EPAS1 |
Gene Facts External Data Attribution
- HGNC Symbol
- EPAS1 (HGNC:3374) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- endothelial PAS domain protein 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MOP2, PASD2, HIF2A, HLF, bHLHe73
- %HI
- 13.31(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.6(Read more about gnomAD pLI score)
- LOEUF
- 0.38(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:46524546-46613836 NCBI Ensembl UCSC GRCh38/hg38: chr2:46297407-46386697 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001430.5 ENST00000263734.5 (Read more about MANE Select)
- Function
- Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9865
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)