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Protein Coding Gene : Rbpj recombination signal binding protein for immunoglobulin kappa J region

Primary Identifier  MGI:96522 Organism  mouse, laboratory
Chromosome  5 NCBI Gene Number  19664
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in several processes, including circulatory system development; positive regulation of signal transduction; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; epithelial cell differentiation; and regulation of gene expression. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including early conceptus; genitourinary system; neural ectoderm; paraxial mesenchyme; and retina. Used to study aortic valve disease. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome and dilated cardiomyopathy. Orthologous to human RBPJ (recombination signal binding protein for immunoglobulin kappa J region).
PHENOTYPE: Mice homozygous for a null allele exhibit complete prenatal lethality. [provided by MGI curators]
  • synonyms:
  • Igkjrb,
  • Igkrsbp,
  • recombining binding protein suppressor of hairless (Drosophila),
  • expressed sequence AI843960,
  • Igk recombining segment binding protein,
  • Rbpsuh,
  • MGI:2140979,
  • recombination signal binding protein for immunoglobulin kappa J region,
  • CBF1,
  • Rbpj,
  • RBP-J kappa,
  • RBPjk,
  • MGD-MRK-11327,
  • AI843960

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Genome

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0 CDSs

0 Exons

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4 Involved In Mutations

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4 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

10 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

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