQEVHLEPISSQSIRVTWKAPKKHLQNGIIRGYQIGYREYSTGGNFQFNIISVDTSGDSEVYT
  LDNLNKFTQYGLVVQACNRAGTGPSSQEIITTTLEDVPSYPPENVQAIATSPESISISWSTLSKEALNGILQGFR
  VIYWANLMDGELGEIKNITTTQPSLELDGLEKYTNYSIQVLAFTRAGDGVRSEQIFTRTKEDVPGPPAGVKAAAA
  SASMVFVSWLPPLKLNGIIRKYTVFCSHPYPTVISEFEASPDSFSYRIPNLSRNRQYSVWVVAVTSAGRGNSSEI
  ITVEPLAKAPARILTFSGTVTTPWMKDIVLPCKAVGDPSPAVKWMKDSNGTPSLVTIDGRRSIFSNGSFIIRTVK
  AEDSGYYSCIANNNWGSDEIILNLQVQVPPDQPRLTVSKTTSSSITLSWLPGDNGGSSIRGYILQYSEDNSEQWG
  SFPISPSERSYRLENLKCGTWYKFTLTAQNGVGPGRISEIIEAKTLGKEPQFSKEQELFASINTTRVRLNLIGWN
  DGGCPITSFTLEYRPFGTTVWTTAQRTSLSKSYILYDLQEATWYELQMRVCNSAGCAEKQANFATLNYDGSTIPP
  LIKSVVQNEEGLTTNEGLKMLVTISCILVGVLLLFVLLLVVRRRRREQRLKRLRDAKSLAEMLMSKNTRTSDTLS
  KQQQTLRMHIDIPRAQLLIEERDTMETIDDRSTVLLTDADFGEAAKQKSLTVTHTVHYQSVSQATGPLVDVSDAR
  PGTNPTTRRNAKAGPTARNRYASQWTLNRPHPTISAHTLTTDWRLPTPRAAGSVDKESDSYSVSPSQDTDRARSS
  MVSTESASSTYEELARAYEHAKMEEQLRHAKFTITECFISDTSSEQLTAGTNEYTDSLTSSTPSESGICRFTASP
  PKPQDGGRVMNMAVPKAHRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQKSRTLKRPTVLEPIPMEA
  ASSASSTREGQSWQPGAVATLPQREGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV

• Structural information:
  • Protein Domains: (39..12-)
    1 (/note="Ig-like-C2-type)
    (125..21-)
    2 (/note="Ig-like-C2-type)
    (225..30-)
    3 (/note="Ig-like-C2-type)
    (313..40-)
    4 (/note="Ig-like-C2-type)
    (407..50-)
    5 (/note="Ig-like-C2-type)
    (504..59-)
    (/note="Ig-lik-)
  • Interpro: IPR033027  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  IPR013106  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000383303
• Other Databases: GeneCards:  DSCAM  Malacards:  DSCAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030424	axon	IBA	cellular component
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0048842	positive regulation of axon extension involved in axon guidance	IDA	biological process
GO:0042327	positive regulation of phosphorylation	IDA	biological process
GO:0060219	camera-type eye photoreceptor cell differentiation	ISS	biological process
GO:0010842	retina layer formation	ISS	biological process
GO:0070593	dendrite self-avoidance	ISS	biological process
GO:0030424	axon	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0007416	synapse assembly	ISS	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	ISS	biological process
GO:0030426	growth cone	ISS	cellular component
GO:0007162	negative regulation of cell adhesion	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070593	dendrite self-avoidance	IEA	biological process
GO:0060060	post-embryonic retina morphogenesis in camera-type eye	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0007626	locomotory behavior	IEA	biological process
GO:1990890	netrin receptor binding	IEA	molecular function
GO:1990782	protein tyrosine kinase binding	IEA	molecular function
GO:0048842	positive regulation of axon extension involved in axon guidance	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0038007	netrin-activated signaling pathway	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0007411	axon guidance	IEA	biological process
GO:0007162	negative regulation of cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0007411	axon guidance	ISS	biological process
GO:1990890	netrin receptor binding	IPI	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq