PALM3 (Paralemmin 3)
A gene encoding a member of the paralemmin protein family, involved in plasma membrane dynamics and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | PALM3 |
|---|---|
| Full Name | Paralemmin 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 342918 ncbi.nlm.nih.gov/gene/342918 |
| Ensembl ID | ENSG00000188313 |
| UniProt ID | Q8N8Q9 |
| OMIM ID | 616433 |
| HGNC ID | 33721 |
| Aliases | C19orf56, FLJ25333, PALM3 |
Description
PALM3 (paralemmin 3) is a protein-coding gene located on chromosome 19q13.33. It encodes a member of the paralemmin protein family, which is characterized by a conserved paralemmin domain. Paralemmin proteins are implicated in plasma membrane dynamics, including cell shape regulation and membrane trafficking. PALM3 is expressed in various tissues and has been associated with certain cancers and neurological conditions, though its precise functions are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in cell proliferation and migration; altered expression observed in tumor tissues. | NCBI Gene, COSMIC |
| Colorectal cancer | Mutations and expression changes reported; may influence tumor progression. | COSMIC, ClinVar |
| Schizophrenia | Genetic variants associated with increased risk in some populations. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 4.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.1 | Embryonic kidney cells |
| HeLa | 3.5 | Cervical cancer cells |
| MCF7 | 5.8 | Breast cancer cells |
| HepG2 | 2.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.01% | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | 0.005% | Reported in colorectal cancer |
| c.523_524insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for PALM3.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane | • cytoplasm |
| • cell projection | • membrane |
Pathways
• No curated pathways available
Protein Summary
PALM3 encodes a 246-amino acid protein with a paralemmin domain. It localizes to the plasma membrane and is involved in membrane dynamics, potentially influencing cell morphology and signaling. Expression is detected in brain, testis, and some cancer cell lines. Mutations are rare but have been linked to colorectal cancer and schizophrenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PALM3 Knockout HEK293 Cell Line | EDJ-KQ14670 | Human | 342979 | Details Get a Quote |
| PALM3 Knockout A-549 Cell Line | EDJ-KQ44956 | Human | 342979 | Details Get a Quote |
| PALM3 Knockout HCT 116 Cell Line | EDJ-KQ44957 | Human | 342979 | Details Get a Quote |
| PALM3 Knockout HeLa Cell Line | EDJ-KQ59741 | Human | 342979 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
