Human Gene IGHE (ENST00000641420.1_7) from GENCODE V47lift37
  Description: 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). (from UniProt P01854)
Gencode Transcript: ENST00000641420.1_7
Gencode Gene: ENSG00000211891.6_11
Transcript (Including UTRs)
   Position: hg19 chr14:106,064,028-106,068,065 Size: 4,038 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr14:106,064,028-106,068,065 Size: 4,038 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:106,064,028-106,068,065)mRNA (may differ from genome)Protein (494 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: IGHE_HUMAN
DESCRIPTION: RecName: Full=Ig epsilon chain C region;
POLYMORPHISM: The following alleles of IGHE are known: IGHE*01 and IGHE*02. The sequence shown is that of allele 02.
SIMILARITY: Contains 4 Ig-like (immunoglobulin-like) domains.
SEQUENCE CAUTION: Sequence=AAB59424.1; Type=Erroneous initiation;
WEB RESOURCE: Name=IMGT/GENE-DB; URL="http://www.imgt.org/IMGT_GENE-DB/GENElect?query=2+IGHE&species=Homo+sapiens";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: IGHE
Diseases sorted by gene-association score: toxocariasis (15), allergic rhinitis (13), atopy (10), hyper ige syndrome (8), egg allergy (8), latex allergy (7), asthma (7), dermatitis (7), rhinitis (7), peanut allergy (7), episodic angioedema with eosinophilia (6), hypereosinophilic syndrome (6), exercise-induced anaphylaxis (5), cherry allergy (5), allergic asthma (4), schistosomiasis (4), peach allergy (4), omenn syndrome (3), staphylococcal toxic shock syndrome (3), otitis media (3), immunodeficiency, x-linked, with hyper-igm (3), bronchiolitis (3), atopic keratoconjunctivitis (3), ocular toxoplasmosis (3), fish allergy (2), immunoglobulin g deficiency (2), allergic hypersensitivity disease (2), toxic oil syndrome (2), gastrointestinal allergy (2), vernal conjunctivitis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C503118 1,3-dihydroxy-2-hydroxymethylpropyl-2-ammonium 2-((R)-3-cyclo-hexyl-1-phenylpropyl)-1,3-dioxo-2,3-dihydro-1H-isoindole-5-carboxylate monohydrate
  • D000643 Ammonium Chloride
  • D015232 Dinoprostone
  • D011239 Prednisolone
  • D001335 Vehicle Emissions
  • C031181 phenanthrene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003006 - Ig/MHC_CS
IPR003597 - Ig_C1-set

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07654 - Immunoglobulin C1-set domain
PF08205 - CD80-like C2-set immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1F6A - X-ray MuPIT 1FP5 - X-ray 1G84 - NMR 1IGE - Model 1O0V - X-ray 2WQR - X-ray 2Y7Q - X-ray MuPIT 3H9Y - X-ray 3H9Z - X-ray 3HA0 - X-ray 4EZM - X-ray MuPIT 4GT7 - X-ray


ModBase Predicted Comparative 3D Structure on P01854
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003823 antigen binding
GO:0034987 immunoglobulin receptor binding

Biological Process:
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0006910 phagocytosis, recognition
GO:0006911 phagocytosis, engulfment
GO:0006955 immune response
GO:0006958 complement activation, classical pathway
GO:0019221 cytokine-mediated signaling pathway
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042742 defense response to bacterium
GO:0045087 innate immune response
GO:0050853 B cell receptor signaling pathway
GO:0050871 positive regulation of B cell activation

