IGHE immunoglobulin heavy constant epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHEprovided by HGNC
Official Full Name: immunoglobulin heavy constant epsilonprovided by HGNC
Primary source: HGNC:HGNC:5522
See related: Ensembl:ENSG00000211891 IMGT/GENE-DB:IGHE; MIM:147180; AllianceGenome:HGNC:5522
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IgE
Summary: Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Predicted to be located in extracellular region. Predicted to be part of immunoglobulin complex, circulating. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105600066..105601727, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99852516..99854177, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106066403..106068064, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Association Between Malignancy, Immunodeficiency, and Atopy in IgE-Deficient Patients.
Title: The Association Between Malignancy, Immunodeficiency, and Atopy in IgE-Deficient Patients.
Patients With Asthma Only Sensitized to Staphylococcus aureus Enterotoxins Have More Exacerbations, Airflow Limitation, and Higher Levels of Sputum IL-5 and IgE.
Title: Patients With Asthma Only Sensitized to Staphylococcus aureus Enterotoxins Have More Exacerbations, Airflow Limitation, and Higher Levels of Sputum IL-5 and IgE.
Differentially expressed microRNAs in peripheral blood cell are associated with downregulated expression of IgE in nonallergic childhood asthma.
Title: Differentially expressed microRNAs in peripheral blood cell are associated with downregulated expression of IgE in nonallergic childhood asthma.
TGF-beta secreted by human umbilical cord blood-derived mesenchymal stem cells ameliorates atopic dermatitis by inhibiting secretion of TNF-alpha and IgE.
Title: TGF-β secreted by human umbilical cord blood-derived mesenchymal stem cells ameliorates atopic dermatitis by inhibiting secretion of TNF-α and IgE.
Total serum IgE level in patients of dermatophytosis and its association with various clinical parameters.
Title: Total serum IgE level in patients of dermatophytosis and its association with various clinical parameters.
IgE and IgG4 responses to shrimp allergen tropomyosin and its epitopes in patients from coastal areas of northern China.
Title: IgE and IgG4 responses to shrimp allergen tropomyosin and its epitopes in patients from coastal areas of northern China.
Imaging the Substructures of Individual IgE Antibodies with Atomic Force Microscopy.
Title: Imaging the Substructures of Individual IgE Antibodies with Atomic Force Microscopy.
This study is the first to identify the major IgE epitope-containing area of the dog allergen Can f 1.
Title: Clustering of conformational IgE epitopes on the major dog allergen Can f 1.
Hyper-IgE is independently associated with asthma, more severe atopy and more severe eczema during childhood and adolescence. IgE 2000 IU/L may be a tool to aid prognostication of this chronic relapsing dermatologic disease and its progression to asthma.
Title: Hyper IgE in Childhood Eczema and Risk of Asthma in Chinese Children.
Asthmatic subjects with high total serum IgE show increased macrophage expression of TLR4 in induced sputum.
Title: Expression of toll-like receptors 2 and 4 in subjects with asthma by total serum IgE level.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:456167 (e-PCR)
- UniSTS:157478

SHGC-35600 (e-PCR)
- UniSTS:89960

PMC19472P6 (e-PCR)
- UniSTS:271780

RH68981 (e-PCR)
- UniSTS:49327

Other Names

constant region of heavy chain of IgE
immunoglobulin epsilon

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables antigen binding	NAS Non-traceable Author Statement more info	PubMed
enables immunoglobulin receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adaptive immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, classical pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of IgE immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
part_of immunoglobulin complex, circulating	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.