Details for Gene SEMA4D

GENE NAME SEMA4D
CHROMOSOME 9
ENSEMBL ID ENSG00000187764
ENTREZ ID 10507
UNIPROT ACCESSION NUMBER Q92854
GO MOLECULAR FUNCTION signaling receptor activity; protein binding; transmembrane signaling receptor activity; signaling receptor binding; chemorepellent activity; semaphorin receptor binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04360; R-HSA-416550; R-HSA-400685; R-HSA-1266738; R-HSA-373755; R-HSA-416572; R-HSA-422475; R-HSA-9675108; R-HSA-416700
4 combinations linked to SEMA4D OLI429; OLI884; OLI856; OLI882
4 variants linked to SEMA4D SEMA4D:c.2278C>A, p.Leu760Met; SEMA4D:c.1544C>T, p.Ala515Val; SEMA4D:c.2363G>C, p.Ser788Thr; SEMA4D:c.338G>A, p.Arg113Gln
1 disease linked to SEMA4D Kallmann syndrome

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