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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PALM2AKAP2
PALM2 and AKAP2 fusion
Chromosome 9 · 9q31.3
NCBI Gene: 445815Ensembl: ENSG00000157654.20HGNC: HGNC:33529UniProt: Q9Y2D5
115PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membraneregulation of cell shapemembraneAbnormality of the skeletal systemhypertensionlymphatic system diseasevein disorder
✦AI Summary

PALM2AKAP2 is a fusion protein located on chromosome 9 that functions as a scaffolding protein for protein kinase A signaling. The protein binds to the regulatory subunit (RII) of PKA and modulates actin cytoskeleton structure, suggesting roles in establishing polarity in signaling systems and integrating PKA-RII isoforms with downstream effectors to capture and focus cAMP-mediated signals. PALM2AKAP2 localizes to the plasma membrane and exhibits protein-binding capacity 1. Regarding disease relevance, PALM2AKAP2 expression is regulated by TGF-β signaling in triple negative breast cancer, with expression upregulation predicted to be controlled by miR-1275 downregulation 2. In primary Sjögren's syndrome, alternative splicing events in PALM2AKAP2 significantly correlate with disease severity and laboratory indicators, suggesting potential biomarker utility 3. Additionally, PALM2AKAP2 was identified as a potential biomarker for response to MS-275, a histone deacetylase inhibitor, showing upregulation in responsive colon cancer models 4. Clinically, PALM2AKAP2 was identified as a novel locus influencing height variation in Korean populations 1, and a 9q31.2 microdeletion near PALM2AKAP2 was documented in Kallmann syndrome cases, though the deletion did not suppress PALM2AKAP2 expression 5. These findings indicate PALM2AKAP2's involvement in multiple physiological and pathological processes.

Sources cited
1
PALM2AKAP2 expression is upregulated in response to TGF-β1 activation in triple negative breast cancer and is predicted to be regulated by miR-1275
PMID: 34326372
2
Alternative splicing in PALM2AKAP2 is significantly associated with disease severity and laboratory indicators in primary Sjögren's syndrome
PMID: 41651246
3
PALM2AKAP2 is upregulated in all MS-275 responder colon cancer models and downregulated or unchanged in non-responder models, serving as a potential biomarker
PMID: 19724929
4
PALM2AKAP2 locus was newly identified in Koreans as influencing height variation in genome-wide association studies
PMID: 19893584
5
PALM2AKAP2 is a KS candidate gene locus located 1.8 Mb downstream of a 9q31.2 microdeletion in Kallmann syndrome patients
PMID: 33909591
6
PALM2AKAP2 protein was identified as interacting with PS1TP5 protein in yeast two-hybrid screening, suggesting involvement in signal transduction and immunoregulation
PMID: 17134587
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.46Moderate
hypertensionOpen Targets
0.45Moderate
lymphatic system diseaseOpen Targets
0.34Weak
vein disorderOpen Targets
0.34Weak
glaucomaOpen Targets
0.34Weak
ovarian dysfunctionOpen Targets
0.34Weak
COVID-19Open Targets
0.34Weak
myopiaOpen Targets
0.34Weak
open-angle glaucomaOpen Targets
0.33Weak
Abnormality of refractionOpen Targets
0.32Weak
Increased blood pressureOpen Targets
0.32Weak
amyloidosisOpen Targets
0.31Weak
Varicose veinsOpen Targets
0.31Weak
preeclampsiaOpen Targets
0.31Weak
clear cell renal carcinomaOpen Targets
0.30Weak
kidney transplantOpen Targets
0.29Weak
ileostomyOpen Targets
0.28Weak
parasitic infectionOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.27Weak
cardiovascular diseaseOpen Targets
0.27Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PALMDShared pathway100%PRKACBProtein interaction99%PRKACGProtein interaction97%AKAP1Protein interaction93%TBCCD1Shared pathway50%BRWD1Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
28%
Lung
12%
Liver
8%
Ovary
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PALM2AKAP2PALMDPRKACBPRKACGAKAP1TBCCD1BRWD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y2D5
View on AlphaFold ↗
RankingsWhere PALM2AKAP2 stands among ~20K protein-coding genes
  • #4,129of 20,598
    Most Researched115 · top quartile
Genes detectedPALM2AKAP2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Epigenetic regulation of triple negative breast cancer (TNBC) by TGF-β signaling.
PMID: 34326372
Sci Rep · 2021
1.00
2
Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.
PMID: 33909591
Eur J Endocrinol · 2021
0.83
3
Alternative splicing signatures correlate with disease severity and clinical subtypes in primary Sjögren's syndrome.
PMID: 41651246
Genomics · 2026
0.67
4
Identification of 15 loci influencing height in a Korean population.
PMID: 19893584
J Hum Genet · 2010
0.50
5
Screening of genes for proteins interacting with the PS1TP5 protein of hepatitis B virus: probing a human leukocyte cDNA library using the yeast two-hybrid system.
PMID: 17134587
Chin Med J (Engl) · 2006
0.33