|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:IGH-7
gptkb:immunoglobulin_heavy_constant_mu
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Hyper_IgM_syndrome
|
|
gptkbp:chromosomeArm
|
q32.33
|
|
gptkbp:encodes
|
gptkb:Ig_mu_chain_C_region
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000211899
3507
|
|
gptkbp:expressedIn
|
gptkb:B_cells
|
|
gptkbp:fullName
|
gptkb:Immunoglobulin_heavy_constant_mu
|
|
gptkbp:function
|
codes for the constant region of the mu heavy chain of immunoglobulin M (IgM)
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
5526
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IGHM
|
|
gptkbp:locatedOnChromosome
|
14
|
|
gptkbp:locusType
|
14q32.33
|
|
gptkbp:mutationAssociatedWith
|
immunodeficiency
|
|
gptkbp:OMIM
|
147020
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Ighm
|
|
gptkbp:pathway
|
gptkb:adaptive_immune_system
gptkb:B_cell_receptor_signaling_pathway
|
|
gptkbp:product
|
gptkb:IgM
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38.p13
|
|
gptkbp:symbol
|
gptkb:IGHM
|
|
gptkbp:UniProtID
|
P01871
|
|
gptkbp:bfsParent
|
gptkb:IGM
gptkb:PAX5
|
|
gptkbp:bfsLayer
|
7
|