PNMA8A Gene: Structure, Function, and Clinical Relevance
A comprehensive overview of the PNMA8A gene, including its genomic context, expression patterns, and potential disease associations.
Gene Information Card
| Symbol | PNMA8A |
|---|---|
| Full Name | PNMA family member 8A |
| Gene Type | protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 84927 ncbi.nlm.nih.gov/gene/84927 |
| Ensembl ID | ENSG00000137801 |
| UniProt ID | Q8NAV1 |
| OMIM ID | 616400 |
| HGNC ID | 30083 |
| Aliases | FLJ32771, MGC138499 |
Description
PNMA8A (PNMA family member 8A) is a protein-coding gene located on chromosome 15q24.1. It encodes a protein that belongs to the paraneoplastic antigen (PNMA) family, which is characterized by expression in normal tissues and aberrant expression in certain tumors. The exact function of PNMA8A is not fully characterized, but it is implicated in autoimmune paraneoplastic neurological syndromes, where the immune system mistakenly attacks normal tissues expressing the protein. The gene is expressed in various tissues, with notable levels in the brain and testis. Mutations and altered expression of PNMA8A have been studied in the context of cancer and neurological disorders, though its clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraneoplastic neurological syndromes | Autoimmune response against PNMA8A expressed in tumors cross-reacts with normal tissues, particularly neurons. | Evidence from case reports and serological studies; PNMA family proteins are known onconeural antigens (UniProt, OMIM). |
| Cancer (various types) | Aberrant expression of PNMA8A in tumors may trigger immune response; potential role in tumor progression. | Expression data from COSMIC and literature; not fully established. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.5 | Low |
| Lung | 3.2 | Low |
| Liver | 1.1 | Not detected |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.4 | Moderate expression |
| HeLa | 2.1 | Low expression |
| A549 | 1.5 | Low expression |
| MCF7 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | Rare (<0.1%) | Potential impact on protein stability; clinical significance unknown |
| c.456delA (p.Lys152fs) | Frameshift | Very rare | Predicted loss of function; not associated with disease in current databases |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, but no disease phenotype has been established.
Gain of Function (GOF)
No evidence for gain-of-function mutations in PNMA8A.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function: protein binding (GO:0005515) | • biological_process: immune response (GO:0006955) |
| • cellular_component: cytoplasm (GO:0005737) |
Pathways
• No specific pathways are curated for PNMA8A in major databases.
Protein Summary
The PNMA8A protein is a member of the paraneoplastic antigen family. It is a cytoplasmic protein with potential roles in immune response. The protein sequence contains a conserved domain of unknown function (DUF) that is characteristic of the PNMA family. Its expression in normal tissues is limited, but it is upregulated in certain tumors, leading to an autoimmune response in some patients. The exact molecular function remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNMA8A Knockout HEK293 Cell Line | EDJ-KQ14819 | Human | 55228 | Details Get a Quote |
| PNMA8A Knockout A-549 Cell Line | EDJ-KQ45250 | Human | 55228 | Details Get a Quote |
| PNMA8A Knockout HeLa Cell Line | EDJ-KQ56559 | Human | 55228 | Details Get a Quote |
| PNMA8A Knockout HCT 116 Cell Line | EDJ-KQ73499 | Human | 55228 | Details Get a Quote |
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