Homo sapiens Gene: ACTA2
Summary
InnateDB Gene IDBG-81614.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACTA2
Gene Name actin, alpha 2, smooth muscle, aorta
Synonyms AAT6; ACTSA; MYMY5;
Species Homo sapiens
Ensembl Gene ENSG00000107796
Encoded Proteins
actin, alpha 2, smooth muscle, aorta
actin, alpha 2, smooth muscle, aorta
actin, alpha 2, smooth muscle, aorta
actin, alpha 2, smooth muscle, aorta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:88935074-88991390
Strand Reverse strand
Band q23.31
Transcripts
ENST00000224784 ENSP00000224784
ENST00000458208 ENSP00000402373
ENST00000415557 ENSP00000396730
ENST00000458159 ENSP00000398239
ENST00000480297
ENST00000488967
ENST00000482085
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 70 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 70 [view]
Protein-Protein 67 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0019901 protein kinase binding
Biological Process
GO:0006936 muscle contraction
GO:0008217 regulation of blood pressure
GO:0009615 response to virus
GO:0014829 vascular smooth muscle contraction
GO:0072144 glomerular mesangial cell development
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0015629 actin cytoskeleton
GO:0030485 smooth muscle contractile fiber
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
EGFR1 pathway
REACTOME
Smooth Muscle Contraction pathway
Muscle contraction pathway
KEGG
Vascular smooth muscle contraction pathway
INOH
PID BIOCARTA
PID NCI
PDGFR-beta signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.500483 Hs.635256
RefSeq NM_001141945 NM_001613
HUGO
OMIM
CCDS CCDS7392
HPRD 00031
IMGT
EMBL
GenPept
RNA Seq Atlas