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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, aorta
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:
  • OTTHUMG00000018700,
  • uc001kfq.4,
  • ACTA2,
  • ACTSA,
  • NM_001613,
  • X13839,
  • ACTSA,
  • actin, alpha 2, smooth muscle, aorta,
  • HGNC:130
  • identifiers:
  • 59,
  • ENSG00000107796,
  • ACTA2

Genome feature

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


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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

283 SN Ps

5 Cross References

20 Data Sets

32 Homologues

0 Located Features

90 Rna Seq Results