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Protein Coding Gene : Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Primary Identifier  MGI:88192 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  20586
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables several functions, including ATP hydrolysis activity; DNA polymerase binding activity; and nucleic acid binding activity. Involved in several processes, including positive regulation of Wnt signaling pathway; positive regulation of cold-induced thermogenesis; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including blastocyst development; circulatory system development; and erythrocyte differentiation. Located in male germ cell nucleus and perichromatin fibrils. Part of chromatin. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Used to study breast cancer. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 4; hepatocellular carcinoma; lung non-small cell carcinoma; and rhabdoid cancer. Orthologous to human SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4).
PHENOTYPE: Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects. [provided by MGI curators]
  • synonyms:
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4,
  • b2b692Clo,
  • Mutant line 692,
  • SW1/SNF,
  • Smarca4,
  • b2b508.1Clo,
  • SNF2beta,
  • brahma related gene 1,
  • Mutant line 508, subline 1,
  • MGI:5313994,
  • Brg1,
  • MGD-MRK-1622,
  • MGI:5316763

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