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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. EPAS1, Endothelial PAS domain protein 1
Sequence ID:NM_001430
RefSeqGene ID:NG_016000
Entrez Gene ID:2034
Ensembl ID:ENSG00000116016

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
ERYTHROCYTOSIS, FAMILIAL, 4 

Cytogenetic Location (from UniGene)

Cytogenetic Location:2p21-p16Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 46612593 - 46613836

 Exon Info From UCSC:
NM_001430

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
6305604Full LengthBC051338endothelial PAS domain protein 1
4701520IncompleteBC015869endothelial PAS domain protein 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001421  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001430 NP_001421 Q99814 PAS_3

Related Sequences

 
mRNAGenPeptSwissProt
U81984 AAB41495 Q99814
U51626 AAC51212 Q99814
BC051338 AAH51338 Q99814
AK123845 BAG53969 B3KW07

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens EPAS1 NP_001421 M.musculus Epas1 13819 Gene Info NP_034267 88
R.norvegicus Epas1 29452   NP_075578 87
A.gambiae AgaP_AGAP002941 1273024   XP_311962 44

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

NCI-Nature Pathway Interaction Database