anti-müllerian hormone receptor anti-müllerian hormone receptor anti-müllerian hormone receptor is a receptor for the anti-müllerian hormone. furthermore, anti-mullerian hormone receptor type 2 is a protein in humans that is encoded by the amhr2 gene. amhr2identifiersaliasesamhr2, amhr, misr2, misrii, mrii, anti-mullerian hormone receptor type 2external idsomim: 600956 mgi: 105062 homologene: 10746 genecards: amhr2 gene location (human)chr.chromosome 12 (human)band12q13.13start53,423,855 bpend53,431,672 bpgene location (mouse)chr.chromosome 15 (mouse)band15 f3|15 57.58 cmstart102,353,802 bpend102,363,068 bprna expression patternbgeehumanmouse (ortholog)top expressed inleft adrenal glandbody of pancreasskeletal muscle tissuespleengerminal epitheliumgastrocnemius musclebonebone marrowsensory systemsensory organtop expressed inseminiferous tubulespermatocytefacial motor nucleusovaryepithelium of urethrasoleus muscletriceps brachii musclespermatidmorulacumulus cellmore reference expression databiogpsn/agene ontologymolecular function transferase activity nucleotide binding protein kinase activity hormone binding transforming growth factor beta receptor activity, type ii metal ion binding kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity protein binding atp binding anti-mullerian hormone receptor activity transforming growth factor beta-activated receptor activity growth factor binding smad binding cellular component integral component of membrane membrane integral component of plasma membrane plasma membrane receptor complex biological process male gonad development phosphorylation sex differentiation female gonad development negative regulation of anti-mullerian hormone signaling pathway mullerian duct regression protein phosphorylation transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway bmp signaling pathway anti-mullerian hormone signaling pathway pattern specification process sources:amigo / quickgoorthologsspecieshumanmouseentrez269110542ensemblensg00000135409ensmusg00000023047uniprotq16671q8k592refseq (mrna)nm_001164690nm_001164691nm_020547nm_144547nm_001356575refseq (protein)np_001158162np_001158163np_065434np_653130np_001343504location (ucsc)chr 12: 53.42 – 53.43 mbchr 15: 102.35 – 102.36 mbpubmed searchwikidataview/edit humanview/edit mouse function both men and women have this gene. amhr2 is a type 2 receptor that binds amh (anti-mullerian hormone). this hormone is responsible for mullerian duct regression in vertebrates once the sry gene has been expressed. some animals such as jawless fish do not express either amh or amhr2. high circulating amh continues on after testis development and is secreted from the sertoli cells. it has been reported that the loss of function of the amhr2 gene results in 50% of xy animals to reverse sex to females and also leads to hyperproliferation of mitotically active germ cells, which leads to the sex reversal. amh binding to the amhr2 in mammals causes regression of the oviducts, uterus, and upper 2/3 of the vagina. a syndrome called "persistent mullerian duct syndrome" (pmds) can occur in human males and results in the uterus, vagina, and uterus being present in virilized male. pmds can be caused by a genetic mutation of deletions, or missenses, and these males often have undescended testes or cryptorchidism, where one testis fails to descend outside of the body cavity. the majority of these patients will be infertile. in females that are homozygous for the mutation, no abnormalities have been observed. however, heterozygous females have been observed to reach menopause sooner and display a lowered amh level which also is an indicator of antral follicle count. it is likely that these females reach menopause sooner from having fewer antral follicles, thus more atresia of follicles prior to developing an antrum. these phenotypes were confirmed to be the cause of an amhr2 mutation from knock out studies performed in mice. pathology the anti-müllerian hormone receptor (müllerian inhibiting substance type ii receptor) can be responsible for persistent müllerian duct syndrome. müllerian inhibiting substance type ii receptor (misiir), also known as the anti-müllerian hormone receptor, is expressed by ovarian, breast, and prostate cancers and these cancer cells have been reported to apoptose in response to exposure to the müllerian inhibiting substance (mis). antibodies have been developed that specifically target misiir and may be useful as vehicles for drugs and toxins for targeted cancer therapy.