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 |