Entity Details

Primary name BTNL2
Entity type gene
Source Source Link

Details

PrimaryID56244
RefseqGeneNG_054759
SymbolBTNL2
Namebutyrophilin like 2
Chromosome6
Location6p21.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBTNL2_HUMAN

GO terms

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GOName
GO:0001817 regulation of cytokine production
GO:0002250 adaptive immune response
GO:0005102 signaling receptor binding
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0016021 integral component of membrane
GO:0050852 T cell receptor signaling pathway

Diseases

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Disease IDSourceNameDescription
612387 OMIMSarcoidosis 2 (SS2)An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Disease susceptibility is associated with variants affecting the gene represented in this entry. A nucleotide transition affecting a splice donor site results in the use of an alternative splice site and the production of isoform 3. Individuals expressing isoform 3 have a higher risk for sarcoidosis.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
BTNL2OPTNIntAct32814053 details