AutismKB 2.0

Annotation Details for IGHA2


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Basic Information Top
Gene Symbol:IGHA2 ( - )
Gene Full Name: immunoglobulin heavy constant alpha 2 (A2m marker)
Band: 14q32.33
Quick LinksEntrez ID:3494; OMIM: 147000; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 5479
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space16502470
GO:0009897IBA-external side of plasma membrane-
GO:0070062IDA-extracellular exosome23533145
GO:0071748IDA-monomeric IgA immunoglobulin complex23250751
GO:0071751IDA-secretory IgA immunoglobulin complex23250751
GO:0071752IDA-secretory dimeric IgA immunoglobulin complex24145934
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0003823TAS-antigen binding6421489
GO:0034987IDAcontributes_toimmunoglobulin receptor binding23250751
GO ID Evidence Qualifier GO_term References
GO:0001895IEP-retina homeostasis23580065
GO:0003094IMP-glomerular filtration23398317
GO:0006898TAS-receptor-mediated endocytosis-
GO:0006910IBA-phagocytosis, recognition-
GO:0006911IBA-phagocytosis, engulfment-
GO:0006955NAS-immune response2241915
GO:0006958IBA-complement activation, classical pathway-
GO:0019731IDA-antibacterial humoral response23250751
GO:0045087IBA-innate immune response-
GO:0050853IBA-B cell receptor signaling pathway-
GO:0050871IBA-positive regulation of B cell activation-
GO:0050900TAS-leukocyte migration-
GO:0060267IDA-positive regulation of respiratory burst24145934
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CDK14IGHA211123917353931 Affinity Capture-MS
CDK14IGHA210971517353931 Affinity Capture-MS
CDK2AP1IGHA211377017353931 Affinity Capture-MS
CDK2AP1IGHA210971517353931 Affinity Capture-MS
NUAK1IGHA210971517353931 Affinity Capture-MS
NUAK1IGHA211522117353931 Affinity Capture-MS
USPL1IGHA211550319615732 Affinity Capture-MS
USPL1IGHA210971519615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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