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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMHR2 Gene

protein-coding   GIFtS: 65
GCID: GC12P053823

anti-Mullerian hormone receptor, type II
 Explore 22 diseases affiliated with
AMHR2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AMHR2    

Aliases
for AMHR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Anti-Mullerian Hormone Receptor, Type II1 2     AMH Type II Receptor2 3
MISR21 2 3     MIS Type II Receptor2 3
MISRII1 2 3     EC 2.7.11.303 8
AMHR2 3 5     Anti-Muellerian Hormone Type-2 Receptor2
Anti-Muellerian Hormone Type II Receptor2 3     Muellerian Inhibiting Substance Type II Receptor2
MRII2 3     Mullerian Inhibiting Substance Type II Receptor2

External Ids:    HGNC: 4651   Entrez Gene: 2692   Ensembl: ENSG000001354097   OMIM: 6009565   UniProtKB: Q166713   

Export aliases for AMHR2 gene to outside databases

Previous GC identifers: GC12P053925 GC12P053534 GC12P052103 GC12P050858


Summaries
for AMHR2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for AMHR2:
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)

UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
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




Genomic Views
for AMHR2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AMHR2 gene promoter:
         GR   NRSF form 1   GR-beta   Nkx2-5   NF-E2 p45   NRSF form 2   MZF-1   AREB6   GR-alpha   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AMHR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AMHR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMHR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13

AMHR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMHR2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P053823:  view genomic region     (about GC identifiers)

Start:
 53,817,639 bp from pter      End:
 53,825,318 bp from pter
Size:
 7,680 bases      Orientation:
 plus strand

Proteins
for AMHR2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671 (See protein sequence)
Recommended Name: Anti-Muellerian hormone type-2 receptor precursor  
Size: 573 amino acids; 62750 Da
Cofactor: Magnesium or manganese (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: A0AVE1 B9EGB7 E9PGD2 F8W1D2 Q13762 Q647K2
Alternative splicing: 3 isoforms:  Q16671-1   Q16671-2   Q16671-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AMHR2: NX_Q16671

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16671

    • 3 DME Specific Peptides for AMHR2 (Q16671)
     DFCNANYSHLPP  PPPFQLAYEAELG  GLRELLEDCWDADPEARLTAECVQQRL 

    AMHR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001158162.1  NP_001158163.1  NP_065434.1  

    ENSEMBL proteins: 
     ENSP00000257863   ENSP00000446661   ENSP00000369117   ENSP00000455338  

    Human Recombinant Protein Products: 
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    Uscn Proteins for AMHR2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane IEA--
    GO:0016020membrane ----


    AMHR2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for AMHR2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AMHR2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011009 Kinase-like_dom
     IPR000472 Activin_rcpt
     IPR015771 Anti-muellerian_hrmn_rcpt_II
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q16671

    ProtoNet protein and cluster: Q16671

    1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor

    UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 protein kinase domain


    Function
    for AMHR2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
    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
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for AMHR2:
    anti-Mullerian hormone receptor TGF,beta superfamily

    Enzyme Number (IUBMB): EC 2.7.11.301 2

    miRNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004675transmembrane receptor protein serine/threonine kinase activity ----
    GO:0004872receptor activity IMP7493017
    GO:0005024transforming growth factor beta-activated receptor activity ----
    GO:0005026transforming growth factor beta receptor activity, type II IEA--
    GO:0005515protein binding IPI--


    AMHR2 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for AMHR2:
     Decreased TP53 protein express  Decreased substrate adherent c  Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-out Amhr2tm1Bhr for AMHR2
         15 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Amhr2):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     no phenotypic analysis  renal/urinary system  reproductive system  respiratory system  tumorigenesis 

    AMHR2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AMHR2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TGF-beta/Smad Signaling
    		TGF-beta/Smad Signaling1.00
    2TGF-beta signaling pathway
    		TGF-beta signaling pathway1.00
    3Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling
    		ALK2 signaling events0.31
    4PEDF Induced Signaling
    		Cytokine-cytokine receptor interaction0.26

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for AMHR2
        TGF-beta/Smad Signaling

