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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PTPDC1
protein tyrosine phosphatase domain containing 1
Chromosome 9 Β· 9q22.32
NCBI Gene: 138639Ensembl: ENSG00000158079.16HGNC: HGNC:30184UniProt: A0A087WTF0
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein tyrosine phosphatase activitycilium assemblycytoplasmdiaphragmatic herniadiabetes mellitusulcerative colitistype 2 diabetes mellitus
✦AI Summary

PTPDC1 (protein tyrosine phosphatase domain containing 1) is a gene located on chromosome 9 with putative roles in cellular signaling and cilia biology. The protein contains a tyrosine phosphatase domain and may participate in cilia formation and/or maintenance [UniProt annotation]. PTPDC1 exhibits protein binding activity and is localized to the cytoplasm where it may influence cilium assembly through its phosphatase function [GO annotations]. Clinically, PTPDC1 has emerged as a disease-associated locus in multiple contexts. A genome-wide association study identified PTPDC1 as one of 22 potential loci implicated in sporadic Parkinson's disease susceptibility in Han Chinese populations, suggesting involvement in neurodegeneration pathways 1. More prominently, a circular RNA derived from PTPDC1 (circ-PTPDC1) is significantly upregulated in gastric cancer tissues and serum, where it promotes cancer cell proliferation, migration, and invasion through a miR-139-3p/ELK1 regulatory axis 2. Elevated circ-PTPDC1 correlates with advanced clinical stage, invasion depth, and poor patient survival, establishing it as a prognostic biomarker for gastric cancer 2. Additionally, PTPDC1-derived peptides show altered abundance in breast cancer plasma compared to controls and other diseases 3. These findings suggest PTPDC1 functions in both normal biological processes and disease pathogenesis, with particular relevance as a cancer biomarker.

Sources cited
1
Circular PTPDC1 RNA is upregulated in gastric cancer and promotes cancer cell proliferation, migration, and invasion through miR-139-3p/ELK1 axis; elevated levels correlate with advanced stage and poor survival
PMID: 34803498
2
PTPDC1 identified as a potential susceptibility locus for sporadic Parkinson's disease in Han Chinese populations through genome-wide association study
PMID: 26227905
3
PTPDC1-derived peptides show significantly altered observation frequency in breast cancer plasma compared to controls and other diseases
PMID: 31889940
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
diaphragmatic herniaOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
metabolic syndromeOpen Targets
0.12Weak
preeclampsiaOpen Targets
0.10Weak
hyperlipidemiaOpen Targets
0.10Suggestive
metabolic diseaseOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.06Suggestive
parasitic infectionOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
HerniaOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.04Suggestive
Hiatus herniaOpen Targets
0.04Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
gastroesophageal reflux diseaseOpen Targets
0.03Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CEP162Shared pathway100%CEP164Shared pathway100%POC1AShared pathway100%CFAP263Shared pathway100%TMEM138Shared pathway100%ELMOD1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
68%
Lung
36%
Ovary
31%
Bone Marrow
15%
Liver
15%
Gene Interaction Network
Click a node to explore
PTPDC1CEP162CEP164POC1ACFAP263TMEM138ELMOD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A2A3K4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.50–0.84]
RankingsWhere PTPDC1 stands among ~20K protein-coding genes
  • #14,236of 20,598
    Most Researched20
  • #7,202of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedPTPDC1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
The plasma peptides of breast versus ovarian cancer.
PMID: 31889940
Clin Proteomics Β· 2019
1.00
2
A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.
PMID: 26227905
Mol Neurobiol Β· 2016
0.67
3
Circ-PTPDC1 promotes the Progression of Gastric Cancer through Sponging Mir-139-3p by Regulating ELK1 and Functions as a Prognostic Biomarker.
PMID: 34803498
Int J Biol Sci Β· 2021
0.33