IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHA2provided by HGNC
Official Full Name: immunoglobulin heavy constant alpha 2 (A2m marker)provided by HGNC
Primary source: HGNC:HGNC:5479
See related: Ensembl:ENSG00000211890 IMGT/GENE-DB:IGHA2; MIM:147000; AllianceGenome:HGNC:5479
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: A2M
Summary: Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Oct 2024]
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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 (105586937..105588394, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99839969..99841426, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106053274..106054731, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Using direct-tissue MALDI tandem mass spectrometry (MS/MS), we identified immunoglobulin heavy constant alpha 2 (IGHA2) as a new, zone-specific protein in the breast tumor microenvironment.
Title: In situ identification and localization of IGHA2 in the breast tumor microenvironment by mass spectrometry.

Submit: New GeneRIF Correction

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

RH44850 (e-PCR)
- UniSTS:8845

RH44849 (e-PCR)
- UniSTS:42128

PMC19472P5 (e-PCR)
- UniSTS:271779

RH68957 (e-PCR)
- UniSTS:57509

Other Names

constant region of heavy chain of IgA2
immunoglobulin alpha 2 (A2M marker)

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables antigen binding	TAS Traceable Author Statement more info	PubMed
contributes_to immunoglobulin receptor binding	IDA Inferred from Direct Assay 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 antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in antibacterial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, classical pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in glomerular filtration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of respiratory burst	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of IgA 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 region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
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
part_of monomeric IgA immunoglobulin complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
part_of secretory IgA immunoglobulin complex	IDA Inferred from Direct Assay more info	PubMed
part_of secretory dimeric IgA immunoglobulin complex	IDA Inferred from Direct Assay 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.