    1 BioSystems Pathway for AMHR2 
        ALK2 signaling events


    2         Kegg Pathways  (Kegg details for AMHR2):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway


    AMHR2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMHR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/20 Interacting proteins for AMHR2 (Q166711, 3 ENSP000002578634) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMHP039713, ENSP000002214964I2D: score=1 STRING: ENSP00000221496
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    BMPR1BO002383, ENSP000002645684I2D: score=1 STRING: ENSP00000264568
    TGFBR1P368973, ENSP000003641334I2D: score=1 STRING: ENSP00000364133
    YWHAZP631043I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001880Mullerian duct regression NAS14750901
    GO:0007165signal transduction IMP7493017
    GO:0007179transforming growth factor beta receptor signaling pathway IEA--
    GO:0007548sex differentiation TAS12834017


    AMHR2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AMHR2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AMHR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AMHR2

    4 HMDB Compounds for AMHR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    1 DrugBank Compound for AMHR2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423

    1 Novoseek chemical compound relationship for AMHR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    testosterone 39.3 1 19535881 (1)

    Search CenterWatch for drugs/clinical trials and news about AMHR2 

    Transcripts
    for AMHR2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for AMHR2 gene (3 alternative transcripts): 
    NM_001164690.1  NM_001164691.1  NM_020547.2  

    Unigene Cluster for AMHR2:

    Anti-Mullerian hormone receptor, type II
    Hs.659889  [show with all ESTs]
    Unigene Representative Sequence: CR627318
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257863(uc001scx.2 uc009zmy.2 uc021qyg.1) ENST00000550311
    ENST00000379791 ENST00000553037 ENST00000548303 ENST00000552233 ENST00000550839


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    Inhib. RNA
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    OriGene siRNA: AMHR2
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    Clone
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    Additional cDNA sequence: 

    AF172932.1 AK313593.1 AY714878.1 BC126316.1 BC136356.1 CR627318.1 

    4 DOTS entries:

    DT.107029  DT.95226426  DT.87046621  DT.121155771 

    19 AceView cDNA sequences:

    NM_020547 BX279985 BE503494 AY714878 AI339400 CR627318 BQ712311 AF172932 
    AW082199 BE409048 BF970811 BE410788 BM008020 AW293907 AJ572328 AA459833 
    BF434713 N87881 AA460023 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AMHR2    About this scheme

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


    ECgene alternative splicing isoforms for AMHR2

    Expression
    for AMHR2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AMHR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAACATAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AMHR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FollicleGranulosa CellsOvary
    Reproductive SystemMesonephrosMesenchyme Cells Surrounding Mullerian DuctMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Ventral/hypothalamic-like neurons (Generation of midbra...)
    Posterior foregut-like cells (A scalable, suspensi...)

    See AMHR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMHR2

    SOURCE GeneReport for Unigene cluster: Hs.659889
        SABiosciences Expression via Pathway-Focused PCR Arrays including AMHR2: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for AMHR2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for AMHR2 gene from 1/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia AMHR26
    		 --
    		 42(a)
    		 1 ↔ 1
    		 2(73448909-73486677)


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

    Paralogs
    for AMHR2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AMHR2 gene
    TGFBR22  ACVR1C2  ACVR2A2  ACVR2B2  ACVR1B2  TGFBR12  BMPR1A2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    1 SIMAP similar gene for AMHR2 using alignment to 2 protein entries:     AMHR2_HUMAN (see all proteins):
    BMPR2

    AMHR2 for paralogs           About GeneDecksing



    Genomic Variants
    for AMHR2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/194 NCBI SNPs in AMHR2 are shown (see all 194)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1158610801,2
    		C,F,--50856106(+) AGAGCC/TGGCCG 3 -- us2k11Minor allele frequency- T:0.02WA 118
    rs79703681,2
    		C,--50856356(+) tgtagT/Gcccag 3 -- us2k12Minor allele frequency- G:0.25NA 4
    rs74848721,2
    		C--50856498(+) aaaaaA/Gatcga 3 -- us2k1 trp30--------
    rs1127282531,2
    		C,--50856502(+) AGATCA/GACCCC 3 -- us2k10--------
    rs347152861,2
    		C--50857459(+) GTCTC-/AAAAAA 3 -- us2k11Minor allele frequency- A:0.50NA 2
    rs122281171,2
    		C,H,--50857578(+) ACAAGG/TTAACC 3 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs1133419451,2
    		F--50858208(+) GGGGCG/ACTTGA 3 -- int13Minor allele frequency- A:0.50CSA 8
    rs349325241,2
    		--50861003(+) TGCCAT/CCACGC 3 -- int11Minor allele frequency- C:0.00CSA 1
    rs799337471,2
    		F,--50861327(+) GAAATG/TGATCA 3 -- int11Minor allele frequency- T:0.03EA 120
    rs733132031,2
    		C,--50861715(+) TAAGGC/TGTGCC 3 -- int12Minor allele frequency- T:0.07WA 120

