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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHACTR2
phosphatase and actin regulator 2
Chromosome 6 · 6q24.2
NCBI Gene: 9749Ensembl: ENSG00000112419.15HGNC: HGNC:20956UniProt: J3KP75
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactin bindingactin cytoskeleton organizationplasma membraneatrial fibrillationadolescent idiopathic scoliosiscardiac transplantmultinodular goiter
✦AI Summary

PHACTR2 (phosphatase and actin regulator 2) is located on chromosome 6 and functions in protein binding and actin cytoskeleton organization, with localization to plasma membrane and platelet alpha granule membrane. The gene shows partial imprinting with skewed allelic expression in a parent-specific manner in human placenta, suggesting genomic regulation similar to its neighbor PLAGL1 1. PHACTR2 genetic variants have been investigated as potential biomarkers for various diseases. The rs9390123 polymorphism was identified as part of a nine-protein biomarker combination for assessing systemic lupus erythematosus disease exacerbation 2, though this same variant showed no association with non-small-cell lung cancer risk in Chinese populations 3. Another variant (rs11155313) demonstrated association with Parkinson's disease risk across multiple populations with combined odds ratio of 1.30 4. The PHACTR2-AS1 antisense RNA plays a crucial regulatory role, functioning as a tumor suppressor by maintaining ribosomal DNA stability through H3K9 methylation, with its downregulation promoting breast cancer growth and metastasis 5. However, PHACTR2-AS1 paradoxically promotes tongue squamous cell carcinoma metastasis through miR-137/Snail pathway regulation 6. Additionally, NFIB::PHACTR2 fusion has been identified as a novel translocation in adenoid cystic carcinoma 7.

Sources cited
1
PHACTR2 shows partial imprinting with skewed allelic expression in human placenta and is adjacent to imprinted PLAGL1 gene
PMID: 20403199
2
PHACTR2 rs9390123 variant is part of nine-protein biomarker combination for assessing systemic lupus erythematosus disease exacerbation
PMID: 36524113
3
PHACTR2 rs9390123 polymorphism shows no association with non-small-cell lung cancer risk in Chinese population
PMID: 25399010
4
PHACTR2 rs11155313 variant shows association with Parkinson's disease risk across multiple populations
PMID: 19429005
5
PHACTR2-AS1 functions as tumor suppressor maintaining ribosomal DNA stability through H3K9 methylation
PMID: 32312833
6
PHACTR2-AS1 promotes tongue squamous cell carcinoma metastasis via miR-137/Snail pathway
PMID: 32702100
7
NFIB::PHACTR2 fusion identified as novel translocation in adenoid cystic carcinoma
PMID: 40257526
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.40Weak
adolescent idiopathic scoliosisOpen Targets
0.32Weak
cardiac transplantOpen Targets
0.27Weak
multinodular goiterOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.25Weak
anaphylaxisOpen Targets
0.22Weak
inflammatory bowel diseaseOpen Targets
0.08Suggestive
asthmaOpen Targets
0.06Suggestive
chronic rhinosinusitisOpen Targets
0.05Suggestive
multiple sclerosisOpen Targets
0.05Suggestive
major salivary gland cancerOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
pituitary cancerOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.02Suggestive
Precordial painOpen Targets
0.02Suggestive
age-related macular degenerationOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FLNBShared pathway100%SPTAN1Shared pathway100%ACAP1Shared pathway100%SMTNL2Shared pathway100%THSD7AShared pathway100%PHACTR3Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Lung
61%
Bone Marrow
45%
Ovary
32%
Liver
27%
Brain
25%
Gene Interaction Network
Click a node to explore
PHACTR2FLNBSPTAN1ACAP1SMTNL2THSD7APHACTR3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75167
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.31Tolerant
Observed/Expected LoF0.41 [0.28–0.60]
RankingsWhere PHACTR2 stands among ~20K protein-coding genes
  • #10,669of 20,598
    Most Researched37
  • #4,099of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedPHACTR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Combined proteomics and single cell RNA-sequencing analysis to identify biomarkers of disease diagnosis and disease exacerbation for systemic lupus erythematosus.
PMID: 36524113
Front Immunol · 2022
1.00
2
Association between polymorphisms in CHRNA3 and PHACTR2 gene and environment and NSCLC risk in Chinese population.
PMID: 25399010
Acta Biochim Pol · 2014
0.90
3
The EZH2-PHACTR2-AS1-Ribosome Axis induces Genomic Instability and Promotes Growth and Metastasis in Breast Cancer.
PMID: 32312833
Cancer Res · 2020
0.80
4
Phactr2 and Parkinson's disease.
PMID: 19429005
Neurosci Lett · 2009
0.70
5
rs9390123 and rs9399451 influence the DNA repair capacity of lung cancer by regulating
PMID: 35059740
Oncol Rep · 2022
0.60