AMHR2 - anti-Mullerian hormone receptor type 2 Gene

Also Known as AMHR; MRII; MISR2; MISRII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 269

About AMHR2

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,423,855-53,431,672 (from NCBI)

This gene has 7 transcripts (splice variants), 179 orthologues, 11 paralogues and is associated with 2 phenotypes. Biased expression in ovary (RPKM 12.2), adrenal (RPKM 9.0) and 3 other tissues.

Summary

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]

AMHR2 Products (17)

mRNA	Protein	Name
XM_011538173.2	XP_011536475.1	anti-Muellerian hormone type-2 receptor isoform X1
XM_011538176.2	XP_011536478.1	anti-Muellerian hormone type-2 receptor isoform X3
XM_011538180.2	XP_011536482.1	anti-Muellerian hormone type-2 receptor isoform X6
XM_011538185.2	XP_011536487.1	anti-Muellerian hormone type-2 receptor isoform X12
XM_011538174.2	XP_011536476.1	anti-Muellerian hormone type-2 receptor isoform X2
XM_047428700.1	XP_047284656.1	anti-Muellerian hormone type-2 receptor isoform X14
NM_001164690.2	NP_001158162.1	anti-Muellerian hormone type-2 receptor isoform 2 precursor
XM_011538184.2	XP_011536486.1	anti-Muellerian hormone type-2 receptor isoform X11
XM_017019179.2	XP_016874668.1	anti-Muellerian hormone type-2 receptor isoform X9
XM_011538179.2	XP_011536481.1	anti-Muellerian hormone type-2 receptor isoform X5
XM_011538183.2	XP_011536485.1	anti-Muellerian hormone type-2 receptor isoform X10
NM_020547.3	NP_065434.1	anti-Muellerian hormone type-2 receptor isoform 1 precursor
NM_001164691.2	NP_001158163.1	anti-Muellerian hormone type-2 receptor isoform 3 precursor
XM_024448938.2	XP_024304706.1	anti-Muellerian hormone type-2 receptor isoform X8
XM_011538181.2	XP_011536483.1	anti-Muellerian hormone type-2 receptor isoform X7
XM_011538178.2	XP_011536480.1	anti-Muellerian hormone type-2 receptor isoform X4
XM_011538186.4	XP_011536488.1	anti-Muellerian hormone type-2 receptor isoform X13

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables anti-Mullerian hormone receptor activity	IDA IDA: Inferred from direct assay	10854429	GOA
enables anti-Mullerian hormone receptor activity	IMP IMP: Inferred from mutant phenotype	7493017	GOA
enables hormone binding	IPI IPI: Inferred from physical interaction	14750901	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10854429	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	11549681	GOA
enables transforming growth factor beta receptor activity, type II	IDA IDA: Inferred from direct assay	10854429	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in anti-Mullerian hormone receptor signaling pathway	IDA IDA: Inferred from direct assay	10854429	GOA
involved in anti-Mullerian hormone receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	7493017	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	11549681	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMHR2 Protein Structure

Activin_recp

Pkinase

0
100
200
300
400
500
573 a.a.

Protein Preferred Names	Protein Names
anti-Muellerian hormone type-2 receptor	AMH type II receptor MIS type II receptor Muellerian inhibiting substance type II receptor Mullerian inhibiting substance type II receptor anti-Muellerian hormone type II receptor anti-Mullerian hormone receptor, type II

AMHR2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AMHR2	Q16671	CDC37	Homo sapiens	Q16543	Anti Tag CoIP	33961781
Intra	AMHR2	Q16671	HSP90AA1	Homo sapiens	P07900	Anti Tag CoIP	33961781
Intra	AMHR2	Q16671	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	33961781
Intra	AMHR2	Q16671	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	22939624

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AMHR2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77870	AMHR2/MISRII Protein, Human (HEK293, Fc)	Q16671-1 (P18-S144)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P700953	AMHR2/MISRII Protein, Human (HEK293)	Q16671-1 (P18-S144)	≥ 95%, as determined by reducing SDS-PAGE.

