Aliases for IGHE Gene

Aliases for IGHE Gene

  • Immunoglobulin Heavy Constant Epsilon 2 3 4 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
  • GC14M105754
  • GC14M105764
  • GC14M105778
  • GC14M105628
  • GC14M105637
  • GC14M105659
  • GC14M105672
  • GC14M105697
  • GC14M105716
  • GC14M105729
  • GC14M105743

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 Latex Allergy. Among its related pathways are RET signaling and IL4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include antigen binding. An important paralog of this gene is IGHG1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for IGHE Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGHE Gene

Genomics for IGHE Gene

GeneHancer (GH) Regulatory Elements for IGHE Gene

Promoters and enhancers for IGHE 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
GH14J105601 Enhancer 1 Ensembl ENCODE dbSUPER 500.7 -1.5 -1541 2.7 ZNF217 REST CUX1 CTBP1 ESRRA MYC ZNF316 TRIM24 GATA3 DPF2 IGHE PACS2 MIR8071-1 lnc-TMEM121-2
GH14J104966 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.1 +629.1 629069 12.7 ZNF217 CTCF TCF12 PHF8 JUND FOS ZFX ZNF10 ZIC2 REST CLBA1 MTA1 AHNAK2 CDCA4 GPR132 IGHE CEP170B INF2 JAG2 piR-39523
GH14J104752 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.2 +847.9 847931 4.4 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 JUND SIVA1 AKT1 ENSG00000257270 ENSG00000202275 MTA1 BRF1 ENSG00000270591 CDCA4 RPS20P33 PPP1R13B
GH14J105562 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 5.7 +37.4 37426 3.6 NONO TRIM22 ZEB1 HES1 KLF9 E4F1 ZNF524 SRF ZNF207 MLLT1 MTA1 BRF1 TMEM121 IGHE ELK2BP ATP5MC1P1 CRIP2 AB372778-010
GH14J105705 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 4.7 -106.8 -106821 5.5 ZNF217 REST RAD21 CTBP1 POLR2A HES1 ZBTB17 E4F1 ZNF207 NONO IGHA1 IGHE ENSG00000257270 IGHV3-20 IGHV3-15 DQ083946 ENSG00000282474-001 lnc-TMEM121-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGHE on UCSC Golden Path with GeneCards custom track

Genomic Locations for IGHE Gene

Genomic Locations for IGHE Gene
chr14:105,597,691-105,601,728
(GRCh38/hg38)
Size:
4,038 bases
Orientation:
Minus strand
chr14:106,064,224-106,068,065
(GRCh37/hg19)
Size:
3,842 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAB59424.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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 Asn21, Asn49, Asn99, Asn146, Asn252, and Asn275
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • IGHE_HUMAN (765)

Other Protein References for IGHE Gene

ENSEMBL proteins:

Antibody Products

  • Abcam antibodies for IGHE
  • Boster Bio Antibodies for IGHE

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

Blocks:
  • Immunoglobulin C-type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IGHE Gene

GenScript: Design optimal peptide antigens:
  • Ig epsilon chain C region (IGHE_HUMAN)
genes like me logo Genes that share domains with IGHE: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGHE Gene

Function for IGHE Gene

Molecular function for IGHE Gene

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).
GENATLAS Biochemistry:
immunoglobulin,epsilon

Phenotypes From GWAS Catalog for IGHE Gene

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 21873635
genes like me logo Genes that share ontologies with IGHE: view

Phenotypes for IGHE Gene

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

Animal Model Products

CRISPR 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:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IGHE: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for IGHE Gene

Pathways & Interactions for IGHE Gene

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

Pathways by source for IGHE Gene

3 GeneGo (Thomson Reuters) pathways for IGHE Gene
  • Immune response Fc epsilon RI pathway
  • Immune response IL-4 signaling pathway
  • Immune response NFAT in immune response

Interacting Proteins for IGHE Gene

;

Gene Ontology (GO) - Biological Process for IGHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006910 phagocytosis, recognition IBA 21873635
GO:0006911 phagocytosis, engulfment IBA 21873635
GO:0006955 immune response NAS 6300763
GO:0006958 complement activation, classical pathway IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Omalizumab Approved, Investigational Pharma antibody 167

(44) 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

2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

No ASD Table

Relevant External Links for IGHE Gene

GeneLoc Exon Structure for
IGHE

Expression for IGHE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31
  • 48 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGHE 31
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGHE 31
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IGHE 31
  • 41 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ighe 31
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 28 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ighv1-4 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IGHE: view image

Paralogs for IGHE Gene

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

  • IGHE_HUMAN

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGHE Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
VAR_003885 - p.Trp359Leu
VAR_044229 - p.Trp43Cys

Additional Variant Information for IGHE Gene

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

No data available for Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGHE Gene

Disorders for IGHE Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
toxocariasis
  • infection by toxascaris
latex allergy
peanut allergy
  • allergy to peanuts
egg allergy
  • allergy to eggs
allergic rhinitis
  • alrh
- elite association - COSMIC cancer census association via MalaCards
Search IGHE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 EA … Davies DR (Molecular immunology 1986) 3 4 54
  2. Molecular cloning and nucleotide sequencing of human immunoglobulin epsilon chain cDNA. (PMID: 6300763) Seno M … Honjo T (Nucleic acids research 1983) 3 4 54
  3. Long terminal repeat-like elements flank a human immunoglobulin epsilon pseudogene that lacks introns. (PMID: 6327276) Ueda S … Honjo T (The EMBO journal 1982) 3 4 54
  4. Duplication and deletion in the human immunoglobulin epsilon genes. (PMID: 6288268) Max EE … Leder P (Cell 1982) 3 4 54
  5. The sequence of a human immunoglobulin epsilon heavy chain constant region gene, and evidence for three non-allelic genes. (PMID: 6234164) Flanagan JG … Rabbitts TH (The EMBO journal 1982) 3 4 54

Products for IGHE Gene

Sources for IGHE Gene