PRO Term |
GO Annotation |
Evidence |
PR:000000009 AMHR2 AMHR | MISR2 | AMH type II receptor | anti-Muellerian hormone type II receptor | MIS type II receptor | MISRII | MRII "A protein that is a translation product of the human AMHR2 gene or a 1:1 ortholog thereof." [PRO:CNA] |
acts_upstream_of_or_within | GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway |
PIRSF:PIRSF037392 |
GO:0007548 sex differentiation |
PIRSF:PIRSF037392 |
PR:000000075 hAMHR2/var:R54C UniProtKB:Q16671, Arg-54, CHEBI:29950 | UniProtKB:Q16671-1, Arg-54, CHEBI:29950 | anti-Muellerian hormone type-2 receptor sequence variant 1 (human) "An anti-Muellerian hormone type-2 receptor (human) that has a Cys residue at the position equivalent to Arg-54 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, Arg-54, CHEBI:29950." [PMID:8872466, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000076 hAMHR2/var:G142V UniProtKB:Q16671, Gly-142, CHEBI:30015 | UniProtKB:Q16671-1, Gly-142, CHEBI:30015 | anti-Muellerian hormone type-2 receptor sequence variant 2 (human) "An anti-Muellerian hormone type-2 receptor (human) that has a Val residue at the position equivalent to Gly-142 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, Gly-142, CHEBI:30015." [PMID:8872466, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000077 hAMHR2/var:H282Q UniProtKB:Q16671, His-282, CHEBI:30011 | UniProtKB:Q16671-1, His-282, CHEBI:30011 | anti-Muellerian hormone type-2 receptor sequence variant 3 (human) "An anti-Muellerian hormone type-2 receptor (human) that has a Gln residue at the position equivalent to His-282 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, His-282, CHEBI:30011." [PMID:8872466, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000078 hAMHR2/var:R406Q UniProtKB:Q16671, Arg-406, CHEBI:30011 | UniProtKB:Q16671-1, Arg-406, CHEBI:30011 | anti-Muellerian hormone type-2 receptor sequence variant 4 (human) "An anti-Muellerian hormone type-2 receptor (human) that has a Gln residue at the position equivalent to Arg-406 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, Arg-406, CHEBI:30011." [PMID:11549681, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:11549681 |
PR:000000079 hAMHR2/var:D426G UniProtKB:Q16671, Asp-426, CHEBI:29947 | UniProtKB:Q16671-1, Asp-426, CHEBI:29947 | anti-Muellerian hormone type-2 receptor sequence variant 5 (human) "An anti-Muellerian hormone type-2 receptor (human) that has a Gly residue at the position equivalent to Asp-426 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, Asp-426, CHEBI:29947." [PMID:8872466, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000080 hAMHR2/var:V458A UniProtKB:Q16671, Val-458, CHEBI:46217 | UniProtKB:Q16671-1, Val-458, CHEBI:46217 | anti-Muellerian hormone type-2 receptor sequence variant 6 (human) "An anti-Muellerian hormone type-2 receptor (human) that has an Ala residue at the position equivalent to Val-458 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, Val-458, CHEBI:46217." [PMID:8872466, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000081 hAMHR2/var:D491H UniProtKB:Q16671, Asp-491, CHEBI:29979 | UniProtKB:Q16671-1, Asp-491, CHEBI:29979 | anti-Muellerian hormone type-2 receptor sequence variant 7 (human) "An anti-Muellerian hormone type-2 receptor (human) that has a His residue at the position equivalent to Asp-491 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, Asp-491, CHEBI:29979." [PMID:8872466, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:000000082 hAMHR2/var:R504C UniProtKB:Q16671, Arg-504, CHEBI:29950 | UniProtKB:Q16671-1, Arg-504, CHEBI:29950 | anti-Muellerian hormone type-2 receptor sequence variant 8 (human) "An anti-Muellerian hormone type-2 receptor (human) that has a Cys residue at the position equivalent to Arg-504 of the amino acid sequence represented by UniProtKB:Q16671-1. Example: UniProtKB:Q16671-1, Arg-504, CHEBI:29950." [PMID:8872466, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050791 persistent Mullerian duct syndrome |
PMID:8872466 |
PR:Q16671-1 hAMHR2/iso:1
"An anti-Muellerian hormone type-2 receptor isoform 1 that is encoded in the genome of human." [PMID:10589763, PRO:CNA] |
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
"An anti-Muellerian hormone type-2 receptor isoform 1 that is encoded in the genome of mouse." [PMID:23624077, PMID:9299437, PRO:HJD] |
acts_upstream_of_or_within | GO:0007548 sex differentiation |
PMID:8895659 |
GO:1990262 anti-Mullerian hormone signaling pathway |
MGI:5499265; PMID:23624077 |
enables | GO:1990272 anti-Mullerian hormone receptor activity |
MGI:5499265; PMID:23624077 |
PR:R4JKA2 mAMHR2/iso:Delta2 anti-Muellerian hormone type-2 receptor isoform 2 (mouse) "An anti-Muellerian hormone type-2 receptor isoform Delta2 that is encoded in the genome of mouse. This sequence lacks the region encoded by exon 2 which is part of the extracellular domain and it is essential for ligand binding." [EMBL:KC920727, PMID:23624077, PRO:HJD] |
acts_upstream_of_or_within | GO:1902613 negative regulation of anti-Mullerian hormone signaling pathway |
MGI:5499265; PMID:23624077 |
PR:R4JNM3 mAMHR2/iso:Delta9/10
"An anti-Muellerian hormone type-2 receptor isoform Delta9/10 that is encoded in the genome of mouse. This sequence lacks the region encoded by exons 9 and 10, which is part of the protein kinase domain." [EMBL:KC920726, PMID:23624077, PRO:HJD] |
acts_upstream_of_or_within | GO:1902613 negative regulation of anti-Mullerian hormone signaling pathway |
MGI:5499265; PMID:23624077 |