PHACTR1 phosphatase and actin regulator 1
Gene ID: 221692, updated on 3-Apr-2024Gene type: protein coding
Also known as: RPEL; DEE70; RPEL1; EIEE70; dJ257A7.2
- See all available tests in GTR for this gene
- Go to complete Gene record for PHACTR1
- Go to Variation Viewer for PHACTR1 variants
Summary
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease. GeneReviews: Not available | |
| A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. GeneReviews: Not available | |
| Developmental and epileptic encephalopathy, 70 | not available |
| Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
| Genome-wide association analysis identifies susceptibility loci for migraine without aura. GeneReviews: Not available | |
| Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. GeneReviews: Not available | |
| Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. GeneReviews: Not available | |
| Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. GeneReviews: Not available | |
| Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Genome-wide association with bone mass and geometry in the Framingham Heart Study. GeneReviews: Not available | |
| Genome-wide linkage and association scans for pulse pressure in Chinese twins. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available |
Genomic context
- Location:
- 6p24.1
- Sequence:
- Chromosome: 6; NC_000006.12 (12716767..13287837)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PHACTR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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