PNMA2: Paraneoplastic Antigen MA2
A neuronal protein associated with paraneoplastic neurological disorders and cancer-testis antigen expression.
Gene Information Card
| Symbol | PNMA2 |
|---|---|
| Full Name | Paraneoplastic Antigen MA2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 10687 ncbi.nlm.nih.gov/gene/10687 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q9P2E8 |
| OMIM ID | 603300 |
| HGNC ID | 9158 |
| Aliases | MA2, MGC26594 |
Description
PNMA2 encodes a member of the paraneoplastic antigen family, specifically the MA2 antigen. This protein is normally expressed in neurons and is targeted by autoantibodies in patients with paraneoplastic neurological disorders, often associated with testicular germ cell tumors. It functions as a cancer-testis antigen with restricted expression in normal tissues but aberrant expression in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraneoplastic neurological disorders | Autoantibodies against PNMA2 (anti-Ma2) target neuronal proteins, leading to immune-mediated neurological symptoms. | ClinVar, OMIM |
| Testicular germ cell tumors | PNMA2 is aberrantly expressed in testicular tumors, triggering an immune response that cross-reacts with neurons. | NCBI Gene, OMIM |
| Breast cancer | PNMA2 expression has been detected in breast cancer tissues, potentially as a tumor antigen. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Breast | 1.2 | Not detected |
| Lung | 0.8 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal cell line |
| NTERA-2 (testicular embryonal carcinoma) | 22.1 | Germ cell tumor line |
| MCF7 (breast cancer) | 3.4 | Low expression |
| A549 (lung cancer) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.1% | Likely loss of start codon; effect unknown |
| c.245C>T (p.Pro82Leu) | Missense | <0.1% | Rare variant; clinical significance uncertain |
| c.568G>A (p.Glu190Lys) | Missense | <0.1% | Reported in COSMIC; somatic in cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PNMA2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • molecular_function (not characterized) (GO:0003674) |
Pathways
• No specific pathways curated for PNMA2 in major databases.
Protein Summary
PNMA2 is a 364-amino acid protein with a molecular weight of approximately 40 kDa. It is localized to the cytoplasm and nucleus in neurons. The protein contains a conserved PNMA domain of unknown function. It is recognized as a cancer-testis antigen, with expression normally restricted to testis and brain, but aberrantly expressed in various tumors, particularly testicular germ cell tumors. Autoantibodies against PNMA2 are associated with paraneoplastic limbic encephalitis and other neurological syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNMA2 Knockout HEK293 Cell Line | EDJ-KQ7131 | Human | 10687 | Details Get a Quote |
| PNMA2 Knockout A-549 Cell Line | EDJ-KQ32013 | Human | 10687 | Details Get a Quote |
| PNMA2 Knockout HeLa Cell Line | EDJ-KQ32014 | Human | 10687 | Details Get a Quote |
| PNMA2 Knockout HCT 116 Cell Line | EDJ-KQ72405 | Human | 10687 | Details Get a Quote |
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