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
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
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
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
ModBase Predicted Comparative 3D Structure on P01854
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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.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
RGD
Gene Ontology (GO) Annotations with Structured Vocabulary
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
Other Names for This Gene
Alternate Gene Symbols: A0A286YES5, E00167, IGHE , IGHE_HUMAN, P01854, uc328hjz.1UCSC ID: ENST00000641420.1_7RefSeq Accession: NM_000014.6
Protein: P01854
(aka IGHE_HUMAN)
Gene Model Information
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for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.