Human Gene Module / Chromosome 1 / CSMD2

CSMD2CUB and Sushi multiple domains 2

SFARI Gene Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
5 / 8
Rare Variants / Common Variants
12 / 2
Aliases
-
Associated Syndromes
-
Chromosome Band
1p35.1
Associated Disorders
-
Relevance to Autism

A number of de novo variants in the CSMD2 gene, including a de novo loss-of-function variant and four de novo missense variants, have been identified in ASD probands from the Simons Simplex Collection, the SPARK cohort, the MSSNG cohort, a Chinese ASD cohort, and a Pakistani ASD cohort (Iossifov et al., 2014; Zhou et al., 2022; Yuan et al., 2023; Khan et al., 2024). A compound heterozygous mutation in the CSMD2 gene consisting of two inherited missense variants was reported in an ASD proband born to non-consanguineous parents (Tuncay et al., 2022). A de novo missense variant in this gene was also identified in an ADHD proband from a simplex family in Kim et al., 2017.

Molecular Function

The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Variants in this gene have been found to associate with adult ADHD (Lesch et al., 2008) and schizophrenia (Havik et al., 2011).

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to CSMD2 (8 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Positive Association Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies Lesch KP , et al. (2008) No -
2 Positive Association - Bjarte HÃ¥vik et al. (2011) No -
3 Support The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
4 Support - Daniel Seung Kim et al. (2017) No -
5 Support - Tuncay IO et al. (2022) Yes DD
6 Support - Zhou X et al. (2022) Yes -
7 Support - Yuan B et al. (2023) Yes -
8 Primary - Hamid Khan et al. (2024) Yes -
Rare Variants   (12)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.712+1G>T - splice_site_variant De novo - - 35982159 Zhou X et al. (2022)
- - upstream_gene_variant De novo - Simplex 25363768 Iossifov I et al. (2014)
c.2780C>T p.Ala927Val missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.7903C>T p.Arg2635Cys missense_variant De novo - - 36881370 Yuan B et al. (2023)
c.8925C>T p.Ser2975= synonymous_variant De novo - - 35982159 Zhou X et al. (2022)
c.8628C>T p.Phe2876= synonymous_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.8713A>G p.Thr2905Ala missense_variant De novo - Multiplex 35982159 Zhou X et al. (2022)
c.5984G>A p.Arg1995Gln missense_variant De novo - Simplex 38649688 Hamid Khan et al. (2024)
c.6435C>T p.Phe2145= synonymous_variant De novo - Simplex 25363768 Iossifov I et al. (2014)
c.2671A>G p.Ile891Val missense_variant De novo - Simplex 28332277 Daniel Seung Kim et al. (2017)
c.2107G>A p.Val703Met missense_variant Familial Paternal Simplex 35190550 Tuncay IO et al. (2022)
c.9665G>A p.Arg3222His missense_variant Familial Maternal Simplex 35190550 Tuncay IO et al. (2022)
Common Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.920+23837C>A;c.800+23837C>A - intron_variant - - - 18839057 Lesch KP , et al. (2008)
c.1034-3332C>A;c.914-3332C>A - intron_variant - - - 21439553 Bjarte HÃ¥vik et al. (2011)
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