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Gene

epas1b

ID
ZDB-GENE-060607-11
Name
endothelial PAS domain protein 1b
Symbol
epas1b Nomenclature History
Previous Names
  • epas1
  • hif-2a (1)
  • hif-2ab (1)
  • HIF2A (1)
  • wu:fq36f01
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Enables transcription cis-regulatory region binding activity. Acts upstream of or within several processes, including digestive system development; embryonic liver development; and hematopoietic stem cell differentiation. Predicted to be located in nucleus. Is expressed in several structures, including cardiovascular system; digestive system; musculature system; nervous system; and pleuroperitoneal region. 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).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
19 figures from 12 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With epas1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
familial erythrocytosis 4 Alliance Erythrocytosis, familial, 4 611783
Associated With epas1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000014 PAS domain
Domain IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Domain IPR013655 PAS fold-3
Domain IPR013767 PAS fold
Domain IPR014887 HIF-1 alpha, transactivation domain, C-terminal
Family IPR021537 Hypoxia-inducible factor, alpha subunit
Homologous_superfamily IPR035965 PAS domain superfamily
Homologous_superfamily IPR036638 Helix-loop-helix DNA-binding domain superfamily
Repeat IPR001610 PAC motif
Domain Details Per Protein
Protein Length Helix-loop-helix DNA-binding domain superfamily HIF-1 alpha, transactivation domain, C-terminal Hypoxia-inducible factor, alpha subunit Myc-type, basic helix-loop-helix (bHLH) domain PAC motif PAS domain PAS domain superfamily PAS fold PAS fold-3
UniProtKB:A0A2R8QM70 836
UniProtKB:A0A2R8QI31 836
UniProtKB:B3DJD1 834
UniProtKB:Q2EJT3 832
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations