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Aliases for AMHR2 Gene

Aliases for AMHR2 Gene

  • Anti-Mullerian Hormone Receptor Type 2 2 3 5
  • Muellerian Inhibiting Substance Type II Receptor 2 3
  • Anti-Muellerian Hormone Type II Receptor 3 4
  • AMH Type II Receptor 3 4
  • MIS Type II Receptor 3 4
  • EC 2.7.11.30 4 61
  • MISRII 3 4
  • MISR2 3 4
  • AMHR 3 4
  • MRII 3 4
  • Mullerian Inhibiting Substance Type II Receptor 3
  • Anti-Mullerian Hormone Receptor, Type II 3
  • Anti-Mullerian Hormone Receptor Type II 2
  • Anti-Muellerian Hormone Type-2 Receptor 3

External Ids for AMHR2 Gene

Previous GeneCards Identifiers for AMHR2 Gene

  • GC12P053823
  • GC12P053925
  • GC12P053534
  • GC12P052103
  • GC12P050858

Summaries for AMHR2 Gene

Entrez Gene Summary for AMHR2 Gene

  • 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]

GeneCards Summary for AMHR2 Gene

AMHR2 (Anti-Mullerian Hormone Receptor Type 2) is a Protein Coding gene. Diseases associated with AMHR2 include Persistent Mullerian Duct Syndrome, Type Ii and Persistent Mullerian Duct Syndrome. Among its related pathways are Wnt / Hedgehog / Notch and TGF-beta signaling pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity.

UniProtKB/Swiss-Prot for AMHR2 Gene

  • On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMHR2 Gene

Genomics for AMHR2 Gene

Regulatory Elements for AMHR2 Gene

Enhancers for AMHR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F053451 1.2 ENCODE 13.1 +29.1 29077 3.1 CREB3L1 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SP1 AAAS IGFBP6 PFDN5 LOC105378250 AMHR2 MIR3198-2 ENSG00000258344 ENSG00000260470 MAP3K12
GH12F053378 1.1 ENCODE 12.9 -42.9 -42928 5.6 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A FEZF1 DMAP1 ZNF2 YY1 SP1 PRR13 AAAS HOXC8 HOXC9 MAP3K12 ENSG00000258086 AMHR2 SP7 HOXC5
GH12F053482 0.8 ENCODE 10.9 +59.7 59743 1.3 ZNF146 SIN3A ZFHX2 GLIS2 POLR2A ZNF366 SCRT2 ZNF600 PAF1 SCRT1 AAAS NPFF AMHR2 ATF7 PRR13 MAP3K12 ENSG00000273658
GH12F053492 1 ENCODE 10.9 +69.6 69572 2.6 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 ZNF207 SP3 PRR13 AMHR2 AAAS ATF7 SP1 MAP3K12 ENSG00000273658
GH12F053320 0.2 ENCODE 10.8 -102.5 -102468 2.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 AAAS ESPL1 PFDN5 MIR3198-2 IGFBP6 MAP3K12 SP1 ENSG00000258344 C12orf10 ENSG00000260470
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AMHR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMHR2 Gene

Chromosome:
12
Start:
53,423,855 bp from pter
End:
53,431,534 bp from pter
Size:
7,680 bases
Orientation:
Plus strand

Genomic View for AMHR2 Gene

Genes around AMHR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMHR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMHR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMHR2 Gene

Proteins for AMHR2 Gene

  • Protein details for AMHR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16671-AMHR2_HUMAN
    Recommended name:
    Anti-Muellerian hormone type-2 receptor
    Protein Accession:
    Q16671
    Secondary Accessions:
    • A0AVE1
    • B9EGB7
    • E9PGD2
    • F8W1D2
    • Q13762
    • Q647K2

    Protein attributes for AMHR2 Gene

    Size:
    573 amino acids
    Molecular mass:
    62750 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AMHR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMHR2 Gene

Selected DME Specific Peptides for AMHR2 Gene

Q16671:
  • DFCNANYSHLPP
  • PPPFQLAYEAELG
  • GLRELLEDCWDADPEARLTAECVQQRL

Post-translational modifications for AMHR2 Gene

  • Glycosylation at Asn 66 and Asn 119
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AMHR2 (MISR2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for AMHR2

Domains & Families for AMHR2 Gene

Suggested Antigen Peptide Sequences for AMHR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q16671

UniProtKB/Swiss-Prot:

AMHR2_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with AMHR2: view

Function for AMHR2 Gene

Molecular function for AMHR2 Gene

GENATLAS Biochemistry:
anti-Mullerian hormone receptor TGF,beta superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot Function:
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.

