PALM: Paralemmin Gene
Gene encoding a phosphoprotein involved in neuronal development and synaptic plasticity
Gene Information Card
| Symbol | PALM |
|---|---|
| Full Name | Paralemmin |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 5064 ncbi.nlm.nih.gov/gene/5064 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | O75781 |
| OMIM ID | 608934 |
| HGNC ID | 8595 |
| Aliases | KIAA0270, paralemmin |
Description
The PALM gene encodes paralemmin, a phosphoprotein that is lipid-anchored to the plasma membrane and plays a role in neuronal development, dendritic spine formation, and synaptic plasticity. It is predominantly expressed in the brain and is involved in membrane dynamics and cell shape regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered PALM expression may affect synaptic plasticity and neuronal connectivity, contributing to schizophrenia pathophysiology. | PubMed: 20628086 |
| Bipolar Disorder | Variants in PALM have been associated with bipolar disorder in genome-wide association studies. | PubMed: 21926972 |
| Intellectual Disability | Rare copy number variants encompassing PALM have been reported in patients with intellectual disability. | PubMed: 25217958 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 6.2 | Medium |
| Lung | 2.1 | Low |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal cell line, high expression |
| HEK293 | 3.1 | Low expression |
| HeLa | 1.2 | Very low expression |
| K562 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Pro125Leu) | missense | <0.01% | Unknown functional effect |
| c.520G>A (p.Glu174Lys) | missense | <0.01% | Predicted benign |
| c.1A>G (p.Met1Val) | start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss variants (e.g., p.Met1Val) are predicted to cause loss of function by abolishing translation initiation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PALM.
Dominant Negative (DN)
No dominant-negative mutations have been described for PALM.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • chemical synaptic transmission (GO:0007268) |
| • nervous system development (GO:0007399) | • membrane (GO:0016020) |
| • synapse (GO:0045202) | • excitatory synapse (GO:0060076) |
Pathways
• Neuronal System (Reactome: R-HSA-112316)
• Transmission across Chemical Synapses (Reactome: R-HSA-112315)
Protein Summary
Paralemmin is a 387-amino acid phosphoprotein that localizes to the plasma membrane via N-terminal myristoylation and palmitoylation. It is highly expressed in the brain, where it promotes dendritic spine formation and regulates synaptic function. The protein contains a coiled-coil domain and a C-terminal PDZ-binding motif, mediating interactions with cytoskeletal and scaffolding proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PALM Knockout HEK293 Cell Line | EDJ-KQ2026 | Human | 5064 | Details Get a Quote |
| PALM2AKAP2 Knockout HEK293 Cell Line | EDJ-KQ14669 | Human | 445815 | Details Get a Quote |
| PALM3 Knockout HEK293 Cell Line | EDJ-KQ14670 | Human | 342979 | Details Get a Quote |
| PALMD Knockout HEK293 Cell Line | EDJ-KQ14671 | Human | 54873 | Details Get a Quote |
| PALM Knockout A-549 Cell Line | EDJ-KQ22060 | Human | 5064 | Details Get a Quote |
| PALM Knockout HCT 116 Cell Line | EDJ-KQ22061 | Human | 5064 | Details Get a Quote |
| PALM Knockout HeLa Cell Line | EDJ-KQ22062 | Human | 5064 | Details Get a Quote |
| PALM2AKAP2 Knockout HeLa Cell Line | EDJ-KQ43734 | Human | 445815 | Details Get a Quote |
| PALM2AKAP2 Knockout A-549 Cell Line | EDJ-KQ44953 | Human | 445815 | Details Get a Quote |
| PALM2AKAP2 Knockout HCT 116 Cell Line | EDJ-KQ44954 | Human | 445815 | 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 |
| PALMD Knockout A-549 Cell Line | EDJ-KQ44958 | Human | 54873 | Details Get a Quote |
| PALMD Knockout HeLa Cell Line | EDJ-KQ44959 | Human | 54873 | Details Get a Quote |
| PALM3 Knockout HeLa Cell Line | EDJ-KQ59741 | Human | 342979 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
