ACTA2 gene homepage

General information
Gene symbol ACTA2
Gene name actin, alpha 2, smooth muscle, aorta
Chromosome 10
Chromosomal band q23.31
Imprinted Unknown
Genomic reference NG_011541.1
Transcript reference NM_001613.2
Exon/intron information NM_001613.2 exon/intron table
Associated with diseases AAT-6, MYMY-5, Multisystemic smooth muscle dysfunction syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Jacopo Celli and Alessandra Maugeri
Total number of public variants reported 145
Unique public DNA variants reported 135
Individuals with public variants 7
Hidden variants 9
Download all this gene's data Download all data
Date created January 13, 2011
Date last updated June 29, 2020
Version ACTA2:200629

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001613.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 130
Entrez Gene 59
PubMed articles ACTA2
OMIM - Gene 102620
OMIM - Diseases AAT-6 (aneurysm, aortic, thoracic, familial, type 6 (AAT-6))
MYMY-5 (moyamoya disease, type 5 (MYMY-5))
Multisystemic smooth muscle dysfunction syndrome
GeneCards ACTA2
GeneTests ACTA2

Active transcripts




NCBI ID     

NCBI Protein ID     

00002014 10 transcript variant 2 NM_001613.2 NP_001604.1 145

Copyright & disclaimer
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