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Protein Coding Gene : Rfx5 regulatory factor X, 5 (influences HLA class II expression)

Primary Identifier  MGI:1858421 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  53970
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including branchial arch; eye; genitourinary system; heart; and nervous system. Human ortholog(s) of this gene implicated in MHC class II deficiency and severe combined immunodeficiency. Orthologous to human RFX5 (regulatory factor X5).
PHENOTYPE: Homozygous null mice have absent or decreased expression of MHC-II complexes on antigen presenting cells, which leads to reduced numbers of CD4+ thymocytes and T cells. [provided by MGI curators]
  • synonyms:
  • regulatory factor X, 5 (influences HLA class II expression),
  • Rfx5

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Genome

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2 Involved In Mutations

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Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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