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AMHR2 Gene

protein-coding   GIFtS: 66
GCID: GC12P053823

Anti-Mullerian Hormone Receptor, Type II

  See AMHR2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Anti-Mullerian Hormone Receptor, Type II1 2     MRII2 3
AMHR2 3 5     AMH Type II Receptor2 3
Muellerian Inhibiting Substance Type II Receptor1 2     MIS Type II Receptor2 3
Anti-Muellerian Hormone Type II Receptor2 3     EC 2.7.11.303 8
MISR22 3     Anti-Muellerian Hormone Type-2 Receptor2
MISRII2 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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include transforming growth factor beta receptor activity, type II and receptor activity. An important paralog of this gene is ACVR1C.

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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   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 plasmidAMHR2 promoter sequence
   Search Chromatin IP Primers for AMHR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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

Explore proteomics data for AMHR2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn66, Asn119
  • 3 DME Specific Peptides for AMHR2 (Q16671)
     DFCNANYSHLPP  PPPFQLAYEAELG  GLRELLEDCWDADPEARLTAECVQQRL 


    See AMHR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000257863   ENSP00000446661   ENSP00000369117   ENSP00000455338  

    AMHR2 Human Recombinant Protein Products:

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    Novus Biologicals AMHR2 Protein
    Novus Biologicals AMHR2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: anti-Mullerian hormone receptor, type II
    Type II receptor serine/threonine kinases
    Type II subfamily

    4 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR000472 Activin_rcpt
     IPR000719 Prot_kinase_dom
     IPR015771 Anti-muellerian_hrmn_rcpt_II

    Graphical View of Domain Structure for InterPro Entry Q16671

    ProtoNet protein and cluster: Q16671

    1 Blocks protein domain: 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


    Find genes that share domains with AMHR2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004675transmembrane receptor protein serine/threonine kinase activity ----
    GO:0004713protein tyrosine kinase activity ----
    GO:0004872receptor activity IMP7493017
    GO:0005024transforming growth factor beta-activated receptor activity ----
         
    Find genes that share ontologies with AMHR2           About GenesLikeMe


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

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

    Find genes that share phenotypes with AMHR2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Amhr2tm1Bhr for AMHR2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMHR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AMHR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AMHR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AMHR2

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    miRTarBase miRNAs that target AMHR2:
    hsa-mir-335-5p (MIRT017356)

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    Sino Biological Human cDNA Clone for AMHR2
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    Addgene plasmids for AMHR2 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AMHR2_HUMAN, Q16671: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with AMHR2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AMHR2 About    
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    2TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    3TGF-beta signaling pathway (KEGG)
    TGF-beta signaling pathway
    4ALK2 signaling events
    ALK2 signaling events


    Find genes that share SuperPaths with AMHR2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AMHR2: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AMHR2

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

    Selected 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): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001880Mullerian duct regression NAS14750901
    GO:0006468protein phosphorylation ----
    GO:0007165signal transduction IMP7493017
    GO:0007179transforming growth factor beta receptor signaling pathway IEA--
    GO:0007548sex differentiation TAS12834017

    Find genes that share ontologies with AMHR2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    Find genes that share compounds with AMHR2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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      QuantiFast Probe-based Assays in human, mouse, rat AMHR2

    Additional mRNA 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:

    BX279985 NM_020547 BF970811 AW082199 AW293907 BE409048 BE503494 AI339400 
    BQ712311 CR627318 AY714878 BE410788 AJ572328 AF172932 BM008020 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AMHR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAACATAAA
    AMHR2 Expression
    About this image


    AMHR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
     
     Neurons
             Ventral/hypothalamic-like neurons
     
     NULL (Uncategorized)
             Mesoderm-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    AMHR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMHR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659889
        Pathway & Disease-focused RT2 Profiler 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:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMHR2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for AMHR2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amhr21 , 5 anti-Mullerian hormone type 2 receptor1, 5 82.26(n)1
    79.39(a)1
      15 (57.58 cM)5
    1105421  NM_144547.21  NP_653130.21 
     1024453675 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    22(a)
    many ↔ many
    7(27624760-27649097)
    lizard
    (Anolis carolinensis)
    Reptilia AMHR26
    anti-Mullerian hormone receptor, type II
    43(a)
    1 ↔ 1
    2(73448897-73486848)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004984181 bone morphogenetic protein receptor type-2-like 48.94(n)
    40.47(a)
      100498418  XM_002936629.2  XP_002936675.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-101k6.56
    si:dkey-101k6.5
    22(a)
    many ↔ many
    9(39613770-39639338) ENSDARG00000055136
    fruit fly
    (Drosophila melanogaster)
    Insecta wit6
    wishful thinking
    18(a)
    1 → many
    3L(4064152-4071717)


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

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

    Find genes that share paralogs with AMHR2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AMHR2 (see all 280)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0155304
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155302 V A mis40--------
    VAR_0155294
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155292 D G mis40--------
    VAR_0155324
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155322 R C mis40--------
    VAR_0155264
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155262 G V mis40--------
    VAR_0155314
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155312 D H mis40--------
    VAR_0155284
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155282 R Q mis40--------
    VAR_0155254
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155252 R C mis40--------
    VAR_0155274
    Persistent Muellerian duct syndrome 2 (PMDS2)4--see VAR_0155272 H Q mis40--------
    rs74848721,2
    C--50856498(+) aaaaaA/Gatcga 3 -- us2k1 trp30--------
    rs1500045251,2
    --53649873(+) TTCATC/TGTTGA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for AMHR2 (53817639 - 53825318 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AMHR2: --
    Human Gene Mutation Database (HGMD): AMHR2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AMHR2
    DNA2.0 Custom Variant and Variant Library Synthesis for AMHR2

    (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.)
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    OMIM gene information: 600956   
    OMIM disorders: 261550  
    UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 5 diseases for AMHR2:    
    About MalaCards
    persistent mullerian duct syndrome, type ii    persistent mullerian duct syndrome    persistent mullerian duct syndrome, type i    mixed gonadal dysgenesis
    ovarian cancer

    2 diseases from the University of Copenhagen DISEASES database for AMHR2:
    Pseudohermaphroditism     Mixed gonadal dysgenesis

    Find genes that share disorders with AMHR2           About GenesLikeMe

    6 Novoseek inferred 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

    (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)
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    PubMed articles for AMHR2 gene, integrated from 10 sources (see all 74):
    (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. (Nat. Genet. 1995)
    2. Anti-MA1llerian hormone and anti-MA1llerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women. (PubMed id 17337470)1, 4, 9 Kevenaar M.E....Visser J.A. (Hum. Reprod. 2007)
    3. 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. (Clin. Cancer Res. 1999)
    4. Association study of four key folliculogenesis genes in polycystic ovary syndrome. (PubMed id 20236105)1, 4 Sproul K....Goodarzi M.O. (BJOG 2010)
    5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    6. Association study of AMH and AMHRII polymorphisms with unexplained infertility. (PubMed id 19539910)1, 4 Rigon C....Clementi M. (Fertil. Steril. 2010)
    7. A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients. (PubMed id 18230658)1, 4 Kevenaar M.E....Visser J.A. (J. Clin. Endocrinol. Metab. 2008)
    8. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)
    9. 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. (Genome Res. 2004)
    10. Mutational analysis of the mA1llerian-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. (Fertil. Steril. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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