IGHD immunoglobulin heavy constant delta [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHDprovided by HGNC
Official Full Name: immunoglobulin heavy constant deltaprovided by HGNC
Primary source: HGNC:HGNC:5480
See related: Ensembl:ENSG00000211898 IMGT/GENE-DB:IGHD; MIM:147170; AllianceGenome:HGNC:5480
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable antigen binding activity. Involved in positive regulation of interleukin-1 production. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Oct 2024]
Annotation information: Annotation category: partial on reference assembly
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Genomic context

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105838401..105845677, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (100109865..100117138, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106304737..106312010, 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?

Data show that IgD interacts with basophils through the CD44-binding protein galectin-9.
Title: Secreted IgD Amplifies Humoral T Helper 2 Cell Responses by Binding Basophils via Galectin-9 and CD44.
Expression of immunoglobulin D is increased in chronic rhinosinusitis.
Title: Expression of immunoglobulin D is increased in chronic rhinosinusitis.
Role of surface IgM and IgD on survival/apoptosis of B-cell chronic lymphocytic leukemia cells.
Title: Role of surface IgM and IgD on survival of the cells from B-cell chronic lymphocytic leukemia.
role of constant region carbohydrate in the assembly and secretion of human IgD.
Title: The role of constant region carbohydrate in the assembly and secretion of human IgD and IgA1.
IGHD gene mutations are associated with chronic lymphocytic leukemia
Title: Use of IGHJ and IGHD gene mutations in analysis of immunoglobulin sequences for the prognosis of chronic lymphocytic leukemia.
IgD heavy chain constant region CH1 is involved in the interaction with Haemophilus influenzae serotype b, and amino acids 198-206 of IgD CH1 likely play a key role in this interaction.
Title: Characterization of the IgD binding site of encapsulated Haemophilus influenzae serotype b.
surprising lack of diversity in the available IGHD gene repertoire
Title: Reconsidering the human immunoglobulin heavy-chain locus: 1. An evaluation of the expressed human IGHD gene repertoire.
Gene inactivation in mice shows that IgD is an auxiliary antigen receptor
Title: Immunoglobulin D (IgD)-deficient mice reveal an auxiliary receptor function for IgD in antigen-mediated recruitment of B cells.
Mouse B cells can develop and function without expressing IgD due to targeted gene inactivation
Title: Cell autonomous expression of IgD is not essential for the maturation of conventional B cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

RH66790 (e-PCR)
- UniSTS:91160

RH70585 (e-PCR)
- UniSTS:91858

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

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 immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in immunoglobulin mediated immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of interleukin-1 production	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of IgD immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
located_in blood microparticle	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

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.