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Aliases for HBE1 Gene

Aliases for HBE1 Gene

  • Hemoglobin Subunit Epsilon 1 2 3 5
  • Hemoglobin Epsilon Chain 3 4
  • Hemoglobin, Epsilon 1 2 3
  • HBE 3 4
  • Hemoglobin Subunit Epsilon 3
  • 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 Thalassemia. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBG2.

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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I005269 Promoter 1 EPDnew 550.1 +235.7 235654 0.1 HDAC1 HNRNPUL1 MEIS2 PKNOX1 SMAD1 NFATC3 TAF9B ETV1 POLR2B MTA3 HBE1 FAM160A2 HBBP1 HBD HBB ENSG00000221031 HBG1 OR51V1 OR51B4 TRIM34
GH11I005504 Enhancer 0.9 ENCODE 550.8 +0.5 463 2.2 HDGF PKNOX1 SMAD1 ATF1 ARNT TCF12 POLR2B ZNF766 GATA2 ATF7 ENSG00000167355 HBE1 OR51B5 FAM160A2 DNHD1 TRIM34 UBQLNL OR52D1 HBG2
GH11I005270 Promoter 0.8 EPDnew 550.1 +235.4 235378 0.1 PKNOX1 MTA3 POLR2A NR2C1 ZNF592 HBE1 HBBP1 HBD HBB ENSG00000221031 HBG1 OR51V1 OR51B4 GC11M005280 GC11M005254
GH11I005550 Enhancer 0.8 Ensembl ENCODE 10.5 -45.3 -45295 1.1 SMARCE1 JUN DPF2 FOSL1 JUND SMARCA4 FOS CUX1 FOSL2 OR52H2P HBE1 ENSG00000167355 HBG2 TRIM6 OR52D1 OR51I2 OLFM5P OR52H1
GH11I005476 Enhancer 0.6 ENCODE 0.3 +29.2 29221 0.1 MEIS2 CTCF PKNOX1 ATF1 SOX6 TRIM22 REST RAD21 IKZF1 SMC3 OR51A10P OR52D1 ENSG00000167355 OR51B5 HBE1 HBG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HBE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBE1 gene promoter:

Genomic Locations for HBE1 Gene

Genomic Locations for HBE1 Gene
chr11:5,268,345-5,505,617
(GRCh38/hg38)
Size:
237,273 bases
Orientation:
Minus strand
chr11:5,289,580-5,526,847
(GRCh37/hg19)

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:
    P02100-HBE_HUMAN
    Recommended name:
    Hemoglobin subunit epsilon
    Protein Accession:
    P02100
    Secondary Accessions:
    • Q6FH44

    Protein attributes for HBE1 Gene

    Size:
    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

No Post-translational modifications

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

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

Protein Domains for HBE1 Gene

Suggested Antigen Peptide Sequences for HBE1 Gene

Graphical View of Domain Structure for InterPro Entry

P02100

UniProtKB/Swiss-Prot:

HBE_HUMAN :
  • Belongs to the globin family.
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

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

Phenotypes From GWAS Catalog for HBE1 Gene

Gene Ontology (GO) - Molecular Function for HBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen carrier activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 11159543
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
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

miRNA for HBE1 Gene

miRTarBase miRNAs that target HBE1

Inhibitory RNA Products

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

COMPARTMENTS
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
extracellular 5
cytosol 5
nucleus 3
plasma membrane 1
cytoskeleton 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 TAS,IEA --
GO:0072562 blood microparticle IDA,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

Gene Ontology (GO) - Biological Process for HBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007596 blood coagulation TAS --
GO:0014070 response to organic cyclic compound IEA --
GO:0015671 oxygen transport IEA --
GO:0051291 protein heterooligomerization IEA --
genes like me logo Genes that share ontologies with HBE1: view

No data available for SIGNOR curated interactions for HBE1 Gene

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 where relevant :

Unigene Clusters for HBE1 Gene

Hemoglobin, epsilon 1:
Representative Sequences:

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for HBE1 Gene

GeneLoc Exon Structure for
HBE1
ECgene alternative splicing isoforms for
HBE1

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, PaxDb, MaxQB, and MOPED for HBE1 Gene



NURSA nuclear receptor signaling pathways regulating expression of HBE1 Gene:

HBE1

SOURCE GeneReport for Unigene cluster for HBE1 Gene:

Hs.655195

mRNA Expression by UniProt/SwissProt for HBE1 Gene:

P02100-HBE_HUMAN
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(2.1)
genes like me logo Genes that share expression patterns with HBE1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia HBE1 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 90 (a)
OneToMany
HBE4 33
  • 78.91 (n)
-- 34
  • 70 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC485255 33
  • 82.77 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Hbb-y 34
  • 81 (a)
OneToOne
Hbb-bh1 33 16
  • 79.82 (n)
rat
(Rattus norvegicus)
Mammalia Hbg1 33
  • 79.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves HBG2 33
  • 75.96 (n)
HBB 34
  • 75 (a)
ManyToMany
HBG1 34
  • 74 (a)
ManyToMany
HBE 34
  • 72 (a)
ManyToMany
HBE1 34
  • 71 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii zgc:92880 34 33
  • 62.79 (n)
ManyToMany
hbbe2 34
  • 54 (a)
ManyToMany
hbbe3 34
  • 53 (a)
ManyToMany
ba1l 34
  • 53 (a)
ManyToMany
ba1 34
  • 53 (a)
ManyToMany
hbbe1.1 34
  • 52 (a)
ManyToMany
hbbe1.2 34
  • 52 (a)
ManyToMany
si:ch211-5k11.12 34
  • 52 (a)
ManyToMany
hbaa1 34 34
  • 41 (a)
ManyToMany
hbae1 34 34
  • 41 (a)
ManyToMany
hbz 34
  • 41 (a)
ManyToMany
si:ch211-5k11.2 34
  • 41 (a)
ManyToMany
si:ch211-5k11.6 34
  • 41 (a)
ManyToMany
hbae3 34
  • 39 (a)
ManyToMany
-- 33
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

ENSEMBL:
Gene Tree for HBE1 (if available)
TreeFam:
Gene Tree for HBE1 (if available)

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

Human Gene Mutation Database (HGMD)
HBE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBE1

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
thalassemia
  • sickle-cell thalassemia with crisis
hemoglobin c disease
  • hb-c disease
beta-thalassemia
  • thalassemias, beta-
spherocytosis, type 2
  • sph2
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 44 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 44 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 22 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 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for HBE1 Gene

Sources for HBE1 Gene

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