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Aliases for AMHR2 Gene

Aliases for AMHR2 Gene

  • Anti-Mullerian Hormone Receptor, Type II 2 3
  • AMHR 3 4 6
  • 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 64
  • MISRII 3 4
  • MISR2 3 4
  • MRII 3 4
  • Mullerian Inhibiting Substance Type II Receptor 3
  • Anti-Muellerian Hormone Type-2 Receptor 3

External Ids for AMHR2 Gene

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 II) 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 TGF-beta/Smad Signaling and PEDF Induced Signaling. GO annotations related to this gene include receptor activity and transforming growth factor beta receptor activity, type II. An important paralog of this gene is TGFBR2.

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

Genomic Location for AMHR2 Gene

Start:
53,423,811 bp from pter
End:
53,431,654 bp from pter
Size:
7,844 bases
Orientation:
Plus strand

Genomic View for AMHR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMHR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMHR2 Gene

Regulatory Elements 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

Proteomics data for AMHR2 Gene at MOPED

Selected DME Specific Peptides for AMHR2 Gene

Post-translational modifications for AMHR2 Gene

  • Glycosylation at Asn66 and Asn119

Other Protein References for AMHR2 Gene

Domains for AMHR2 Gene

UniProtKB/Swiss-Prot:

AMHR2_HUMAN
Domain:
  • Contains 1 protein kinase domain.:
    • Q16671
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • Q16671
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 --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity --
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
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

Animal Models for AMHR2 Gene

MGI Knock Outs for AMHR2:

miRNA for AMHR2 Gene

miRTarBase miRNAs that target AMHR2

No data available for Transcription Factor Targeting 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 3
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 --
genes like me logo Genes that share ontologies with AMHR2: view

Pathways 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

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:0007179 transforming growth factor beta receptor signaling pathway IEA --
GO:0007548 sex differentiation TAS 12834017
genes like me logo Genes that share ontologies with AMHR2: view

Compounds for AMHR2 Gene

(4) HMDB Compounds for AMHR2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(1) Drugbank Compounds for AMHR2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine triphosphate
  • 5'-ATP
56-65-5 target

(1) Novoseek inferred chemical compound relationships for AMHR2 Gene

Compound -log(P) Hits PubMed IDs
testosterone 39.3 1
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:

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 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 (23.6), Ovary (12.9), and Testis (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AMHR2 Gene

SOURCE GeneReport for Unigene cluster for AMHR2 Gene Hs.659889

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

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 36
  • 99.65 (n)
  • 99.65 (a)
AMHR2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMHR2 36
  • 85.88 (n)
  • 84.51 (a)
AMHR2 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMHR2 36
  • 88.65 (n)
  • 85.56 (a)
AMHR2 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amhr2 36
  • 82.26 (n)
  • 79.39 (a)
Amhr2 16
Amhr2 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amhr2 36
  • 81.75 (n)
  • 78.64 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia AMHR2 37
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498418 36
  • 48.94 (n)
  • 40.47 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-101k6.5 37
  • 22 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta wit 37
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 24 (a)
ManyToMany
Species with no ortholog for AMHR2:
  • 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

Selected SIMAP similar genes for AMHR2 Gene using alignment to 2 proteins:

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

Variants for AMHR2 Gene

Sequence variations from dbSNP and Humsavar for AMHR2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs784887 -- 53,432,086(-) aaata(A/C)aaaaa downstream-variant-500B
rs784888 -- 53,430,724(-) TAGAA(C/G)TGCCT intron-variant
rs784889 -- 53,430,624(-) AGATG(A/G)GGCAG intron-variant, downstream-variant-500B
rs784890 -- 53,429,523(-) GCACA(C/T)GATCC synonymous-codon, reference, intron-variant, utr-variant-3-prime
rs784891 -- 53,429,208(-) TCACC(A/G)TGTTA intron-variant

Relevant External Links for AMHR2 Gene

HapMap Linkage Disequilibrium report
AMHR2
Human Gene Mutation Database (HGMD)
AMHR2

No data available for Structural Variations from Database of Genomic Variants (DGV) for AMHR2 Gene

Disorders for AMHR2 Gene

(1) OMIM Diseases for AMHR2 Gene (600956)

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.

(2) University of Copenhagen DISEASES for AMHR2 Gene

(6) Novoseek inferred disease relationships for AMHR2 Gene

Disease -log(P) Hits PubMed IDs
congenital absence 54 1
ovarian cancer 39.6 1
cervical cancer 15.6 2
prostate cancer 10.7 1
breast cancer 7.23 1

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

Publications for AMHR2 Gene

  1. 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 23
  2. 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 23 49
  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
  4. A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity. (PMID: 17636279) Kevenaar M.E. … Visser J.A. (Hum. Reprod. 2007) 3 23
  5. Anti-Mullerian hormone, its receptor, FSH receptor, and androgen receptor genes are overexpressed by granulosa cells from stimulated follicles in women with polycystic ovary syndrome. (PMID: 18697861) Catteau-Jonard S. … di Clemente N. (J. Clin. Endocrinol. Metab. 2008) 3 23

Products for AMHR2 Gene

  • Addgene plasmids for AMHR2

Sources for AMHR2 Gene

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