ZFYVE9zinc finger FYVE-type containing 9
Autism Reports / Total Reports
5 / 6Rare Variants / Common Variants
6 / 0Aliases
-Associated Syndromes
-Chromosome Band
1p32.3Associated Disorders
-Relevance to Autism
Functional assessment of de novo 5'UTR variants identified in ASD probands from the Simons Simplex Collection (SSC) by massively parallel reporter assay (MPRA) using polysomes from cell lines in Plassmeyer et al., 2025 reported an ASD-associated 5'UTR variant in the ZFYVE9 gene that resulted in a significant effect on 40S-total RNA enrichment in in cellulo MPRA studies in HEK cells, as well as increased protein expression in a dual-luciferase reporter assay (FDR-adjusted p-value < 0.05). Several de novo variants in this gene, including a de novo loss-of-function variant and a de novo missense variant that was predicted to be deleterious by CADD and REVEL, have been identified in ASD probands from the Simons Simplex Collection and the SPARK cohort (Iossifov et al., 2014; Zhou et al., 2022).
Molecular Function
This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. Suppresion of Zfyve9 in the developing mouse brain resulted in impaired neuronal orientation and migration across the intermediate zone, as well as increased surface expression of the L1 cell adhesion molecule in Zfyve9-suppressed neurons (Mestres et al., 2016).
SFARI Genomic Platforms
Reports related to ZFYVE9 (6 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 2 | Support | - | Iván Mestres et al. (2016) | No | - |
| 3 | Support | - | Zhou X et al. (2022) | Yes | - |
| 4 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
| 5 | Support | - | Ashlesha Gogate et al. (2024) | Yes | - |
| 6 | Primary | - | Stephen P Plassmeyer et al. (2025) | Yes | - |
Rare Variants (6)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.2258G>A | p.Cys753Tyr | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.1461T>G | p.Gly487= | synonymous_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.-162G>A | - | 5_prime_UTR_variant | De novo | - | Simplex | 41344325 | Stephen P Plassmeyer et al. (2025) | |
| c.1276dup | p.Ser426LysfsTer4 | frameshift_variant | De novo | - | Unknown | 35982159 | Zhou X et al. (2022) | |
| c.2642T>A | p.Phe881Tyr | missense_variant | Unknown | - | Simplex | 39632905 | Ashlesha Gogate et al. (2024) | |
| c.133_134insTG | p.His45LeufsTer13 | frameshift_variant | Familial | Paternal | Simplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.