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Gene : ACTA2 Homo sapiens

Name  ? actin alpha 2, smooth muscle Cytological Location  10q23.31
Brief Description  actin alpha 2, smooth muscle
Description  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]
  • synonyms:
  • actin, alpha 2, smooth muscle, aorta,
  • NM_001613,
  • X13839,
  • ACTSA,
  • uc001kfq.4,
  • OTTHUMG00000018700,
  • HGNC:130,
  • ACTA2,
  • identifiers:
  • 59,
  • ENSG00000107796,
  • ACTA2

Genome feature

Region: gene ? Length: 56324  
Location: 10:88935074-88991397 reverse strand Cyto location: 10q23.31

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3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

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429 SNPs

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results