    HapMap Linkage Disequilibrium report for AMHR2 (53817639 - 53825318 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AMHR2: --
    Human Gene Mutation Database (HGMD): AMHR2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for AMHR2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AMHR2 for disorders           About GeneDecksing

    OMIM gene information: 600956   
    OMIM disorders: 261550  
    UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
  • Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]. PMDS2 is a
    • form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males

    20/22 diseases for AMHR2 (see all 22):    About MalaCards
    persistent mullerian duct syndrome, type ii    persistent mullerian duct syndrome    mayer-rokitansky-kuster-hauser syndrome    rokitansky-kuster-hauser syndrome
    sex cord-gonadal stromal tumor    mixed gonadal dysgenesis    gonadal dysgenesis    multiple endocrine neoplasia
    premature ovarian failure    polycystic ovary syndrome    pseudohermaphroditism    epithelial ovarian cancer
    ovarian cancer    cervical cancer    cervicitis    prostate cancer
    breast cancer    endometrial cancer    infertility    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for AMHR2:
    Pseudohermaphroditism     Sex cord-gonadal stromal tumor     Mixed gonadal dysgenesis

    6 Novoseek disease relationships for AMHR2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital absence 54 1 11223848 (1)
    ovarian cancer 39.6 1 17088539 (1)
    cervical cancer 15.6 2 14671316 (2)
    prostate cancer 10.7 1 11773638 (1)
    breast cancer 7.23 1 10874041 (1)
    tumors 0 3 8889695 (1), 14656474 (1), 15728372 (1)

    Genatlas disease: AMHR2
    persistent Mullerian duct syndrome

    Genetic Association Database (GAD): AMHR2
    Human Genome Epidemiology (HuGE) Navigator: AMHR2 (10 documents)

    Export disorders for AMHR2 gene to outside databases

    Publications
    for AMHR2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AMHR2 gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with AMHR2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Insensitivity to anti-Muellerian hormone due to a mutation in the human anti-Muellerian hormone receptor. (PubMed id 7493017)1, 2, 3 Imbeaud S.... Picard J.-Y. (1995)
    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. (PubMed id 10589763)1, 2, 9 Masiakos P.T.... Donahoe P.K. (1999)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Mutational analysis of the mullerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure. (PubMed id 12477536)1, 4 Wang H.Q....Noda Y. (2002)
    5. Autosomal recessive segregation of a truncating mutation of anti- Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro. (PubMed id 11549681)1, 2 Messika-Zeitoun L.... di Clemente N. (2001)
    6. A 27 base-pair deletion of the anti-Muellerian type II receptor gene is the most common cause of the persistent Muellerian duct syndrome. (PubMed id 8872466)1, 2 Imbeaud S.... Picard J.-Y. (1996)
    7. Structure and chromosomal localization of the human anti-Muellerian hormone type II receptor gene. (PubMed id 7488027)1, 2 Visser J.A.... Themmen A.P.N. (1995)
    8. A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity. (PubMed id 17636279)1, 9 Kevenaar M.E....Visser J.A. (2007)
    9. Anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women. (PubMed id 17337470)1, 9 Kevenaar M.E....Visser J.A. (2007)
    10. 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. (PubMed id 18697861)1, 9 Catteau-Jonard S....di Clemente N. (2008)

    External Searches for AMHR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AMHR2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 269 HGNC: 465 AceView: AMHR2 Ensembl:ENSG00000135409 euGenes: HUgn269
    ECgene: AMHR2 Kegg: 269 H-InvDB: AMHR2

    Other Databases showing AMHR2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AMHR2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AMHR2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AMHR2 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone

    Intellectual Property
    for AMHR2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for AMHR2 gene:
    Search GeneIP for patents involving AMHR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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