EPAS1

Chr 2p21

endothelial PAS domain protein 1

Aliases:: MOP2, PASD2, HIF2A, HLF, bHLHe73
MANE:: ENST00000263734.5

OMIM: 603349 ↗NCBI: 2034 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

EPAS1 · Q99814

v62025-08-01

Predicted Aligned Error matrix for EPAS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.6/ 100

Low

870 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)6%
Low(50–70)12%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary Erythrocytosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited phaeochromocytoma and paraganglioma excluding NF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

erythrocytosis, familial, 4
0.75
renal cell carcinoma
0.65
clear cell renal carcinoma
0.53
autosomal dominant secondary polycythemia
0.52
von Hippel-Lindau disease
0.51
paraganglioma
0.48
neoplasm
0.46
hemangioblastoma
0.44
atrial fibrillation
0.44
pancreatic neuroendocrine tumor
0.44

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Endothelial PAS domain-containing protein 1

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. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity)

Curated MONDO disease pages that list EPAS1 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with EPAS1