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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DISP3
dispatched RND transporter family member 3
Chromosome 1 · 1p36.22
NCBI Gene: 57540Ensembl: ENSG00000204624.9HGNC: HGNC:29251UniProt: Q9P2K9
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of neuron differentiationpositive regulation of lipid metabolic processpositive regulation of neural precursor cell proliferationcytoplasmalcohol drinkingrheumatic diseaseglaucomaurinary bladder cancer
✦AI Summary

DISP3 (dispatched RND transporter family member 3) is a sterol-sensing domain-containing protein that functions as a critical regulator of neural stem cell fate decisions and cholesterol homeostasis 1. In neural tissue, DISP3 promotes proliferation of neural progenitor cells while suppressing their differentiation 2. At the molecular level, DISP3 localizes to the endoplasmic reticulum where it colocalizes with cholesterol and influences cellular cholesterol distribution 1. DISP3 expression is dynamically regulated during neural differentiation, with decreased expression observed upon differentiation into astrocytes, neurons, and oligodendrocytes, suggesting its role in maintaining neural stem cell identity 3. DISP3 likely participates in the Hedgehog signaling pathway as a member of the Dispatched family of lipid-modified protein transporters 4. Clinically, DISP3 variants have been associated with multiple phenotypes: a protective polymorphism (rs2076469) was identified in congenital Zika syndrome susceptibility 5, and PTCHD2 (DISP3) variants were significantly associated with spherical equivalent and refractive error in ocular studies 6. Additionally, DISP3 variants showed association with tanning dependence 7. These findings suggest DISP3's involvement in thyroid hormone-regulated cholesterol metabolism and neurodevelopmental processes.

Sources cited
1
DISP3 promotes neural progenitor cell proliferation and delays differentiation
PMID: 25281927
2
DISP3 expression is reduced upon neural stem cell differentiation and regulates self-renewal versus differentiation decisions
PMID: 28134287
3
DISP3 is a sterol-sensing protein that links thyroid hormone action to cholesterol metabolism, localizes to ER and colocalizes with cholesterol
PMID: 19179482
4
DISP3 is a member of the Dispatched family implicated in Hedgehog signaling pathway
PMID: 16258256
5
DISP3 variant rs2076469 shows protective association with congenital Zika syndrome
PMID: 34125832
6
PTCHD2 (DISP3) variation is associated with spherical equivalent and refractive errors
PMID: 27440996
7
PTCHD2 (DISP3) variants are associated with tanning dependence
PMID: 25041255
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.30Weak
rheumatic diseaseOpen Targets
0.28Weak
glaucomaOpen Targets
0.23Weak
urinary bladder cancerOpen Targets
0.22Weak
Testicular regression syndromeOpen Targets
0.05Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.05Suggestive
open-angle glaucomaOpen Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
trauma complicationOpen Targets
0.05Suggestive
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
0.05Suggestive
cryptorchidismOpen Targets
0.04Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
azoospermiaOpen Targets
0.04Suggestive
spermatogenic failure 71Open Targets
0.04Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.04Suggestive
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyOpen Targets
0.04Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.04Suggestive
hypogonadotropic hypogonadism 14 with or without anosmiaOpen Targets
0.04Suggestive
Leydig cell hypoplasiaOpen Targets
0.04Suggestive
46,XY disorder of sex development due to isolated 17,20 lyase deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBIAD1Protein interaction95%FBXO2Protein interaction88%DISP2Shared pathway20%EVC2Shared pathway17%HSDL2Shared pathway17%MINAR2Shared pathway14%
Tissue Expression6 tissues
Brain
100%
Ovary
2%
Lung
1%
Bone Marrow
1%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
DISP3UBIAD1FBXO2DISP2EVC2HSDL2MINAR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P2K9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.64–0.89]
RankingsWhere DISP3 stands among ~20K protein-coding genes
  • #15,244of 20,598
    Most Researched16
  • #7,919of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedDISP3
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Hedgehog signaling pathway and gastric cancer.
PMID: 16258256
Cancer Biol Ther · 2005
1.00
2
DISP3 promotes proliferation and delays differentiation of neural progenitor cells.
PMID: 25281927
FEBS Lett · 2014
0.89
3
Modulated DISP3/PTCHD2 expression influences neural stem cell fate decisions.
PMID: 28134287
Sci Rep · 2017
0.78
4
DISP3, a sterol-sensing domain-containing protein that links thyroid hormone action and cholesterol metabolism.
PMID: 19179482
Mol Endocrinol · 2009
0.67
5
Identification and characterization of DISP3 gene in silico.
PMID: 15645143
Int J Oncol · 2005
0.56