PCMTD2: Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain-Containing Protein 2
A gene encoding a putative protein repair methyltransferase involved in cellular stress response and potential tumor suppression.
Gene Information Card
| Symbol | PCMTD2 |
|---|---|
| Full Name | Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain Containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 55251 ncbi.nlm.nih.gov/gene/55251 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y3B3 |
| OMIM ID | 618455 |
| HGNC ID | 30483 |
| Aliases | PCMT2, FLJ20643, MGC138290 |
Description
PCMTD2 encodes a protein containing a methyltransferase domain homologous to protein-L-isoaspartate (D-aspartate) O-methyltransferases (PIMTs). These enzymes catalyze the repair of damaged proteins by methylating abnormal isoaspartyl and D-aspartyl residues, thereby preventing protein aggregation and maintaining cellular homeostasis. PCMTD2 is widely expressed and implicated in stress responses, aging, and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PCMTD2 downregulation may impair protein repair, leading to accumulation of damaged proteins and genomic instability. | COSMIC; TCGA expression data |
| Colorectal cancer | Reduced PCMTD2 expression correlates with poor prognosis; potential tumor suppressor role. | NCBI Gene; PubMed |
| Neurodegenerative disorders | Putative role in preventing protein aggregation; isoaspartate accumulation linked to Alzheimer's and Parkinson's. | UniProt; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney; high expression |
| HeLa | 7.8 | Cervical cancer; moderate expression |
| MCF7 | 6.5 | Breast cancer; moderate expression |
| HepG2 | 4.3 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Thr146Met) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.1024G>A (p.Val342Ile) | Missense | <0.01% | Unknown; predicted tolerated |
| c.1567_1568insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely impairing methyltransferase activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein-L-isoaspartate (D-aspartate) O-methyltransferase activity | • methylation |
| • protein repair | • cytoplasm |
| • nucleus |
Pathways
• Protein repair (Reactome: R-HSA-6798695)
• Cellular response to stress
Protein Summary
PCMTD2 is a 337-amino acid protein with a conserved methyltransferase domain. It catalyzes the transfer of a methyl group from S-adenosylmethionine to abnormal isoaspartyl residues, facilitating their conversion to normal aspartyl residues. This repair mechanism is critical for maintaining protein integrity under stress and aging. The protein localizes to both cytoplasm and nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCMTD2 Knockout HEK293 Cell Line | EDJ-KQ14706 | Human | 55251 | Details Get a Quote |
| PCMTD2 Knockout A-549 Cell Line | EDJ-KQ45023 | Human | 55251 | Details Get a Quote |
| PCMTD2 Knockout HCT 116 Cell Line | EDJ-KQ45024 | Human | 55251 | Details Get a Quote |
| PCMTD2 Knockout HeLa Cell Line | EDJ-KQ45025 | Human | 55251 | Details Get a Quote |
