DSCAM DS cell adhesion molecule
Gene ID: 1826, updated on 10-Oct-2024Gene type: protein coding
Also known as: CHD2; CHD2-42; CHD2-52
- See all available tests in GTR for this gene
- Go to complete Gene record for DSCAM
- Go to Variation Viewer for DSCAM variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variation near ROBO2 is associated with expressive vocabulary in infancy. GeneReviews: Not available | |
| Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. GeneReviews: Not available | |
| Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. GeneReviews: Not available | |
| Genome-wide association study of co-occurring anxiety in major depression. GeneReviews: Not available | |
| Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-10-10) ClinGen Genome Curation PageHaploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2023-10-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 21q22.2
- Sequence:
- Chromosome: 21; NC_000021.9 (40010999..40847158, complement)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DSCAM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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