PNMA3: Paraneoplastic Ma Antigen Family Member 3
A neuronal protein associated with paraneoplastic neurological disorders and cancer-testis antigen expression.
Gene Information Card
| Symbol | PNMA3 |
|---|---|
| Full Name | Paraneoplastic Ma Antigen Family Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 29944 ncbi.nlm.nih.gov/gene/29944 |
| Ensembl ID | ENSG00000183791 |
| UniProt ID | Q9UL42 |
| OMIM ID | 300465 |
| HGNC ID | HM:300465 |
| Aliases | MA3, PNMA3A, PNMA3B |
Description
PNMA3 encodes a member of the paraneoplastic Ma antigen family. These proteins are normally expressed in the brain and are also aberrantly expressed in certain tumors, where they can trigger an autoimmune response leading to paraneoplastic neurological syndromes. The protein contains a leucine zipper motif and is thought to be involved in neuronal RNA processing or transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraneoplastic neurological syndromes | Autoimmune response against PNMA3 expressed in tumors leads to cross-reactivity with neuronal tissue. | PMID: 10958647; NCBI Gene |
| Testicular germ cell tumors | PNMA3 is a cancer-testis antigen, aberrantly expressed in testicular tumors. | PMID: 10958647; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Other tissues | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 0.0 | Reported expression in some cancer cell lines |
| Other cell lines | 0.0 | No data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Paraneoplastic neurological disorder pathway (Reactome: R-HSA-9620244)
Protein Summary
PNMA3 is a 373-amino acid protein with a leucine zipper domain. It is predominantly expressed in the brain and testis, and its aberrant expression in tumors can trigger an autoimmune response. The exact molecular function remains unclear but may involve RNA binding or transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNMA3 Knockout HEK293 Cell Line | EDJ-KQ9095 | Human | 29944 | Details Get a Quote |
| PNMA3 Knockout HeLa Cell Line | EDJ-KQ56126 | Human | 29944 | Details Get a Quote |
| PNMA3 Knockout A-549 Cell Line | EDJ-KQ64612 | Human | 29944 | Details Get a Quote |
| PNMA3 Knockout HCT 116 Cell Line | EDJ-KQ73065 | Human | 29944 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