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0042571 immunoglobulin complex, circulating
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AJ491906 - Homo sapiens mRNA for immunoglobulin heavy chain V-D-J-Ce region (clone SO16 C11).
AJ491907 - Homo sapiens mRNA for immunoglobulin heavy chain V-D-J-Ce region (clone SO16 C14).
AJ491913 - Homo sapiens mRNA for immunoglobulin heavy chain V-D-J-Ce region (clone AP19 C4).
AJ491914 - Homo sapiens mRNA for immunoglobulin heavy chain V-D-J-Ce region (clone AP19 C2).
Z47244 - H.sapiens mRNA for immunoglobulin variable region (clone 201-E3).
Z47245 - H.sapiens mRNA for immunoglobulin variable region (clone 201-E5).
Z47246 - H.sapiens mRNA for immunoglobulin variable region (clone 201-E6).
Z47247 - H.sapiens mRNA for immunoglobulin variable region (clone 201-E7).
Z47248 - H.sapiens mRNA for immunoglobulin variable region (clone 201-E8).
Z47249 - H.sapiens mRNA for immunoglobulin variable region (clone 201-E9).
Z47256 - H.sapiens mRNA for immunoglobulin variable region (clone 202-E2).
Z47257 - H.sapiens mRNA for immunoglobulin variable region (clone 202-E4).
Z47258 - H.sapiens mRNA for immunoglobulin variable region (clone 202-E5).
Z47263 - H.sapiens mRNA for immunoglobulin variable region (clone 203-E1).
Z47264 - H.sapiens mRNA for immunoglobulin variable region (clone 203-E2).
Z47265 - H.sapiens mRNA for immunoglobulin variable region (clone 203-E6).
Z47266 - H.sapiens mRNA for immunoglobulin variable region (clone 203-E7).
Z47267 - H.sapiens mRNA for immunoglobulin variable region (clone 203-E9).
Z97033 - Homo sapiens rearanged immunoglobulin VH-CE in peanut allergy (CO 9.1).
Z97037 - Homo sapiens rearanged immunoglobulin VH-CE in peanut allergy (CO 7.1).
Z92894 - H.sapiens mRNA for rearranged immunoglobulin VH-CE in peanut allergy (KH 17.4).
Z92898 - H.sapiens mRNA for rearranged immunoglobulin VH-CE in peanut allergy (KH 15.4).
HM995584 - Homo sapiens isolate P2_Inf_2.5.7 immunoglobulin variable region mRNA, partial cds.
DQ005278 - Homo sapiens isolate K25 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005282 - Homo sapiens isolate K42 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781821 - Homo sapiens isolate A20 AF2 non-allergic IgE heavy chain IGHV3-31 mRNA, partial cds.
DQ005304 - Homo sapiens isolate L69 AF4 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005289 - Homo sapiens isolate K89 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005293 - Homo sapiens isolate C1 MK2 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005305 - Homo sapiens isolate L76 AF4 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005288 - Homo sapiens isolate K88 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781822 - Homo sapiens isolate A21 AF2 non-allergic IgE heavy chain IGHV1-69 mRNA, partial cds.
AY781868 - Homo sapiens isolate E13 AF1 non-allergic IgE heavy chain IGHV1-69 mRNA, partial cds.
AY781869 - Homo sapiens isolate E41 AF1 non-allergic IgE heavy chain IGHV1-46 mRNA, partial cds.
AJ002767 - Homo sapiens mRNA for V region of immunoglobulin heavy chain, patient 1.
AK130825 - Homo sapiens cDNA FLJ27315 fis, clone TMS06851, highly similar to Ig epsilon chain C region.
AH004336 - Homo sapiens Ig epsilon CDR3/FW4=secreted form {clone A3/b} [human, mRNA Partial, 559 nt 2 segments].
E00167 - cDNA coding human immunoglobulin E, heavy chain.
X95746 - H.sapiens immunoglobulin epsilon chain.
DQ005257 - Homo sapiens isolate E9 HF1 allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AJ491904 - Homo sapiens mRNA for immunoglobulin heavy chain V-D-J-Ce region (clone SO16 C2).
AJ491905 - Homo sapiens mRNA for immunoglobulin heavy chain V-D-J-Ce region (clone SO16 C3).
Z92888 - H.sapiens mRNA for rearranged immunoglobulin VH-CE in peanut allergy (CO 9.4).
Z92893 - H.sapiens mRNA for rearranged immunoglobulin VH-CE in peanut allergy (CO 10.4).
Z92895 - H.sapiens mRNA for rearranged immunoglobulin VH-CE in peanut allergy (KH 1.4).
Z92896 - H.sapiens mRNA for rearranged immunoglobulin VH-CE in peanut allergy (KH 7.4).
Z46761 - H.sapiens mRNA for immunoglobulin heavy chain VDJ region (MT1.4).
Z97036 - Homo sapiens rearanged immunoglobulin VH-CE in peanut allergy (CO 6.1).
Z92891 - H.sapiens mRNA for rearranged immunoglobulin VH-CE in peanut allergy (CO 17.4).
Z46769 - H.sapiens mRNA for immunoglobulin heavy chain VDJ region (MT2.5).
Z97032 - Homo sapiens rearanged immunoglobulin VH-CE in peanut allergy (CO 4.1).
DQ005294 - Homo sapiens isolate L4 AF4 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781854 - Homo sapiens isolate A5 AF1 non-allergic IgE heavy chain IGHV4-61*02 mRNA, partial cds.
AY781863 - Homo sapiens isolate L15 AF1 non-allergic IgE heavy chain IGHV4-59 mRNA, partial cds.
DQ005266 - Homo sapiens isolate C5 HF1 allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005280 - Homo sapiens isolate K38 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781829 - Homo sapiens isolate A59 AF2 non-allergic IgE heavy chain IGHV3-7 mRNA, partial cds.
AY781858 - Homo sapiens isolate A10 AF1 non-allergic IgE heavy chain IGHV1-8 mRNA, partial cds.