AMHR2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81592	AMHR2 Antibody (YA1337)	FC, ELISA	Human

Related Diseases

Diseases	Alias
Herpangina	Vesicular Pharyngitis
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Persistent Mullerian Duct Syndrome, Types I And Ii	Persistent Mullerian Duct Syndrome, Type Ii Persistent Mullerian Duct Syndrome, Type I PMDS Pseudohermaphroditism, Male Internal Hernia Uteri Inguinale Persistent Oviduct Syndrome Female Genital Ducts In Otherwise Normal Male Persistent Muellerian Duct Syndrome 1 PMDS1 Persistent Muellerian Duct Syndrome Type I Pmds-1 Persistent Muellerian Duct Syndrome 2 PMDS2 Persistent Muellerian Duct Syndrome Type Ii Pmds-2 Mullerian Duct Syndrome. Persistent, Types I And Ii
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
West Nile Encephalitis	West-Nile Encephalitis West Nile Fever West Nile Fever Encephalitis West Nile Fever With Encephalitis West-Nile Fever Encephalitis, West Nile Fever
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Cancer Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Luteoma	Leuteoma Of Pregnancy Luteoma Of Pregnancy
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Genetic Non-Acquired Premature Ovarian Failure
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Testicular Disease	Testicular Dysfunction Testicular Diseases Disorder Of Testis Testis Disorder Testicular Disorders
Sex Cord-Gonadal Stromal Tumor	Sex Cord Stromal Tumour Sex Cord-Gonadal Stromal Tumour Sex Cord-Stromal Neoplasm Specialized Gonadal Neoplasm Specialized Gonadal Tumor Specialized Gonadal Tumour Sex Cord-Gonadal Stromal Tumors Sex Cord-Stromal Tumor Malignant Testicular Sex Cord-Stromal Tumor Sex Cord Stromal Tumor Of Testis
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
Hermaphroditism
Anovulation
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Salivary Gland Disease	Salivary Gland Disorders Salivary Gland Diseases Non-Neoplastic Salivary Gland Disease Non-Neoplastic Salivary Gland Disorder Disorder Of Salivary Gland Lesion Of Salivary Gland Nos
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Persistent Mullerian Duct Syndrome	Persistent Müllerian Duct Syndrome Pmds Persistent Oviduct Syndrome Persistent Muellerian Duct Syndrome Female Genital Ducts In Otherwise Normal Male Hernia Uteri Inguinale Persistent Mullerian Duct Syndrome, Types 1 And 2 Persistent Mullerian Derivatives
Spermatocele
Disorder Of Sexual Development	Disorder Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Disorders Of Sex Development Sex Differentiation Disorders
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Murcs Association Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2 Mrkh Syndrome Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 MURCS Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina Atypical Mrkh Syndrome Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii Mrkh, Type Ii Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia Klippel-Feil Deformity - Conductive Deafness - Absent Vagina Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia
Mixed Gonadal Dysgenesis	Gonadal Dysgenesis Mixed Gonadal Dysgenesis, Mixed
Mayer-Rokitansky-Kuster-Hauser Syndrome	Mrkh Syndrome Rokitansky Syndrome Mullerian Aplasia Mrkh Anomaly Congenital Absence Of Uterus And Vagina Congenital Absence Of The Uterus And Vagina Genital Renal Ear Syndrome Mayer-Rokitansky-Küster-Hauser Syndrome Mullerian Dysgenesis Müllerian Agenesis Rokitansky Kuster Hauser Syndrome MRKH Mullerian Aplasia/Dysgenesis Von Mayer-Rokitansky-Kuster Anomaly Mrk Anomaly Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida Cauv Mullerian Agenesis Aplasia Of The Mullerian Ducts Mullerian Duct Failure Müllerian Aplasia Rokitansky-Kuster-Hauser Syndrome RKH SYNDROME
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00654	AMHR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00655	Amhr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00656	Amhr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174780	Human AMHR2 mRNA		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AMHR2	VGNC	VGNC:67494
Mus musculus	AMHR2	MGD	MGI:105062
Macaca mulatta	AMHR2	VGNC	VGNC:69805
Bos taurus	AMHR2	VGNC	VGNC:54403
Canis familiaris	AMHR2	VGNC	VGNC:37830
Rattus norvegicus	AMHR2	RGD	RGD:70964
Others	AMHR2	NCBI