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Aliases for IGHE Gene

Aliases for IGHE Gene

  • Immunoglobulin Heavy Constant Epsilon 2 3 5
  • Constant Region Of Heavy Chain Of IgE 3
  • Ig Epsilon Chain C Region ND 4
  • Ig Epsilon Chain C Region 4
  • Immunoglobulin Epsilon 3
  • IgE 3

External Ids for IGHE Gene

Previous GeneCards Identifiers for IGHE Gene

  • GC14U990033
  • GC14M100057
  • GC14M104038
  • GC14M105137
  • GC14M106066
  • GC14M086257
  • GC14M105604
  • GC14M105619
  • GC14M105628
  • GC14M105637
  • GC14M105659

Summaries for IGHE Gene

GeneCards Summary for IGHE Gene

IGHE (Immunoglobulin Heavy Constant Epsilon) is a Protein Coding gene. Diseases associated with IGHE include Toxocariasis and Allergic Rhinitis. Among its related pathways are Innate Immune System and IL4-mediated signaling events. GO annotations related to this gene include antigen binding. An important paralog of this gene is IGHG3.

UniProtKB/Swiss-Prot for IGHE Gene

  • Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).

Gene Wiki entry for IGHE Gene

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

Genomics for IGHE Gene

Regulatory Elements for IGHE Gene

Enhancers for IGHE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G105562 1.4 FANTOM5 ENCODE dbSUPER 5.7 +37.4 37426 3.6 HDGF NFIB ZNF493 YBX1 PLRG1 ZNF48 ZBTB7B ZEB1 EGR1 ZNF207 TMEM121 IGHE ELK2BP ATP5G1P1 CRIP2 IGHA2
GH14G104966 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.1 +629.5 629459 11.9 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF2 ZBTB7B ZNF207 ZNF143 FOS C14orf79 AHNAK2 LINC00638 ENSG00000257270 GPR132 IGHE CEP170B INF2 JAG2 CDCA4
GH14G105705 1 ENCODE dbSUPER 4.7 -106.8 -106821 5.5 HDGF CTCF PKNOX1 USF1 NFIB ZNF140 YBX1 ZBTB7B ZKSCAN1 MTA3 IGHE ENSG00000257270 IGHV3-20 IGHV3-15 ENSG00000253701 IGHA1
GH14G105712 0.8 ENCODE dbSUPER 4.9 -111.2 -111151 0.2 NFIB BHLHE40 NR2F1 DPF2 IGHE IGHA1 IGHEP1
GH14G105841 0.8 dbSUPER 4.7 -241.0 -240962 2.1 HDGF PKNOX1 CBX5 ZNF143 ZNF207 PRPF4 RELB RCOR1 HCFC1 CEBPB IGHE IGHD GC14M105810
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IGHE on UCSC Golden Path with GeneCards custom track

Genomic Location for IGHE Gene

Chromosome:
14
Start:
105,599,941 bp from pter
End:
105,601,728 bp from pter
Size:
1,788 bases
Orientation:
Minus strand

Genomic View for IGHE Gene

Genes around IGHE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for IGHE Gene

Proteins for IGHE Gene

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

    Protein Symbol:
    P01854-IGHE_HUMAN
    Recommended name:
    Immunoglobulin heavy constant epsilon
    Protein Accession:
    P01854

    Protein attributes for IGHE Gene

    Size:
    428 amino acids
    Molecular mass:
    47019 Da
    Quaternary structure:
    • Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked.
    SequenceCaution:
    • Sequence=AAB59395.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAB59424.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGHE Gene

neXtProt entry for IGHE Gene

Post-translational modifications for IGHE Gene

  • Glycosylation at isoforms=21, posLast=4949, posLast=9999, isoforms=146, posLast=252252, and isoforms=275
  • Modification sites at PhosphoSitePlus

Other Protein References for IGHE Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for IGHE Gene

Domains & Families for IGHE Gene

Gene Families for IGHE Gene

Protein Domains for IGHE Gene

Suggested Antigen Peptide Sequences for IGHE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IGHE: view

No data available for UniProtKB/Swiss-Prot for IGHE Gene

Function for IGHE Gene

Molecular function for IGHE Gene

GENATLAS Biochemistry:
immunoglobulin,epsilon
UniProtKB/Swiss-Prot Function:
Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).

