The 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 AAT6, MYMY5, 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 104
Unique public DNA variants reported 83
Individuals with public variants 22
Hidden variants 88
Download all this gene's data Download all data
Date created January 13, 2011
Date last updated April 19, 2024
Version ACTA2:240419

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 http://www.LOVD.nl/ACTA2
HGNC 130
Entrez Gene 59
PubMed articles ACTA2
OMIM - Gene 102620
OMIM - Diseases AAT6 (aneurysm, aortic, thoracic, familial, type 6 (AAT6))
MYMY5 (moyamoya disease, type 5 (MYMY-5))
Multisystemic smooth muscle dysfunction syndrome
HGMD ACTA2
GeneCards ACTA2
GeneTests ACTA2
Orphanet ACTA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002014 10 transcript variant 2 NM_001613.2 NP_001604.1 104


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