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DSCAM DS cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 1826, updated on 19-Aug-2025
Official Symbol
DSCAMprovided by HGNC
Official Full Name
DS cell adhesion moleculeprovided by HGNC
Primary source
HGNC:HGNC:3039
See related
Ensembl:ENSG00000171587 MIM:602523; AllianceGenome:HGNC:3039
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHD2; CHD2-42; CHD2-52
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 gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Expression
Biased expression in brain (RPKM 4.3), spleen (RPKM 0.3) and 2 other tissues See more
Orthologs
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See DSCAM in Genome Data Viewer
Location:
21q22.2
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (40010999..40847158, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (38398213..39235595, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (41382926..42219084, complement)

Chromosome 21 - NC_000021. 9 VSports最新版本.

Genomic Sequence: NC_000021. 9 Chromosome 21 Reference GRCh38. p14 Primary Assembly NW_025791814. 1 Chromosome 21 Reference GRCh38. p14 PATCHES NC_060945 V体育平台登录. 1 Chromosome 21 Alternate T2T-CHM13v2. 0 NC_000021. 8 Chromosome 21 Reference GRCh37. p13 Primary Assembly .

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: "VSports" PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-10-10)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2023-10-10)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common variation near ROBO2 is associated with expressive vocabulary in infancy.
EBI GWAS Catalog
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
EBI GWAS Catalog
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
EBI GWAS Catalog
Genome-wide association study of co-occurring anxiety in major depression.
EBI GWAS Catalog
Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

"V体育平台登录" Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables netrin receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables netrin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in camera-type eye photoreceptor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in dendrite self-avoidance IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in dendrite self-avoidance IEA
Inferred from Electronic Annotation
more info
 
involved_in dendrite self-avoidance ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in netrin-activated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of axon extension involved in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of axon extension involved in axon guidance IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of axon extension involved in axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within post-embryonic retina morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in retina layer formation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within social behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in axon IEA
Inferred from Electronic Annotation
more info
 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
located_in synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
cell adhesion molecule DSCAM
Names
Down syndrome cell adhesion molecule

NEW Try the new Transcript table

"V体育安卓版" RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds VSports app下载. Explain.

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build V体育官网. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above. .

mRNA and Protein(s)

  1. "VSports在线直播" NM_001271534. 3 → NP_001258463 VSports手机版. 1  cell adhesion molecule DSCAM isoform 2 precursor.

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform CHD2-42.
    Source sequence(s)
    AF023449, AF043945, AF064862, AF289030, BM684380
    UniProtKB/TrEMBL
    Q59GH3
    Conserved Domains (8) summary
    cd00096
    Location:424493
    Ig; Immunoglobulin domain
    cd05734
    Location:707784
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:239300
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:44113
    IG; Immunoglobulin
    smart00410
    Location:236310
    IG_like; Immunoglobulin like
    cd00063
    Location:13801470
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:690784
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:802889
    Ig; Immunoglobulin domain
  2. V体育2025版 - NM_001389. 5 → NP_001380 V体育安卓版. 2  cell adhesion molecule DSCAM isoform CHD2-42 precursor.

    See identical proteins and their annotated locations for NP_001380. 2 V体育ios版.

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (CHD2-42).
    Source sequence(s)
    AF043945, AF064862, AF217525, BE503065, BM684380
    Consensus CDS
    CCDS42929.1
    UniProtKB/Swiss-Prot
    O60468, O60469
    UniProtKB/TrEMBL
    Q59GH3
    Related
    ENSP00000383303.1, ENST00000400454.6
    Conserved Domains (8) summary
    cd05734
    Location:707784
    Ig_DSCAM; Immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:518575
    IGc2; Immunoglobulin C-2 Type
    cd00063
    Location:13801470
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:235310
    I-set; Immunoglobulin I-set domain
    pfam13927
    Location:407488
    Ig_3; Immunoglobulin domain
    cd00096
    Location:13031369
    Ig; Immunoglobulin domain
    cl11960
    Location:802889
    Ig; Immunoglobulin domain
    cl28434
    Location:596686
    I-set; Immunoglobulin I-set domain

RNA

  1. NR_073202.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF023450, AF043945, AF064862, AF217525, BM684380

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    40010999..40847158 complement
    Download
    GenBank (VSports最新版本), FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028281.2 (VSports app下载)XP_016883770.1  cell adhesion molecule DSCAM isoform X1

    UniProtKB/TrEMBL
    Q8WY19
    Related
    ENSP00000478698.1, ENST00000617870.4
    Conserved Domains (7) summary
    cd00096
    Location:188257
    Ig; Immunoglobulin domain
    cd05734
    Location:471548
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:364
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:174
    IG_like; Immunoglobulin like
    cd00063
    Location:11441234
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:454548
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:566653
    Ig; Immunoglobulin domain

Reference GRCh38.p14 PATCHES (V体育安卓版)

Genomic

  1. NW_025791814.1 Reference GRCh38.p14 PATCHES

    Range
    150307..986812 complement
    Download
    VSports app下载 - GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333308.1 (V体育官网)XP_054189283.1  cell adhesion molecule DSCAM isoform X1

    UniProtKB/TrEMBL
    Q8WY19

Alternate T2T-CHM13v2.0 (VSports手机版)

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    38398213..39235595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324369.1XP_054180344.1  cell adhesion molecule DSCAM isoform X2

    UniProtKB/TrEMBL
    A0A087WUI7