Quaternary Structure: Complexes

Anti-Müllerian hormone receptors

Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	1	573	12q13.13	AMHR2	anti-Mullerian hormone receptor type 2
Mouse	1	568	15 57.58 cM	Amhr2	anti-Mullerian hormone type 2 receptor
Rat	1	557	7q36	Amhr2	anti-Mullerian hormone receptor type 2

Previous and Unofficial Names

AMH type II receptor | anti-Mullerian hormone type 2 receptor | MIS type II receptor | MISIIR | MISR2 | anti-Mullerian hormone receptor type II | anti-Mullerian hormone receptor

Database Links
Alphafold	Q16671 (Hs), Q8K592 (Mm), Q62893 (Rn)
BRENDA	2.7.11.30
Ensembl Gene	ENSG00000135409 (Hs), ENSMUSG00000023047 (Mm), ENSRNOG00000014850 (Rn)
Entrez Gene	269 (Hs), 110542 (Mm), 29530 (Rn)
Human Protein Atlas	ENSG00000135409 (Hs)
KEGG Enzyme	2.7.11.30
KEGG Gene	hsa:269 (Hs), mmu:110542 (Mm), rno:29530 (Rn)
OMIM	600956 (Hs)
Orphanet	ORPHA119660 (Hs)
Pharos	Q16671 (Hs)
RefSeq Nucleotide	NM_001164690 (Hs), NM_144547 (Mm), NM_030998 (Rn)
RefSeq Protein	NP_001158162 (Hs), NP_653130 (Mm), NP_112260 (Rn)
UniProtKB	Q16671 (Hs), Q8K592 (Mm), Q62893 (Rn)
Wikipedia	AMHR2 (Hs)

Enzyme Reaction
EC Number: 2.7.11.30

Natural/Endogenous Ligands
Müllerian inhibiting substance {Sp: Human}

Phenotypes, Alleles and Disease Models

Mouse data from MGI

Show »« Hide Allele Composition & genetic background Accession Phenotype Id Phenotype Reference Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0004256 abnormal maternal decidual layer morphology PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0001930 abnormal meiosis PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0008256 abnormal myometrium morphology PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0001928 abnormal ovulation PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0001712 abnormal placenta development PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0008803 abnormal placental labyrinth vasculature morphology PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0002216 abnormal seminiferous tubule morphology PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0002216 abnormal seminiferous tubule morphology PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0008959 abnormal spongiotrophoblast cell morphology PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0004244 abnormal spontaneous abortion rate PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0006418 abnormal testis cord formation PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0003830 abnormal testis development PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0004014 abnormal uterine environment PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0001134 absent corpus luteum PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0003403 absent placental labyrinth PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0003379 absent sexual maturation PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0008261 arrest of male meiosis PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0001155 arrest of spermatogenesis PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0001155 arrest of spermatogenesis PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0005159 azoospermia PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0002286 cryptorchism PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0002780 decreased circulating testosterone level PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0002780 decreased circulating testosterone level PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0002682 decreased mature ovarian follicle number PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0001785 edema PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0008762 embryonic lethality PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0001926 female infertility PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0001914 hemorrhage PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0001729 impaired embryo implantation PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0009397 increased trophoblast giant cell number PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0009207 internal male genitalia hypoplasia PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0001925 male infertility PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0001925 male infertility PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0009444 ovarian follicular cyst PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0004834 ovary hemorrhage PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0005158 ovary hypoplasia PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0001923 reduced female fertility PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr2f2tm2.1Tsa Amhr2tm3(cre)Bhr/Amhr2+,Nr2f2tm2.1Tsa/Nr2f2tm2.1Tsa involves: 129S7/SvEvBrd MGI:105062  MGI:1352452  MP:0009089 short uterine horn PMID: 17404209  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0002768 small adrenal glands PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0001153 small seminiferous tubules PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Artm1Chc Amhr2tm3(cre)Bhr/Amhr2+,Artm1Chc/Y involves: 129S/SvEv * C57BL/6 MGI:105062  MGI:88064  MP:0001147 small testis PMID: 17142319  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0001147 small testis PMID: 15118069  Amhr2+|Amhr2tm3(cre)Bhr|Nr5a1tm1Klp|Nr5a1tm2Klp Amhr2tm3(cre)Bhr/Amhr2+,Nr5a1tm1Klp/Nr5a1tm2Klp involves: 129P2/OlaHsd MGI:105062  MGI:1346833  MP:0001940 testicular hypoplasia PMID: 15118069

Clinically-Relevant Mutations and Pathophysiology
Disease:  Persistent Mullerian duct syndrome, types I and II OMIM: 261550 Orphanet: ORPHA2856