DQ005271 - Homo sapiens isolate K7 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781807 - Homo sapiens isolate C10 MK2 non allergic IgE Heavy chain IGHV3-21*01 mRNA, partial cds.
DQ005279 - Homo sapiens isolate K26 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005290 - Homo sapiens isolate N17 AF1 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005303 - Homo sapiens isolate L67 AF4 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781826 - Homo sapiens isolate A37 AF2 non-allergic IgE heavy chain IGHV3-23*01 mRNA, partial cds.
AY781828 - Homo sapiens isolate A49 AF2 non-allergic IgE heavy chain IGHV3-23 mRNA, partial cds.
AY781824 - Homo sapiens isolate A30 AF2 non-allergic IgE heavy chain IGHV3-23*01 mRNA, partial cds.
AY781873 - Homo sapiens isolate E5 AF1 non-allergic IgE heavy chain IGHV3-23*01 mRNA, partial cds.
DQ005273 - Homo sapiens isolate K14 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781815 - Homo sapiens isolate N40 nonfunctional AF1 non-allergic IgE heavy chain IGHV3-21 mRNA sequence.
AY781827 - Homo sapiens isolate A44 AF2 non-allergic IgE heavy chain IGHV3-23 mRNA, partial cds.
AY781859 - Homo sapiens isolate E12 AF1 non-allergic IgE heavy chain VH3-30 mRNA, partial cds.
AY781813 - Homo sapiens isolate N15 AF1 non-allergic IgE heavy chain VH3-30-3 mRNA, partial cds.
AY781816 - Homo sapiens isolate N57 AF1 non-allergic IgE heavy chain IGHV3-30-3 mRNA, partial cds.
AY781879 - Homo sapiens isolate A32 AF1 non-allergic IgE heavy chain IGHV3-30 mRNA, partial cds.
AY781883 - Homo sapiens isolate E16 AF1 non-allergic IgE heavy chain IGHV3-30-3 mRNA, partial cds.
DQ005275 - Homo sapiens isolate K22 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781843 - Homo sapiens isolate C13 AF1 non-allergic IgE heavy chain IGHV4-31 mRNA, partial cds.
AY781844 - Homo sapiens isolate C24 AF1 non-allergic IgE heavy chain IGHV4-31 mRNA, partial cds.
AY781845 - Homo sapiens isolate L3 AF1 non-allergic IgE heavy chain IGHV4-31 mRNA, partial cds.
AY781846 - Homo sapiens isolate L4 AF1 non-allergic IgE heavy chain IGHV4 mRNA, partial cds.
AY781847 - Homo sapiens isolate L6 AF1 non-allergic IgE heavy chain IGHV4-31 mRNA, partial cds.
DQ005276 - Homo sapiens isolate K23 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005274 - Homo sapiens isolate K15 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005285 - Homo sapiens isolate K66 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
AY781849 - Homo sapiens isolate E14 AF1 non-allergic IgE heavy chain IGHV4-39 mRNA, partial cds.
AY781880 - Homo sapiens isolate A33 AF1 non-allergic IgE heavy chain IGHV3-30 mRNA, partial cds.
DQ005277 - Homo sapiens isolate K24 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
DQ005284 - Homo sapiens isolate K65 AF3 non-allergic immunoglobulin epsilon heavy chain variable region mRNA, partial cds.
Z47274 - H.sapiens mRNA for immunoglobulin variable region (clone 204-E1).
Z47275 - H.sapiens mRNA for immunoglobulin variable region (clone 204-E2).
S71435 - epsilon, IgE=membrane-bound IgE, epsilon m/s isoform {alternative splicing} [human, mRNA Partial, 216 nt].
S55277 - immunoglobulin epsilon chain membrane-bound form {3' region, C4 non-coding region, M:D, alternatively spliced, membrane domain exon 1} [human, B cell myeloma U-266, mRNA Partial, 357 nt].
S55271 - immunoglobulin epsilon chain constant region=membrane-bound form {M:A, alternatively spliced, exon C4, membrane domain exon 1} [human, B cell myeloma U-266, mRNA Partial, 230 nt].
S55276 - immunoglobulin epsilon chain constant region=membrane-bound form {3' region, M:C, alternatively spliced, exon C4} [human, B cell myeloma U-266, mRNA Partial, 166 nt].
S55273 - immunoglobulin epsilon chain constant region=membrane-bound form {3' region, M:B, alternatively spliced, exon C4} [human, B cell myeloma U-266, mRNA Partial, 136 nt].
DQ431664 - Homo sapiens immunoglobulin heavy chain constant region Iepsilon-Cepsilon germline transcript mRNA sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P01854 (Reactome details) participates in the following event(s):

R-HSA-2454240 Recruitment of SYK to p-FCERI gamma subunit
R-HSA-2454208 Phosphorylation of beta and gamma subunits by LYN
R-HSA-2454239 Phosphorylation of SYK
R-HSA-2730882 Phosphorylation of PKC-theta
R-HSA-2730833 Phosphorylation of TEC kinases by p-SYK
R-HSA-2730843 Phosphorylation of LAT by p-SYK
R-HSA-2730851 Phosphorylation of SLP-76 by p-SYK
R-HSA-2730884 Phosphorylation of NTAL by p-SYK/Lyn
R-HSA-2730886 Phosphorylation of SHC by SYK kinase
R-HSA-2730860 Phosphorylation of GAB2 by SYK/FYN
R-HSA-2730888 Phosphorylation of PLC-gamma
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-2871796 FCERI mediated MAPK activation
R-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilization

-  Other Names for This Gene
  Alternate Gene Symbols: A0A286YES5, E00167, IGHE , IGHE_HUMAN, P01854, uc328hjz.1
UCSC ID: ENST00000641420.1_7
RefSeq Accession: NM_000014.6
Protein: P01854 (aka IGHE_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.