EPAS1 endothelial PAS domain protein 1
Gene ID: 2034, updated on 10-Oct-2024Gene type: protein coding
Also known as: HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73
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- Go to complete Gene record for EPAS1
- Go to Variation Viewer for EPAS1 variants
Summary
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
Associated conditions
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| Description | Tests |
|---|---|
| Erythrocytosis, familial, 4 | See labs |
| Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 2p21
- Sequence:
- Chromosome: 2; NC_000002.12 (46297407..46386697)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EPAS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EPAS1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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