EPAS1

GENERAL INFORMATION

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Gene name

EPAS1

Gene description

Endothelial PAS domain protein 1

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate cytoplasmic positivity with additional membranous staining in gastrointestinal tract.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB012248
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

EPAS1 (HGNC Symbol)

Synonyms

bHLHe73, HIF2A, HLF, MOP2, PASD2

Description

Endothelial PAS domain protein 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

2

Cytoband

p21

Chromosome location (bp)

46293667 - 46386703

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116016 (version 78.38)

Entrez gene

2034

UniProt

Q99814 (UniProt - Evidence at protein level)

neXtProt

NX_Q99814

Antibodypedia

EPAS1 antibodies


PROTEIN BROWSER

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ENST00000263734
 
ENST00000449347
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EPAS1-001 ENSP00000263734
ENST00000263734
Q99814
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Show » Show » 870 96.5 No 0
EPAS1-007 ENSP00000406137
ENST00000449347
C9J9N2
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Show » Show » 259 29.6 No 0