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Aliases for HBE1 Gene

Aliases for HBE1 Gene

  • Hemoglobin Subunit Epsilon 1 2 3 5
  • Hemoglobin Subunit Epsilon 3 4
  • Hemoglobin Epsilon Chain 3 4
  • Hemoglobin, Epsilon 1 2 3
  • HBE 3 4
  • Epsilon Globin 3
  • Epsilon-Globin 4

External Ids for HBE1 Gene

Previous GeneCards Identifiers for HBE1 Gene

  • GC11M006037
  • GC11M005591
  • GC11M005249
  • GC11M005214
  • GC11M005233
  • GC11M005247
  • GC11M005289
  • GC11M004949

Summaries for HBE1 Gene

Entrez Gene Summary for HBE1 Gene

  • The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008]

GeneCards Summary for HBE1 Gene

HBE1 (Hemoglobin Subunit Epsilon 1) is a Protein Coding gene. Diseases associated with HBE1 include Hemoglobin E Disease and Hemoglobin C Disease. Among its related pathways are Factors involved in megakaryocyte development and platelet production and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is ENSG00000284931.

UniProtKB/Swiss-Prot for HBE1 Gene

  • The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.

Gene Wiki entry for HBE1 Gene

Additional gene information for HBE1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBE1 Gene

Genomics for HBE1 Gene

GeneHancer (GH) Regulatory Elements for HBE1 Gene

Promoters and enhancers for HBE1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J005504 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 600.7 +0.7 722 2.7 ZFX CC2D1A CBFA2T2 MLLT1 GTF2F1 CSDE1 TRIM24 EGR1 SMARCA4 DPF2 HBE1 OR51B5 HBG2 DNHD1 UBQLNL FAM160A2 OR52D1 ENSG00000239920
GH11J005269 Promoter 0.9 EPDnew 600.1 +235.7 235687 0.1 GTF2F1 HNRNPUL1 PKNOX1 NR2C1 MTA3 POLR2A NR2C2 NCOR1 SUPT5H ZNF592 HBE1 HBBP1 HBD HBB FAM160A2 ENSG00000221031 HBG1 OR51V1 OR51B4 GC11M005288
GH11J005345 Promoter 0.6 EPDnew 600.1 +159.7 159689 0.1 FOSL1 HBE1 OR51B5 OR51B6 OR51B8P HBG2 GC11P005064 ENSG00000239920
GH11J005550 Enhancer 0.8 Ensembl ENCODE 10.5 -45.3 -45260 1.1 SMARCA4 DPF2 FOS FOSL1 CUX1 FOSL2 JUN JUND SMARCE1 OR52H2P HBG2 HBE1 OR51B5 TRIM6 OR52D1 OR51I2 OLFM5P OR52H1 ENSG00000239920
GH11J005248 Promoter/Enhancer 1 Ensembl dbSUPER 5.2 +256.5 256451 1.2 MLLT1 POLR2A NRF1 HDAC1 HBG1 HBG2 HBE1 BGLT3 ENSG00000284931 GC11P005064
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBE1 gene promoter:
  • aMEF-2
  • FOXF2
  • Lmo2
  • MEF-2
  • MEF-2A
  • NF-AT1
  • NF-AT2
  • TBP

Genomic Locations for HBE1 Gene

Genomic Locations for HBE1 Gene
237,308 bases
Minus strand
237,268 bases
Minus strand

Genomic View for HBE1 Gene

Genes around HBE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBE1 Gene

Proteins for HBE1 Gene

  • Protein details for HBE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hemoglobin subunit epsilon
    Protein Accession:
    Secondary Accessions:
    • Q6FH44

    Protein attributes for HBE1 Gene

    147 amino acids
    Molecular mass:
    16203 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two zeta chains and two epsilon chains in early embryonic hemoglobin Gower-1.

    Three dimensional structures from OCA and Proteopedia for HBE1 Gene

neXtProt entry for HBE1 Gene

Post-translational modifications for HBE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HBE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBE1 Gene

Domains & Families for HBE1 Gene

Gene Families for HBE1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HBE1 Gene

Suggested Antigen Peptide Sequences for HBE1 Gene

GenScript: Design optimal peptide antigens:
  • Hemoglobin, epsilon 1 (D9YZU7_HUMAN)
  • Hemoglobin epsilon chain (HBE_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the globin family.
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBE1: view

Function for HBE1 Gene

Molecular function for HBE1 Gene

UniProtKB/Swiss-Prot Function:
The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.
GENATLAS Biochemistry:
hemoglobin,epsilon 1,embryonic

Phenotypes From GWAS Catalog for HBE1 Gene

Gene Ontology (GO) - Molecular Function for HBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 contributes_to peroxidase activity IBA 21873635
GO:0005344 oxygen carrier activity IBA,TAS 21873635
GO:0005515 protein binding IPI,IBA 11159543
GO:0019825 oxygen binding IBA 21873635
GO:0020037 heme binding IBA 21873635
genes like me logo Genes that share ontologies with HBE1: view
genes like me logo Genes that share phenotypes with HBE1: view

Animal Models for HBE1 Gene

MGI Knock Outs for HBE1:

Animal Model Products

CRISPR Products

miRNA for HBE1 Gene

miRTarBase miRNAs that target HBE1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBE1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HBE1 Gene

