PALM2AKAP2
PALM2 and AKAP2 fusion gene
Gene Information Card
| Symbol | PALM2AKAP2 |
|---|---|
| Full Name | PALM2 and AKAP2 fusion gene |
| Gene Type | protein-coding (read-through transcript) |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 100526835 ncbi.nlm.nih.gov/gene/100526835 |
| Ensembl ID | ENSG00000267673 |
| UniProt ID | Q9Y2D5 |
| OMIM ID | 604691 |
| HGNC ID | 44217 |
| Aliases | AKAP2, PALM2, AKAP-KL, DKFZp686I10120 |
Description
PALM2AKAP2 is a read-through gene fusion on chromosome 9q31.3 that produces a transcript combining sequences from PALM2 (paralemmin 2) and AKAP2 (A-kinase anchoring protein 2). The encoded protein is predicted to function as an A-kinase anchoring protein, tethering protein kinase A to subcellular compartments, and may also play a role in membrane dynamics via the PALM2-derived domain. Expression is enriched in brain, heart, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Testis | 6.7 | Low |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| HeLa | 4.2 | Cervical carcinoma |
| HEK293 | 3.5 | Embryonic kidney |
| K562 | 1.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • cAMP binding (GO:0030552) |
| • actin filament binding (GO:0051019) |
Pathways
• cAMP/PKA signaling (via AKAP domain)
• Actin cytoskeleton regulation (via PALM2 domain)
Protein Summary
The PALM2AKAP2 protein is a fusion of the N-terminal paralemmin domain (from PALM2) and the C-terminal A-kinase anchoring domain (from AKAP2). It is predicted to localize to the plasma membrane and cytoplasm, where it may anchor PKA and modulate cAMP-dependent signaling. The protein also contains a coiled-coil region and a PDZ domain-binding motif, suggesting roles in scaffolding and signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PALM2AKAP2 Knockout HEK293 Cell Line | EDJ-KQ14669 | Human | 445815 | 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 |
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