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Protein Coding Gene : Runx1 runt related transcription factor 1

Primary Identifier  MGI:99852 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  12394
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables DNA-binding transcription factor activity; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including regulation of alpha-beta T cell differentiation; regulation of gene expression; and response to retinoic acid. Acts upstream of or within several processes, including hair follicle morphogenesis; hemopoiesis; and nervous system development. Located in basement membrane and nucleus. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in acute myeloid leukemia and esophagus squamous cell carcinoma. Orthologous to human RUNX1 (RUNX family transcription factor 1).
PHENOTYPE: Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers. [provided by MGI curators]
  • synonyms:
  • expressed sequence AI462102,
  • runt domain, alpha subunit 2,
  • MGI:2146437,
  • Pebp2a2,
  • AML1,
  • Cbfa2,
  • AI462102,
  • MGD-MRK-33691,
  • Runx1,
  • core binding factor alpha 2,
  • runt related transcription factor 1,
  • MGD-MRK-16643

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

9 Involved In Mutations

0 Strain

0 Transcripts

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

22 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

6 Driver For