PALMD Gene - Palmdelphin
Comprehensive genomic and functional overview of PALMD
Gene Information Card
| Symbol | PALMD |
|---|---|
| Full Name | Palmdelphin |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.2 |
| NCBI Gene ID | 54873 ncbi.nlm.nih.gov/gene/54873 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q9NP74 |
| OMIM ID | 614654 |
| HGNC ID | 15882 |
| Aliases | C1orf11, FLJ10305, MGC13170 |
Description
PALMD (palmdelphin) encodes a protein belonging to the paralemmin family, which is involved in cytoskeletal dynamics and cell shape regulation. The gene is located on chromosome 1p21.2 and is expressed in multiple tissues, with highest levels in heart and skeletal muscle. PALMD has been implicated in cardiac development and function, and variants are associated with dilated cardiomyopathy and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Altered protein expression and cytoskeletal disruption | ClinVar, OMIM |
| Breast cancer | Overexpression linked to poor prognosis | COSMIC, PubMed |
| Colorectal cancer | Mutations and copy number alterations | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.2 | High |
| Brain | 3.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.2 | Cervical cancer cell line |
| K562 | 3.8 | Leukemia cell line |
| A549 | 5.1 | Lung cancer cell line |
| HepG2 | 2.9 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | 0.01% | Unknown |
| c.832G>A (p.Glu278Lys) | Missense | 0.005% | Unknown |
| c.1120_1121insA | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of protein function.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
| • actin binding (GO:0003779) | • actin cytoskeleton organization (GO:0030036) |
Pathways
• Cytoskeletal signaling
• Cardiac muscle contraction
Protein Summary
Palmdelphin is a 546-amino acid protein localized to the cytoplasm and plasma membrane. It binds actin and participates in cytoskeletal remodeling, particularly in cardiac and skeletal muscle. The protein contains a conserved paralemmin domain and is involved in cell shape maintenance and signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PALMD Knockout HEK293 Cell Line | EDJ-KQ14671 | Human | 54873 | 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 |
| PALMD Knockout HCT 116 Cell Line | EDJ-KQ73429 | Human | 54873 | Details Get a Quote |
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