Details for Gene AMHR2

GENE NAME AMHR2
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000135409
UNIPROT ACCESSION NUMBER Q16671
GO MOLECULAR FUNCTION ['protein homodimerization activity', 'hormone binding', 'protein binding', 'activin-activated receptor activity', 'anti-Mullerian hormone receptor activity', 'protein serine/threonine kinase activity', 'activin binding', 'metal ion binding', 'transforming growth factor beta receptor activity, type II', 'ATP binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04060; hsa04350; R-HSA-162582; R-HSA-201451; R-HSA-9006936
1 combination linked to AMHR2 OLI1801
1 variant linked to AMHR2 AMHR2:c.1330_1356del, p.Gly445_Leu453del
1 disease linked to AMHR2 Congenital hypogonadotropic hypogonadism

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