ACTA2
Sign in to saveAlso known as AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle
gen de la especie Homo sapiens
Gene data
ACTA2- Name
- actin alpha 2, smooth muscle
- Type
- protein-coding
- Position
- 88,934,815–88,991,339 (−)
- Aliases
- ACTSA, SMDYS
- Ensembl
- ENSG00000107796
- RefSeq RNA
- NM_001141945.3, NM_001320855.2, NM_001406462.1, NM_001406463.1, NM_001406464.1
- RefSeq protein
- NP_001135417.1, NP_001307784.1, NP_001393391.1, NP_001393392.1, NP_001393393.1
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
actin alpha 2, smooth muscle
- Symbol
- ACTA2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:88,934,815-88,991,339
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein ACTA2 PDB 1atn.png
Show 7 more facts
- HomoloGene ID
- 133938
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/59
- genomic end
- 90751147
- genomic start
- 90694831
- chromosome
- human chromosome 10
- cytogenetic location
- 10q23.31
via Wikidata · CC0
Article · Español
ACTA2 es un gen humano que codifica para la alfa actina 2 situado en el cromosoma 10. Esta isoforma de actina es propia del músculo esquelético y los alelos que disminuyen su función ocasionan un tipo de aneurisma torácico. Existen varias variantes de splicing alternativo. La alfa actina de músculo liso puede emplearse como marcador para evaluar la progresión de la cirrosis hepática.
Abstract from DBpedia / Wikipedia · CC BY-SA