SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )
Autism Reports / Total Reports
2 / 4Rare Variants / Common Variants
1 / 1Aliases
SDC2, HSPG, HSPG1, SYND2Associated Syndromes
-Chromosome Band
8q22.1Associated Disorders
-Relevance to Autism
Rare mutation in the SDC2 gene has been identified with autism (Ishikawa-Brush et al., 1997).
Molecular Function
The encoded protein is s a transmembrane (type I) heparan sulfate proteoglycan a nd is a member of the syndecan proteoglycan family.
External Links
SFARI Genomic Platforms
Reports related to SDC2 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Recent Recommendation | Syndecan-2 is expressed in the microvasculature of gliomas and regulates angiogenic processes in microvascular endothelial cells | Fears CY , et al. (2006) | No | - |
2 | Positive Association | Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia | Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017) | Yes | - |
3 | Primary | Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene | Ishikawa-Brush Y , et al. (1997) | Yes | - |
4 | Highly Cited | Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells | Cohen AR , et al. (1998) | No | - |
Rare Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | translocation | - | - | - | 9259269 | Ishikawa-Brush Y , et al. (1997) |
Common Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.60+25594G>T;c.-28+25882G>T | - | intron_variant | - | - | - | 28540026 | Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017) |
SFARI Gene score
Strong Candidate


Ishikawa-Brush et al., 1997 (PMID: 9259269) showed a translocation breakpoint 30 kb from SDC2.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022

Decreased from 3 to 2
Description
Ishikawa-Brush et al., 1997 (PMID: 9259269) showed a translocation breakpoint 30 kb from SDC2.
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
Ishikawa-Brush et al., 1997 (PMID: 9259269) showed a translocation breakpoint 30 kb from SDC2.
Reports Added
[New Scoring Scheme]4/1/2017

Decreased from 4 to 4
Description
Ishikawa-Brush et al., 1997 (PMID: 9259269) showed a translocation breakpoint 30 kb from SDC2.
Reports Added
[Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.1997] [Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells.1998] [Syndecan-2 is expressed in the microvasculature of gliomas and regulates angiogenic processes in microvascular endothelial cells.2006] [Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...2017]7/1/2014

Increased from No data to 4
Description
Ishikawa-Brush et al., 1997 (PMID: 9259269) showed a translocation breakpoint 30 kb from SDC2.
4/1/2014

Increased from No data to 4
Description
Ishikawa-Brush et al., 1997 (PMID: 9259269) showed a translocation breakpoint 30 kb from SDC2.
Krishnan Probability Score
Score 0.45630212155755
Ranking 9905/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.57994960090707
Ranking 5091/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.90787672838898
Ranking 7255/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 2
Ranking 407/461 scored genes
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Zhang D Score
Score -0.17793533715868
Ranking 14901/20870 scored genes
[Show Scoring Methodology]
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
CYP2C18 | cytochrome P450, family 2, subfamily C, polypeptide 18 | Human | Protein Binding | 1562 | P33260 |
LIPG | Endothelial lipase | Human | Protein Binding | 9388 | Q9Y5X9 |
SERPINA1 | "<span title=""The name recommended by the UniProt consortium for this chain/part."" class=""tooltipped RECOMMENDED""><a href=""#PRO_0000364030"" onclick=""uniprot.entryViews.openSectionForInternalLink('PRO_0000364030');"">Short peptide from AAT</a>" | Human | Protein Binding | 5265 | P01009 |
SLC7A3 | Cationic amino acid transporter 3 | Human | Protein Binding | 84889 | Q8WY07 |