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Protein Coding Gene : Acta2 actin alpha 2, smooth muscle, aorta

Primary Identifier  MGI:87909 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  11475
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables protein kinase binding activity. Acts upstream of or within regulation of blood pressure and vascular associated smooth muscle contraction. Located in actin cytoskeleton; motile cilium; and smooth muscle contractile fiber. Is expressed in several structures, including alimentary system; cardiovascular system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in Moyamoya disease and thoracic aortic aneurysm. Orthologous to human ACTA2 (actin alpha 2, smooth muscle).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function. [provided by MGI curators]
  • synonyms:
  • a-SMA,
  • Actvs,
  • MGI:1915627,
  • 0610041G09Rik,
  • alphaSMA,
  • actin, alpha, vascular smooth muscle,
  • RIKEN cDNA 0610041G09 gene,
  • SMAalpha,
  • Acta2,
  • MGD-MRK-1095,
  • actin alpha 2, smooth muscle, aorta,
  • SMalphaA

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

2 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

7 Driver For