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Protein Coding Gene : Epas1 endothelial PAS domain protein 1

Primary Identifier  MGI:109169 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  13819
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein heterodimerization activity. Involved in mRNA transcription by RNA polymerase II; myoblast fate commitment; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including multicellular organismal-level iron ion homeostasis; norepinephrine metabolic process; and surfactant homeostasis. Located in cytoplasm and nuclear speck. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and respiratory system. Used to study newborn respiratory distress syndrome. Human ortholog(s) of this gene implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Orthologous to human EPAS1 (endothelial PAS domain protein 1).
PHENOTYPE: Mice homozygous for null mutations display prenatal, neonatal or postnatal lethality. For some alleles lethality is associated with vascular abnormalities. Temporally restricted overexpression in intestinal epithelium leads to increased susceptibility to DSS-induced colitis morbidity. [provided by MGI curators]
  • synonyms:
  • HLF,
  • Epas1,
  • bHLHe73,
  • hypoxia inducible transcription factor 2alpha,
  • HIF-2alpha,
  • MOP2,
  • Hif like protein,
  • MGD-MRK-38213,
  • HRF,
  • endothelial PAS domain protein 1,
  • HIF2A

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

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0 Transcripts

0 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

8 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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0 Driver For