CXXC5CXXC finger protein 5
Autism Reports / Total Reports
4 / 5Rare Variants / Common Variants
5 / 0Aliases
-Associated Syndromes
-Chromosome Band
5q31.2Associated Disorders
-Relevance to Autism
Chen et al., 2025 integrated cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 non-coding de novo mutations (ncDNMs) in ASD probands from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts and identified ncDNMs that down-regulated expression of the CXCC5 gene in two SSC probands. Additional de novo variants in this gene, including a loss-of-function variant and two missense variants, have been identified in ASD probands (De Rubeis et al., 2014; Zhou et al., 2022; Fu et al., 2022).
Molecular Function
The protein encoded by this gene is a retinoid-inducible nuclear protein containing a CXXC-type zinc finger motif. The encoded protein is involved in myelopoiesis, is required for DNA damage-induced p53 activation, regulates the differentiation of C2C12 myoblasts into myocytes, and negatively regulates cutaneous wound healing. CXXC5 was identified as a novel BMP4-regulated modulator of Wnt signaling in neural stem cells in Andersson et al., 2009.
SFARI Genomic Platforms
Reports related to CXXC5 (5 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | - | Therese Andersson et al. (2009) | No | - |
| 2 | Support | Synaptic, transcriptional and chromatin genes disrupted in autism | De Rubeis S , et al. (2014) | Yes | - |
| 3 | Support | - | Zhou X et al. (2022) | Yes | - |
| 4 | Support | - | Fu JM et al. (2022) | Yes | - |
| 5 | Primary | - | Congcong Chen et al. () | Yes | - |
Rare Variants (5)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| G>C | - | intergenic_variant | De novo | - | Simplex | 40738258 | Congcong Chen et al. () | |
| c.799G>A | p.Ala267Thr | missense_variant | De novo | - | - | 35982160 | Fu JM et al. (2022) | |
| c.-161+847T>G | - | intron_variant | De novo | - | Simplex | 40738258 | Congcong Chen et al. () | |
| c.246C>G | p.Tyr82Ter | stop_gained | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
| c.430C>A | p.Leu144Met | missense_variant | De novo | - | - | 25363760 | De Rubeis S , et al. (2014) |
Common Variants
No common variants reported.