IGHA2

immunoglobulin heavy constant alpha 2 (A2m marker), the group of Immunoglobulin heavy locus at 14q32.33

Basic information

Region (hg38): 14:105583730-105588395

Links

ENSG00000211890 ∙ NCBI:3494 ∙ OMIM:147000 ∙ HGNC:5479 ∙ Uniprot:P01877 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IGHA2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGHA2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: 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). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414, ECO:0000303|PubMed:2241915}.
• Pathway: Inflammatory Response Pathway;Cell surface interactions at the vascular wall;Hemostasis (Consensus)

Haploinsufficiency Scores

• ghis: 0.397

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene ontology

• Biological process: retina homeostasis;glomerular filtration;receptor-mediated endocytosis;phagocytosis, recognition;phagocytosis, engulfment;immune response;complement activation, classical pathway;antibacterial humoral response;defense response to bacterium;innate immune response;B cell receptor signaling pathway;positive regulation of B cell activation;leukocyte migration;positive regulation of respiratory burst
• Cellular component: extracellular region;extracellular space;external side of plasma membrane;immunoglobulin complex, circulating;extracellular exosome;monomeric IgA immunoglobulin complex;secretory IgA immunoglobulin complex;secretory dimeric IgA immunoglobulin complex;blood microparticle
• Molecular function: antigen binding;immunoglobulin receptor binding