Enzyme Numbers (IUBMB) for AMHR2 Gene

Gene Ontology (GO) - Molecular Function for AMHR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA --
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
GO:0004872 receptor activity IMP 7493017
genes like me logo Genes that share ontologies with AMHR2: view
genes like me logo Genes that share phenotypes with AMHR2: view

Human Phenotype Ontology for AMHR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMHR2 Gene

MGI Knock Outs for AMHR2:

Animal Model Products

miRNA for AMHR2 Gene

miRTarBase miRNAs that target AMHR2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for AMHR2 Gene

Localization for AMHR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMHR2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMHR2 Gene COMPARTMENTS Subcellular localization image for AMHR2 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AMHR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AMHR2: view

Pathways & Interactions for AMHR2 Gene

genes like me logo Genes that share pathways with AMHR2: view

Pathways by source for AMHR2 Gene

1 Cell Signaling Technology pathway for AMHR2 Gene
1 BioSystems pathway for AMHR2 Gene

SIGNOR curated interactions for AMHR2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for AMHR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001880 Mullerian duct regression NAS 14750901
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IMP 7493017
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with AMHR2: view

Drugs & Compounds for AMHR2 Gene

(5) Drugs for AMHR2 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 1746
Manganese Approved Nutra 34
Magnesium Nutra 0

(1) Additional Compounds for AMHR2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with AMHR2: view

Transcripts for AMHR2 Gene

Unigene Clusters for AMHR2 Gene

Anti-Mullerian hormone receptor, type II:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMHR2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for AMHR2 Gene

GeneLoc Exon Structure for
AMHR2
ECgene alternative splicing isoforms for
AMHR2

Expression for AMHR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMHR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMHR2 Gene

This gene is overexpressed in Adrenal Gland (x23.6), Ovary (x12.9), and Testis (x5.5).

Protein differential expression in normal tissues from HIPED for AMHR2 Gene

This gene is overexpressed in Stomach (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AMHR2 Gene



Protein tissue co-expression partners for AMHR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AMHR2 Gene:

AMHR2

SOURCE GeneReport for Unigene cluster for AMHR2 Gene:

Hs.659889
genes like me logo Genes that share expression patterns with AMHR2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for AMHR2 Gene

Orthologs for AMHR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AMHR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMHR2 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia AMHR2 34 35
  • 88.65 (n)
cow
(Bos Taurus)
Mammalia AMHR2 34 35
  • 85.88 (n)
mouse
(Mus musculus)
Mammalia Amhr2 34 16 35
  • 82.26 (n)
rat
(Rattus norvegicus)
Mammalia Amhr2 34
  • 81.75 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia AMHR2 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498418 34
  • 48.94 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-101k6.5 35
  • 22 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta wit 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
ManyToMany
Species where no ortholog for AMHR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AMHR2 Gene

ENSEMBL:
Gene Tree for AMHR2 (if available)
TreeFam:
Gene Tree for AMHR2 (if available)

Paralogs for AMHR2 Gene

(1) SIMAP similar genes for AMHR2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AMHR2: view

No data available for Paralogs for AMHR2 Gene

Variants for AMHR2 Gene

Sequence variations from dbSNP and Humsavar for AMHR2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs137853104 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550], Pathogenic 53,429,907(+) CCTCC(A/G)ACGAG intron-variant, downstream-variant-500B, reference, missense
rs534999427 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] 53,424,398(+) CTATC(C/T)GCTGC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs539695176 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] 53,425,913(+) CTGCA(G/T)CCCAA reference, missense
rs772294564 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] 53,431,261(+) AGCAG(C/T)GCCTG reference, missense, utr-variant-3-prime
rs775889926 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] 53,430,230(+) GGCAG(C/T)GCAGG intron-variant, reference, missense

Variation tolerance for AMHR2 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMHR2 Gene

Human Gene Mutation Database (HGMD)
AMHR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMHR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AMHR2 Gene

Disorders for AMHR2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AMHR2 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
persistent mullerian duct syndrome, type ii
  • persistent mullerian duct syndrome, type i
persistent mullerian duct syndrome
  • persistent muellerian duct syndrome
mixed gonadal dysgenesis
  • gonadal dysgenesis mixed
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
anovulation
- elite association - COSMIC cancer census association via MalaCards
Search AMHR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMHR2_HUMAN
  • Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. {ECO:0000269 PubMed:11549681, ECO:0000269 PubMed:8872466}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for AMHR2 Gene

persistent Mullerian duct syndrome

Relevant External Links for AMHR2

Genetic Association Database (GAD)
AMHR2
Human Genome Epidemiology (HuGE) Navigator
AMHR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMHR2
genes like me logo Genes that share disorders with AMHR2: view

Publications for AMHR2 Gene

  1. Anti-MA1llerian hormone and anti-MA1llerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women. (PMID: 17337470) Kevenaar M.E. … Visser J.A. (Hum. Reprod. 2007) 3 22 46 64
  2. Human ovarian cancer, cell lines, and primary ascites cells express the human Muellerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS. (PMID: 10589763) Masiakos P.T. … Donahoe P.K. (Clin. Cancer Res. 1999) 3 4 22 64
  3. Insensitivity to anti-Muellerian hormone due to a mutation in the human anti-Muellerian hormone receptor. (PMID: 7493017) Imbeaud S. … Picard J.-Y. (Nat. Genet. 1995) 2 3 4 64
  4. Association study of AMH and AMHRII polymorphisms with unexplained infertility. (PMID: 19539910) Rigon C. … Clementi M. (Fertil. Steril. 2010) 3 46 64
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64

Products for AMHR2 Gene

Sources for AMHR2 Gene

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