Entity Details

Primary name IGLL1
Entity type gene
Source Source Link

Details

PrimaryID3543
RefseqGeneNG_009791
SymbolIGLL1
Nameimmunoglobulin lambda like polypeptide 1
Chromosome22
Location22q11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-09-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsIGLL1_HUMAN

GO terms

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GOName
GO:0003823 antigen binding
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0006910 phagocytosis, recognition
GO:0006911 phagocytosis, engulfment
GO:0006955 immune response
GO:0006958 complement activation, classical pathway
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0034987 immunoglobulin receptor binding
GO:0042571 immunoglobulin complex, circulating
GO:0042742 defense response to bacterium
GO:0045087 innate immune response
GO:0050853 B cell receptor signaling pathway
GO:0050871 positive regulation of B cell activation
GO:0050900 leukocyte migration

Diseases

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Disease IDSourceNameDescription
613500 OMIMAgammaglobulinemia 2, autosomal recessive (AGM2)A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions