PTPDC1
Protein Tyrosine Phosphatase Domain Containing 1
Gene Information Card
| Symbol | PTPDC1 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 56670 ncbi.nlm.nih.gov/gene/56670 |
| Ensembl ID | ENSG00000106868 |
| UniProt ID | Q8N3J3 |
| OMIM ID | 617543 |
| HGNC ID | 24984 |
| Aliases | PTPDC1, PTPDC, PTPN21L |
Description
PTPDC1 encodes a protein containing a protein tyrosine phosphatase (PTP) domain. The encoded protein may function in cellular signaling processes, though its specific biological roles are not fully characterized. The gene is located on chromosome 9q22.33 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Predicted loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations predicted to cause premature truncation and loss of phosphatase activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • dephosphorylation |
| • cytoplasm |
Pathways
• No known pathway associations
Protein Summary
PTPDC1 is a 1,045-amino-acid protein containing a single PTP domain. Its molecular function is predicted to involve dephosphorylation of phosphotyrosine residues, but specific substrates and cellular roles remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPDC1 Knockout HEK293 Cell Line | EDJ-KQ2322 | Human | 138639 | Details Get a Quote |
| PTPDC1 Knockout HeLa Cell Line | EDJ-KQ21387 | Human | 138639 | Details Get a Quote |
| PTPDC1 Knockout A-549 Cell Line | EDJ-KQ22711 | Human | 138639 | Details Get a Quote |
| PTPDC1 Knockout HCT 116 Cell Line | EDJ-KQ22712 | Human | 138639 | Details Get a Quote |
