HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PTPRD
protein tyrosine phosphatase receptor type D
Chromosome 9 · 9p24.1-p23
NCBI Gene: 5789Ensembl: ENSG00000153707.20HGNC: HGNC:9668UniProt: P23468
131PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedReceptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glutamatergic synapseprotein bindingsynaptic membrane adhesionextracellular exosomeneurodegenerative diseaseinsomniarestless legs syndromeplacenta praevia
✦AI Summary

PTPRD (protein tyrosine phosphatase receptor type D) is a receptor-type protein tyrosine phosphatase functioning as a neuronal cell adhesion molecule and synaptic specifier 1. The protein bidirectionally induces pre- and post-synaptic neuronal differentiation through trans-synaptic interactions with IL1RAP and IL1RAPL1, and mediates pre-synaptic differentiation via SLITRK2 interaction. PTPRD exhibits phosphatase activity and mediates trans-synaptic signaling critical for synapse assembly and dendritic spine morphogenesis. PTPRD demonstrates pleiotropic involvement in neurological phenotypes. Mouse models and human genetics implicate PTPRD in addiction, restless leg syndrome, cognitive impairment/intellectual disability, mood lability, and obsessive-compulsive disorder 1. Recent studies reveal asprosin-PTPRD signaling in cerebellar Purkinje neurons modulates thirst behavior, suggesting potential therapeutic targets for thirst disorders 2. Beyond neurobiology, PTPRD functions as a tumor suppressor gene. It is frequently inactivated through homozygous deletions and epigenetic downregulation in hepatocellular carcinomas, with expression loss in 82.6% of primary HCC samples 3. PTPRD variants associate with marginal zone lymphomas [PMID:37294969; 48], nonalcoholic fatty liver disease susceptibility 5, blood pressure response to β-blockers, and resistant hypertension 6. These findings establish PTPRD as a pleiotropic molecule relevant to neurological, metabolic, and cardiovascular disorders.

Sources cited
1
PTPRD functions as neuronal cell adhesion molecule and synaptic specifier; associated with addiction, restless leg syndrome, cognitive impairment, mood lability, and obsessive-compulsive disorder
PMID: 30648269
2
Asprosin-PTPRD signaling in cerebellar Purkinje neurons modulates thirst behavior; potential therapeutic target for thirst disorders
PMID: 38987435
3
PTPRD is homozygously deleted and epigenetically downregulated in hepatocellular carcinomas; expression lost in 82.6% of primary HCC samples; functions as tumor suppressor
PMID: 25831062
4
PTPRD mutations associated with marginal zone lymphomas
PMID: 37294969
5
PTPRD mutations present in marginal zone lymphoma entities; involved in lymphoma pathogenesis
PMID: 32732678
6
PTPRD variants associated with nonalcoholic fatty liver disease susceptibility in genome-wide association meta-analysis
PMID: 37709864
7
PTPRD polymorphisms associated with blood pressure response to atenolol and resistant hypertension
PMID: 26425837
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
insomniaOpen Targets
0.43Moderate
restless legs syndromeOpen Targets
0.42Moderate
placenta praeviaOpen Targets
0.41Moderate
open-angle glaucomaOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.36Weak
trauma complicationOpen Targets
0.36Weak
smoking initiationOpen Targets
0.36Weak
Abnormality of the skeletal systemOpen Targets
0.35Weak
protozoa infectious diseaseOpen Targets
0.35Weak
preeclampsiaOpen Targets
0.35Weak
cervical carcinomaOpen Targets
0.35Weak
schizophreniaOpen Targets
0.34Weak
Abnormality of the gastrointestinal tractOpen Targets
0.34Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.34Weak
Peyronie diseaseOpen Targets
0.34Weak
liver diseaseOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
ovarian neoplasmOpen Targets
0.33Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IL1RAPProtein interaction99%SLITRK1Protein interaction99%PPFIA1Protein interaction97%PPFIBP1Protein interaction92%NLGN3Protein interaction90%LRFN5Protein interaction88%
Tissue Expression6 tissues
Brain
100%
Ovary
60%
Heart
32%
Liver
23%
Lung
11%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
PTPRDIL1RAPSLITRK1PPFIA1PPFIBP1NLGN3LRFN5
PROTEIN STRUCTURE
Preparing viewer…
PDB2YD6 · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.11–0.20]
RankingsWhere PTPRD stands among ~20K protein-coding genes
  • #3,574of 20,598
    Most Researched131 · top quartile
  • #472of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedPTPRD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Marginal zone lymphomas.
PMID: 37294969
Hematol Oncol · 2023
1.00
2
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.
PMID: 37709864
Nat Genet · 2023
0.90
3
The cerebellum modulates thirst.
PMID: 38987435
Nat Neurosci · 2024
0.80
4
Marginal Zone Lymphomas.
PMID: 32732678
Cancer J · 2020
0.70
5
DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
PMID: 34299935
Int J Environ Res Public Health · 2021
0.60