Localization for HBE1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBE1 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex IBA 21873635
GO:0031838 haptoglobin-hemoglobin complex IBA 21873635
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with HBE1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBE1 Gene

Pathways & Interactions for HBE1 Gene

genes like me logo Genes that share pathways with HBE1: view

Pathways by source for HBE1 Gene

SIGNOR curated interactions for HBE1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation TAS --
GO:0014070 response to organic cyclic compound IEA --
GO:0015671 oxygen transport IEA --
GO:0042744 hydrogen peroxide catabolic process IBA 21873635
GO:0051291 protein heterooligomerization IEA,IBA --
genes like me logo Genes that share ontologies with HBE1: view

Drugs & Compounds for HBE1 Gene

(2) Drugs for HBE1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with HBE1: view

Transcripts for HBE1 Gene

mRNA/cDNA for HBE1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for HBE1 Gene

Hemoglobin, epsilon 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBE1

Alternative Splicing Database (ASD) splice patterns (SP) for HBE1 Gene

No ASD Table

Relevant External Links for HBE1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HBE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBE1 Gene

This gene is overexpressed in Whole Blood (x13.5).

Protein differential expression in normal tissues from HIPED for HBE1 Gene

This gene is overexpressed in Brain (37.7) and Urine (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HBE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HBE1 Gene:


SOURCE GeneReport for Unigene cluster for HBE1 Gene:


mRNA Expression by UniProt/SwissProt for HBE1 Gene:

Tissue specificity: Red blood cells.

Evidence on tissue expression from TISSUES for HBE1 Gene

  • Lung(4.5)
  • Spleen(3.7)
  • Liver(3.4)
  • Blood(3.1)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with HBE1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HBE1 Gene

Orthologs for HBE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBE1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HBE1 35 34
  • 100 (n)
(Bos Taurus)
Mammalia -- 35
  • 90 (a)
HBE4 34
  • 78.91 (n)
-- 35
  • 70 (a)
(Canis familiaris)
Mammalia LOC485255 34
  • 82.77 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
(Mus musculus)
Mammalia Hbb-y 35
  • 81 (a)
Hbb-bh1 17 34
  • 79.82 (n)
(Rattus norvegicus)
Mammalia Hbg1 34
  • 79.14 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 79 (a)
(Gallus gallus)
Aves HBG2 34
  • 75.96 (n)
HBB 35
  • 75 (a)
HBG1 35
  • 74 (a)
HBE 35
  • 72 (a)
HBE1 35
  • 71 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
(Danio rerio)
Actinopterygii zgc:92880 35 34
  • 62.79 (n)
hbbe2 35
  • 54 (a)
ba1 35
  • 53 (a)
ba1l 35
  • 53 (a)
hbbe3 35
  • 53 (a)
hbbe1.2 35
  • 52 (a)
si:ch211-5k11.12 35
  • 52 (a)
hbbe1.1 35
  • 52 (a)
hbae1 35 35
  • 41 (a)
hbz 35
  • 41 (a)
hbaa1 35 35
  • 41 (a)
si:ch211-5k11.2 35
  • 41 (a)
si:ch211-5k11.6 35
  • 41 (a)
hbae3 35
  • 39 (a)
-- 34
Species where no ortholog for HBE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBE1 Gene

Gene Tree for HBE1 (if available)
Gene Tree for HBE1 (if available)
Evolutionary constrained regions (ECRs) for HBE1: view image

Paralogs for HBE1 Gene

Paralogs for HBE1 Gene

(12) SIMAP similar genes for HBE1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HBE1: view

Variants for HBE1 Gene

Sequence variations from dbSNP and Humsavar for HBE1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000317970 -- 5,270,830(-) C/G upstream_transcript_variant
rs1002984540 -- 5,268,792(-) G/A intron_variant
rs1004253348 -- 5,271,557(-) T/A upstream_transcript_variant
rs1006205784 -- 5,268,155(-) G/T downstream_transcript_variant
rs1006754610 -- 5,269,200(-) C/A/T intron_variant

Variation tolerance for HBE1 Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Human Gene Mutation Database (HGMD)

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HBE1 Gene

Disorders for HBE1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for HBE1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemoglobin e disease
  • hb-e disease
hemoglobin c disease
  • hb-c disease
  • sickle-cell thalassemia with crisis
  • thalassemia, beta
congenital hypogammaglobulinemia
  • congenital hypogammaglobulinaemia
- elite association - COSMIC cancer census association via MalaCards
Search HBE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HBE1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HBE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBE1 Gene

Publications for HBE1 Gene

  1. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 45 58
  2. Lack of association of the HbE variant with protection from cerebral malaria in Thailand. (PMID: 18787944) Naka I … Patarapotikul J (Biochemical genetics 2008) 3 45 58
  3. Linear distance from the locus control region determines epsilon-globin transcriptional activity. (PMID: 17548470) Shimotsuma M … Tanimoto K (Molecular and cellular biology 2007) 3 23 58
  4. Investigations of a human embryonic globin gene silencing element using YAC transgenic mice. (PMID: 16514181) Navas PA … Stamatoyannopoulos G (Experimental biology and medicine (Maywood, N.J.) 2006) 3 23 58
  5. Genomic and phylogenetic footprinting at the epsilon-globin silencer region in intact human cells. (PMID: 15157738) Temple MD … Murray V (Biochimica et biophysica acta 2004) 3 23 58

Products for HBE1 Gene

Sources for HBE1 Gene

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