Gene Ontology (GO) - Molecular Function for IGHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding NAS 6300763
GO:0034987 immunoglobulin receptor binding IBA --
genes like me logo Genes that share ontologies with IGHE: view

Phenotypes for IGHE Gene

GenomeRNAi human phenotypes for IGHE:
genes like me logo Genes that share phenotypes with IGHE: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGHE Gene

Localization for IGHE Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGHE Gene

Secreted. Cell membrane.

Gene Ontology (GO) - Cellular Components for IGHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0009897 external side of plasma membrane IBA --
GO:0042571 immunoglobulin complex, circulating IBA --
GO:0072562 blood microparticle IBA --
genes like me logo Genes that share ontologies with IGHE: view

No data available for Subcellular locations from COMPARTMENTS for IGHE Gene

Pathways & Interactions for IGHE Gene

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

Interacting Proteins for IGHE Gene

Gene Ontology (GO) - Biological Process for IGHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006910 phagocytosis, recognition IBA --
GO:0006911 phagocytosis, engulfment IBA --
GO:0006955 immune response NAS 6300763
GO:0006958 complement activation, classical pathway IBA --
GO:0038095 Fc-epsilon receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with IGHE: view

No data available for SIGNOR curated interactions for IGHE Gene

Drugs & Compounds for IGHE Gene

(71) Drugs for IGHE Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Omalizumab Approved, Investigational Pharma antibody 145

(48) Additional Compounds for IGHE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IGHE: view

Transcripts for IGHE Gene

mRNA/cDNA for IGHE Gene

(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

No ASD Table

Relevant External Links for IGHE Gene

GeneLoc Exon Structure for
IGHE
ECgene alternative splicing isoforms for
IGHE

Expression for IGHE Gene

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

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

This gene is overexpressed in Whole Blood (x9.8), Spleen (x8.9), Thyroid (x4.9), and Small Intestine - Terminal Ileum (x4.3).

Protein differential expression in normal tissues from HIPED for IGHE Gene

This gene is overexpressed in Gallbladder (44.4) and Peripheral blood mononuclear cells (15.3).

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



NURSA nuclear receptor signaling pathways regulating expression of IGHE Gene:

IGHE
genes like me logo Genes that share expression patterns with IGHE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGHE Gene

Orthologs for IGHE Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGHE Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia IGHE 35
  • 48 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGHE 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGHE 35
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IGHE 35
  • 41 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ighe 35
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 28 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ighv1-4 35
  • 14 (a)
OneToMany
Species where no ortholog for IGHE 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rat (Rattus norvegicus)
  • 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 IGHE Gene

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

Paralogs for IGHE Gene

Paralogs for IGHE Gene

(2) SIMAP similar genes for IGHE Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for IGHE Gene

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

Variants for IGHE Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGHE Gene

IGHE_HUMAN-P01854
There are several alleles. The sequence shown is that of IMGT allele IGHE*04.

Sequence variations from dbSNP and Humsavar for IGHE Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_003885 --
VAR_044229 --

Relevant External Links for IGHE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGHE

No data available for Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGHE Gene

Disorders for IGHE Gene

MalaCards: The human disease database

(33) MalaCards diseases for IGHE Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
toxocariasis
  • infection by toxascaris
allergic rhinitis
  • atopic rhinitis
egg allergy
  • allergy to eggs
episodic angioedema with eosinophilia
  • gleich syndrome
atopy
  • atopic hypersensitivity
- elite association - COSMIC cancer census association via MalaCards
Search IGHE in MalaCards View complete list of genes associated with diseases

Relevant External Links for IGHE

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGHE
genes like me logo Genes that share disorders with IGHE: view

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

Publications for IGHE Gene

  1. A model of the Fc of immunoglobulin E. (PMID: 3796618) Padlan E.A. … Davies D.R. (Mol. Immunol. 1986) 3 4 64
  2. Molecular cloning and nucleotide sequencing of human immunoglobulin epsilon chain cDNA. (PMID: 6300763) Seno M. … Honjo T. (Nucleic Acids Res. 1983) 3 4 64
  3. The sequence of a human immunoglobulin epsilon heavy chain constant region gene, and evidence for three non-allelic genes. (PMID: 6234164) Flanagan J.G. … Rabbitts T.H. (EMBO J. 1982) 3 4 64
  4. Duplication and deletion in the human immunoglobulin epsilon genes. (PMID: 6288268) Max E.E. … Leder P. (Cell 1982) 3 4 64
  5. Long terminal repeat-like elements flank a human immunoglobulin epsilon pseudogene that lacks introns. (PMID: 6327276) Ueda S. … Honjo T. (EMBO J. 1982) 3 4 64

Products for IGHE Gene

Sources for IGHE Gene

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