Anti-Müllerian hormone receptor

Anti-Müllerian hormone receptor is a receptor for anti-Müllerian hormone. Anti-Mullerian hormone receptor type 2 is a protein that in humans is encoded by the AMHR2 gene.[5]

AMHR2
Identifiers
Aliases	AMHR2, AMHR, MISR2, MISRII, MRII, anti-Mullerian hormone receptor type 2
External IDs	OMIM: 600956 MGI: 105062 HomoloGene: 10746 GeneCards: AMHR2
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.13 Start 53,423,855 bp[1] End 53,431,672 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 F3|15 57.58 cM Start 102,445,367 bp[2] End 102,454,633 bp[2]
Gene ontology Molecular 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 • GO:0001948 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 • cell 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 / QuickGO
Orthologs
Species	Human	Mouse
Entrez	269	110542
Ensembl	ENSG00000135409	ENSMUSG00000023047
UniProt	Q16671	Q8K592
RefSeq (mRNA)	NM_001164690 NM_001164691 NM_020547	NM_144547 NM_001356575
RefSeq (protein)	NP_001158162 NP_001158163 NP_065434	NP_653130 NP_001343504
Location (UCSC)	Chr 12: 53.42 – 53.43 Mb	Chr 15: 102.45 – 102.45 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009].

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).[6]

Antibodies have been developed that specifically target MISIIR and may be useful as vehicles for drugs and toxins for targeted cancer therapy.[7][8][9]

References

1. GRCh38: Ensembl release 89: ENSG00000135409 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023047 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Anti-Mullerian hormone receptor type 2". Retrieved 2018-06-07.
6. Masiakos PT, MacLaughlin DT, Maheswaran S, Teixeira J, Fuller AF, Shah PC, Kehas DJ, Kenneally MK, Dombkowski DM, Ha TU, Preffer FI, Donahoe PK (November 1999). "Human ovarian cancer, cell lines, and primary ascites cells express the human Mullerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS". Clinical Cancer Research. 5 (11): 3488–99. PMID 10589763.
7. Yuan QA, Robinson MK, Simmons HH, Russeva M, Adams GP (March 2008). "Isolation of anti-MISIIR scFv molecules from a phage display library by cell sorter biopanning". Cancer Immunology, Immunotherapy. 57 (3): 367–78. doi:10.1007/s00262-007-0376-2. PMID 17676323.
8. Yuan QA, Simmons HH, Robinson MK, Russeva M, Marasco WA, Adams GP (August 2006). "Development of engineered antibodies specific for the Müllerian inhibiting substance type II receptor: a promising candidate for targeted therapy of ovarian cancer". Molecular Cancer Therapeutics. 5 (8): 2096–105. doi:10.1158/1535-7163.MCT-06-0115. PMID 16928831.
9. Salhi I, Cambon-Roques S, Lamarre I, Laune D, Molina F, Pugnière M, Pourquier D, Gutowski M, Picard JY, Xavier F, Pèlegrin A, Navarro-Teulon I (May 2004). "The anti-Müllerian hormone type II receptor: insights into the binding domains recognized by a monoclonal antibody and the natural ligand". The Biochemical Journal. 379 (Pt 3): 785–93. doi:10.1042/BJ20031961. PMC 1224123. PMID 14750901.

• This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Further reading

• Teixeira J, Maheswaran S, Donahoe PK (October 2001). "Müllerian inhibiting substance: an instructive developmental hormone with diagnostic and possible therapeutic applications". Endocr. Rev. 22 (5): 657–74. doi:10.1210/edrv.22.5.0445. PMID 11588147.
• Picard JY, Belville C (2002). "[Genetics and molecular pathology of anti-Mullerian hormone and its receptor]". J. Soc. Biol. (in French). 196 (3): 217–21. PMID 12462075.
• Wang HQ, Takakura K, Takebayashi K, Noda Y (December 2002). "Mutational analysis of the müllerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure". Fertil. Steril. 78 (6): 1329–30. doi:10.1016/s0015-0282(02)04351-0. PMID 12477536.
• Salhi I, Cambon-Roques S, Lamarre I, Laune D, Molina F, Pugnière M, Pourquier D, Gutowski M, Picard JY, Xavier F, Pèlegrin A, Navarro-Teulon I (May 2004). "The anti-Müllerian hormone type II receptor: insights into the binding domains recognized by a monoclonal antibody and the natural ligand". Biochem. J. 379 (Pt 3): 785–93. doi:10.1042/BJ20031961. PMC 1224123. PMID 14750901.
• Kevenaar ME, Themmen AP, Laven JS, Sonntag B, Fong SL, Uitterlinden AG, de Jong FH, Pols HA, Simoni M, Visser JA (June 2007). "Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women". Hum. Reprod. 22 (6): 1547–54. doi:10.1093/humrep/dem036. PMID 17337470.
• Kevenaar ME, Themmen AP, Laven JS, Sonntag B, Fong SL, Uitterlinden AG, de Jong FH, Pols HA, Simoni M, Visser JA (June 2007). "Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women". Hum. Reprod. 22 (6): 1547–54. doi:10.1093/humrep/dem036. PMID 17337470.
• Kevenaar ME, Themmen AP, Rivadeneira F, Uitterlinden AG, Laven JS, van Schoor NM, Lips P, Pols HA, Visser JA (September 2007). "A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity". Hum. Reprod. 22 (9): 2382–8. doi:10.1093/humrep/dem176. PMID 17636279.
• Kevenaar ME, Themmen AP, Rivadeneira F, Uitterlinden AG, Laven JS, van Schoor NM, Lips P, Pols HA, Visser JA (September 2007). "A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity". Hum. Reprod. 22 (9): 2382–8. doi:10.1093/humrep/dem176. PMID 17636279.
• Bakkum-Gamez JN, Aletti G, Lewis KA, Keeney GL, Thomas BM, Navarro-Teulon I, Cliby WA (January 2008). "Müllerian inhibiting substance type II receptor (MISIIR): a novel, tissue-specific target expressed by gynecologic cancers". Gynecol. Oncol. 108 (1): 141–8. doi:10.1016/j.ygyno.2007.09.010. PMID 17988723.

External links

• Anti-Mullerian+hormone+receptor at the US National Library of Medicine Medical Subject Headings (MeSH)