| PRO Term |
GO Annotation |
Evidence |
| PR:000000009 AMHR2 |
acts_upstream_of_or_within | GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway |
PIRSF:PIRSF037392 |
| GO:0007548 sex differentiation |
PIRSF:PIRSF037392 |
PR:000000075 hAMHR2/var:R54C Example: UniProtKB:Q16671-1, Arg-54, CHEBI:29950 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000076 hAMHR2/var:G142V Example: UniProtKB:Q16671-1, Gly-142, CHEBI:30015 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000077 hAMHR2/var:H282Q Example: UniProtKB:Q16671-1, His-282, CHEBI:30011 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000078 hAMHR2/var:R406Q Example: UniProtKB:Q16671-1, Arg-406, CHEBI:30011 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:11549681 |
PR:000000079 hAMHR2/var:D426G Example: UniProtKB:Q16671-1, Asp-426, CHEBI:29947 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000080 hAMHR2/var:V458A Example: UniProtKB:Q16671-1, Val-458, CHEBI:46217 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000081 hAMHR2/var:D491H Example: UniProtKB:Q16671-1, Asp-491, CHEBI:29979 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000082 hAMHR2/var:R504C Example: UniProtKB:Q16671-1, Arg-504, CHEBI:29950 |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
| PR:Q16671-1 hAMHR2/iso:1 |
acts_upstream_of_or_within | GO:0001880 Mullerian duct regression |
PMID:14750901 |
| GO:0007165 signal transduction |
PMID:7493017 |
| GO:0007548 sex differentiation |
PMID:12834017 |
| enables | GO:0038023 signaling receptor activity |
PMID:7493017 |
| GO:0042562 hormone binding |
PMID:14750901; PMID:7493017 |
| PR:Q8K592-1 mAMHR2/iso:1 |
acts_upstream_of_or_within | GO:0007548 sex differentiation |
PMID:8895659 |
| GO:1990262 anti-Mullerian hormone receptor signaling pathway |
MGI_ref:5499265; PMID:23624077 |
| enables | GO:1990272 anti-Mullerian hormone receptor activity |
MGI_ref:5499265; PMID:23624077 |
PR:R4JKA2 mAMHR2/iso:Delta2 This sequence lacks the region encoded by exon 2 which is part of the extracellular domain and it is essential for ligand binding |
acts_upstream_of_or_within | GO:1902613 negative regulation of anti-Mullerian hormone signaling pathway |
MGI_ref:5499265; PMID:23624077 |
PR:R4JNM3 mAMHR2/iso:Delta9/10 This sequence lacks the region encoded by exons 9 and 10, which is part of the protein kinase domain |
acts_upstream_of_or_within | GO:1902613 negative regulation of anti-Mullerian hormone signaling pathway |
MGI_ref:5499265; PMID:23624077 |