1. Gene
  2. AMHR2 - anti-Mullerian hormone receptor type 2 Gene

AMHR2 - anti-Mullerian hormone receptor type 2 Gene

Homo sapiens

Also known as AMHR; MRII; MISR2; MISRII

Gene ID: 269 | Gene type: protein coding

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

AMHR2 Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (54 - 122)

Pkinase

Pkinase: Protein kinase domain (206 - 503)

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  • 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

Recombinant AMHR2 Proteins

Cat. No. Product Name Accession Purity
HY-P77870 AMHR2/MISRII Protein, Human (HEK293, Fc) Q16671 (P18-S144) ≥95%
HY-P700953 AMHR2/MISRII Protein, Human (HEK293) Q16671-1 (P18-S144) ≥95%

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

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
Macaca fascicularis AMHR2 NCBI NCBI:102117592
Others AMHR2 NCBI