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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DPYSL5
dihydropyrimidinase like 5
Chromosome 2 · 2p23.3
NCBI Gene: 56896Ensembl: ENSG00000157851.18HGNC: HGNC:20637UniProt: Q9BPU6
69PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of dendrite morphogenesispyrimidine nucleobase catabolic processhydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidesRitscher-Schinzel syndrome 4developmental disorder of mental healthcomplex neurodevelopmental disorder3C syndrome
✦AI Summary

DPYSL5 (dihydropyrimidinase-like 5) is a cytosolic phosphoprotein that plays critical roles in neuronal development and brain formation. Primary function: DPYSL5 mediates negative regulation of dendrite morphogenesis and axonal guidance through interactions with cytoskeleton-associated proteins, particularly MAP2 and β-tubulin 1. Mechanism: DPYSL5 functions as an intracellular mediator of neurotrophic factor signaling, regulating dendritic arborization, axonal elongation, and synaptic density during early brain development 2. In cancer contexts, DPYSL5 promotes cellular plasticity via EZH2-mediated PRC2 activation, driving neuroendocrine transformation in prostate cancer 3. Disease relevance: De novo missense variants in DPYSL5 cause neurodevelopmental disorders with brain malformations, including corpus callosum agenesis and cerebellar abnormalities 14. These variants impair dendritic outgrowth and synaptic development, resulting in developmental delay and intellectual disability 4. DPYSL5 mutations are associated with Ritscher-Schinzel syndrome 4, a rare genetic condition characterized by craniofacial dysmorphism and neurological abnormalities 5. Clinical significance: DPYSL5 represents a key regulator of brain development and is increasingly recognized as important in both neurodevelopmental pathology and neoplastic transformation, suggesting therapeutic potential in both developmental and oncological contexts.

Sources cited
1
DPYSL5 mediates dendrite patterning and axonal pathfinding; missense variants cause brain malformations and impair interaction with MAP2 and β-tubulin
PMID: 33894126
2
DPYSL5 missense variants cause neurodevelopmental disorders with impaired dendritic arborization, axonal elongation, and synaptic density
PMID: 41286434
3
DPYSL5 promotes prostate cancer cell plasticity and neuroendocrine transformation via EZH2/PRC2 activation
PMID: 38238517
4
DPYSL proteins regulate growth cone collapse, neurite extension, axonal guidance, and synaptic plasticity; pathogenic variants linked to intellectual disability and brain malformations
PMID: 37144098
5
DPYSL5 mutations cause Ritscher-Schinzel syndrome 4, characterized by craniofacial dysmorphism, developmental delay, and intellectual disability
PMID: 36130690
6
DPYSL5 is among few genes with conserved expression in immature dentate granule cells across mammalian species
PMID: 40027814
7
DPYSL5 shows shared expression in immature granule cells involved in adult hippocampal neurogenesis across species
PMID: 40790267
Disease Associationsⓘ21
Ritscher-Schinzel syndrome 4Open Targets
0.63Moderate
3C syndromeOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
developmental disorder of mental healthOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
clonal hematopoiesisOpen Targets
0.31Weak
essential hypertensionOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
hypertensionOpen Targets
0.16Weak
osteoarthritisOpen Targets
0.13Weak
Dandy-Walker syndromeOpen Targets
0.11Weak
Genetic syndrome with a Dandy-Walker malformation as major featureOpen Targets
0.11Weak
Ritscher-Schinzel syndrome 1Open Targets
0.11Weak
type 1 diabetes nephropathyOpen Targets
0.11Weak
paraneoplastic neurologic syndromeOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
osteosarcomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
angina pectorisOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
Ritscher-Schinzel syndrome 4UniProt
Pathogenic Variants1
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys)Pathogenic
Ritscher-Schinzel syndrome 4|not provided|DPYSL5-related disorder
★★☆☆2026→ Residue 41
View on ClinVar ↗
Related Genes
UMPSProtein interaction100%FESProtein interaction92%DPP10Protein interaction89%BIN1Protein interaction87%SLC6A5Protein interaction84%GLRA1Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Liver
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DPYSL5UMPSFESDPP10BIN1SLC6A5GLRA1
PROTEIN STRUCTURE
Preparing viewer…
PDB4B91 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.27Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.27]
RankingsWhere DPYSL5 stands among ~20K protein-coding genes
  • #6,794of 20,598
    Most Researched69
  • #5,002of 5,498
    Most Pathogenic Variants1
  • #901of 17,882
    Most Constrained (LOEUF)0.27 · top 10%
Genes detectedDPYSL5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DPYSL5 is highly expressed in treatment-induced neuroendocrine prostate cancer and promotes lineage plasticity via EZH2/PRC2.
PMID: 38238517
Commun Biol · 2024
1.00
2
Autoimmune myelopathies.
PMID: 27112686
Handb Clin Neurol · 2016
0.90
3
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
PMID: 36130690
Eur J Med Genet · 2022
0.80
4
Comparative molecular landscapes of immature neurons in the mammalian dentate gyrus across species reveal special features in humans.
PMID: 40027814
bioRxiv · 2025
0.70
5
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
PMID: 41286434
Mol Psychiatry · 2026
0.60