DISP3 Gene

Name dispatched RND transporter family member 3
Description Involved in negative regulation of neuron differentiation; positive regulation of lipid metabolic process; and positive regulation of neural precursor cell proliferation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DISP3 (also known as PTCHD2) is emerging as a multifunctional protein with roles in neural development and cholesterol homeostasis. Functional studies in neural stem and progenitor cells indicate that DISP3 is highly expressed in neural tissues, where its expression promotes cell proliferation and maintains “stemness,” while its reduction facilitates differentiation into neurons, astrocytes, and oligodendrocytes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, DISP3 localizes to the endoplasmic reticulum and colocalizes with cholesterol; its ectopic expression in fibroblasts leads to increased cholesterol levels and altered cholesterol distribution, suggesting that it may act as a molecular link between thyroid hormone signaling and cholesterol metabolism in specific neural cell types."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Furthermore, during neural crest development, DISP3 expression is modulated by key epigenetic regulators (e.g., NSD3), with its downregulation upon NSD3 knockdown further underscoring its importance in early neurodevelopment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Genetic studies have also implicated DISP3/PTCHD2 in neurodevelopmental processes: rare variants or mutations in this gene have been associated with intellectual disability"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", while common variants show suggestive protective effects in congenital conditions such as congenital Zika syndrome and appear to contribute to variation in ocular refraction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Collectively, these findings support a model in which DISP3 is pivotal for balancing neural progenitor proliferation and differentiation and may influence neural function via its regulation of intracellular cholesterol, with perturbations in its expression or function contributing to neurodevelopmental and neurological disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jana Konířová, Jana Oltová, Alicia Corlett, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Modulated DISP3/PTCHD2 expression influences neural stem cell fate decisions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep41597"}], "href": "https://doi.org/10.1038/srep41597"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28134287"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28134287"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Martina Zíková, Jana Konířová, Karolína Ditrychová, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DISP3 promotes proliferation and delays differentiation of neural progenitor cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2014.09.036"}], "href": "https://doi.org/10.1016/j.febslet.2014.09.036"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25281927"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25281927"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Martina Zikova, Alicia Corlett, Zdenka Bendova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DISP3, a sterol-sensing domain-containing protein that links thyroid hormone action and cholesterol metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Endocrinol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/me.2008-0271"}], "href": "https://doi.org/10.1210/me.2008-0271"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19179482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19179482"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Bridget T Jacques-Fricke, Julaine Roffers-Agarwal, Amina O Hussein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Profiling NSD3-dependent neural crest gene expression reveals known and novel candidate regulatory factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Biol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ydbio.2021.02.015"}], "href": "https://doi.org/10.1016/j.ydbio.2021.02.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33705737"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33705737"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Tawfiq Jamal Froukh "}, {"type": "b", "children": [{"type": "t", "text": "Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Tohoku J Exp Med (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1620/tjem.243.297"}], "href": "https://doi.org/10.1620/tjem.243.297"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29269699"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29269699"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Victor Borda, Ronaldo da Silva Francisco Junior, Joseane B Carvalho, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Negl Trop Dis (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pntd.0009507"}], "href": "https://doi.org/10.1371/journal.pntd.0009507"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34125832"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34125832"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Fei Chen, Priya Duggal, Barbara E K Klein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variation in PTCHD2, CRISP3, NAP1L4, FSCB, and AP3B2 associated with spherical equivalent."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2016)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27440996"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27440996"}]}]}]}
NCBI Gene ID 57540
API
Download Associations
Predicted Functions View DISP3's ARCHS4 Predicted Functions.
Co-expressed Genes View DISP3's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View DISP3's ARCHS4 Predicted Functions.

Functional Associations

DISP3 has 1,006 functional associations with biological entities spanning 5 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 22 datasets.

Click the + buttons to view associations for DISP3 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of DISP3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with DISP3 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of DISP3 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing DISP3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with DISP3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with DISP3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving DISP3 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing DISP3 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of DISP3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of DISP3 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with DISP3 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by DISP3 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of DISP3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of DISP3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
Kinase Library Tyrosine Kinome Atlas kinases that phosphorylate DISP3 protein from the Kinase Library Tyrosine Kinome Atlas dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of DISP3 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of DISP3 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of DISP3 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of DISP3 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of DISP3 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of DISP3 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with DISP3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.