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Protein Coding Gene : Xirp2 xin actin-binding repeat containing 2

Primary Identifier  MGI:2685198 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  241431
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables alpha-actinin binding activity. Acts upstream of or within cardiac muscle tissue morphogenesis; cell-cell junction organization; and ventricular septum development. Located in Z disc. Is expressed in heart; inner ear; lung; and skeletal muscle. Human ortholog(s) of this gene implicated in depressive disorder. Orthologous to human XIRP2 (xin actin binding repeat containing 2).
PHENOTYPE: Homozygous null mice exhibit severe growth retardation, abnormal myocardial fiber morphology, failure of intercalated disc maturation, cardiac conduction and ventricular septal defects, altered ionic currents in cardiomyocytes, and postnatal lethality. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 2310003D02 gene,
  • MGI:1916705,
  • RIKEN cDNA A530024P18 gene,
  • MGI:2138966,
  • AI452089,
  • expressed sequence AI452089,
  • MGI:1916775,
  • 2310008C07Rik,
  • Cmya3,
  • 2310003D02Rik,
  • mXin beta,
  • Xirp2,
  • Gm352,
  • RIKEN cDNA 2310008C07 gene,
  • cardiomyopathy associated 3,
  • A530024P18Rik,
  • myomaxin,
  • gene model 352, (NCBI),
  • xin actin-binding repeat containing 2

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1 Involved In Mutations

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