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AMH Gene

protein-coding   GIFtS: 62
GCID: GC19P002251

Anti-Mullerian Hormone

  See 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 Hormone1 2     MIS2 3
MIF2 3 5     Muellerian-Inhibiting Factor2
Anti-Muellerian Hormone2 3     Mullerian Inhibiting Factor2
Muellerian-Inhibiting Substance2 3     Mullerian Inhibiting Substance2

External Ids:    HGNC: 4641   Entrez Gene: 2682   Ensembl: ENSG000001048997   OMIM: 6009575   UniProtKB: P039713   

Export aliases for AMH gene to outside databases

Previous GC identifers: GC19P002311 GC19P002188 GC19P002200


(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 AMH Gene:
Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual
differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise
differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in
persistent Mullerian duct syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for AMH Gene:
AMH (anti-Mullerian hormone) is a protein-coding gene. Diseases associated with AMH include intermediate coronary syndrome, and persistent mullerian duct syndrome. GO annotations related to this gene include hormone activity and receptor binding.

UniProtKB/Swiss-Prot: MIS_HUMAN, P03971
Function: This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian
duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin




(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:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMH gene promoter:
         Spz1   p53   AP-1   ATF-2   MyoD   SREBP-1b   GATA-1   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMH promoter sequence
   Search Chromatin IP Primers for AMH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMH


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P002251:  view genomic region     (about GC identifiers)

Start:
2,249,113 bp from pter      End:
2,252,072 bp from pter
Size:
2,960 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MIS_HUMAN, P03971 (See protein sequence)
Recommended Name: Muellerian-inhibiting factor precursor  
Size: 560 amino acids; 59195 Da
Subunit: Homodimer; disulfide-linked
Miscellaneous: Although it does not compete with EGF for receptor binding sites, MIS can inhibit the
autophosphorylation of the EGF receptor in vitro
Secondary accessions: O75246 Q6GTN3

Explore the universe of human proteins at neXtProt for AMH: NX_P03971

Explore proteomics data for AMH at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn64, Asn329
  • Modification sites at PhosphoSitePlus

  • See AMH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000470.2  
    ENSEMBL proteins: 
     ENSP00000465325   ENSP00000221496  

    AMH Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for AMH

    AMH Antibody Products:

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    AMH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for AMH
    Cloud-Clone Corp. CLIAs for AMH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    4 InterPro protein domains:
     IPR021203 Muellerian-inhibiting_factor
     IPR006799 AMH_N
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry P03971

    ProtoNet protein and cluster: P03971

    3 Blocks protein domains:
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature
    IPB006799 Anti-Mullerian hormone


    UniProtKB/Swiss-Prot: MIS_HUMAN, P03971
    Similarity: Belongs to the TGF-beta family


    AMH for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MIS_HUMAN, P03971
    Function: This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian
    duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin

         Genatlas biochemistry entry for AMH:
    anti-Mullerian hormone (TGFB superfamily),140kDa,expressed in the Sertoli cells of the fetal and neonatal
    testis,preventing the development of the uterus and fallopian tubes in male

         Summary: 
    During embryonic development, AMH as signaling molecule is secreted from the following cells:
                
    Testis: Sertoli cells (Seminiferous Tubules)

    It affects the following cells:
    Intermediate Mesoderm: Mesenchyme Cells Surrounding Mullerian Duct (Mesonephros)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI14750901
    GO:0005160transforming growth factor beta receptor binding IEA--
    GO:0005179hormone activity TAS3754790
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--
         
    AMH for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Amh):
     endocrine/exocrine gland  homeostasis/metabolism  no phenotypic analysis  reproductive system  tumorigenesis 

    AMH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Amhtm1Bhr for AMH

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target AMH:
    hsa-mir-769-5p (MIRT039145), hsa-mir-451a (MIRT000046), hsa-mir-320a (MIRT044670), hsa-mir-744-5p (MIRT037678)

    Block miRNA regulation of human, mouse, rat AMH using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate AMH
    SwitchGear 3'UTR luciferase reporter plasmidAMH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for AMH
    Predesigned siRNA for gene silencing in human, mouse, rat AMH

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: AMH (NM_000479)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMH

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMH


    (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
    MIS_HUMAN, P03971: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum2
    nucleus2
    cytoskeleton1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14750901
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--

    AMH for ontologies           About GeneDecksing


    (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 AMH About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AMH
        MIF Regulation of Innate Immune Cells
    MIF Mediated Glucocorticoid Regulation
    MIF Action Through Endocytic Pathway

    1 BioSystems Pathway for AMH
        ALK2 signaling events


    3 Kegg Pathways  (Kegg details for AMH):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway
    Hippo signaling pathway


    AMH for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AMH: 
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AMH

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

    Selected Interacting proteins for AMH (P039713 ENSP000002214964) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCSK5Q928243, ENSP000003659434I2D: score=1 STRING: ENSP00000365943
    AMHR2Q166713, ENSP000002578634I2D: score=1 STRING: ENSP00000257863
    EGFRP005333, ENSP000002754934I2D: score=1 STRING: ENSP00000275493
    ACVR1ENSP000002636404STRING: ENSP00000263640
    SMAD9ENSP000003691544STRING: ENSP00000369154
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development ----
    GO:0001546preantral ovarian follicle growth IEA--
    GO:0001655urogenital system development IEA--
    GO:0001880Mullerian duct regression NAS14750901
    GO:0007267cell-cell signaling TAS3754790

    AMH for ontologies           About GeneDecksing



    (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 

    Compounds for AMH available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AS 101 Immunomodulator; inhibits IL-10 synthesis and potentiates IL-1alpha, IL-2 and TNF-alpha release [106566-58-9]
    PirfenidoneAntifibrotic agent; regulates cytokine levels in vivo[53179-13-8]
    GIT 27Immunomodulator; reduces production of pro-inflammatory cytokines[6501-72-0]
    4-IPPInhibitor of macrophage migration inhibitory factor (MIF); suicide substrate[41270-96-6]
    ThalidomideTNF-alpha synthesis inhibitor[50-35-1]

    8 Novoseek inferred chemical compound relationships for AMH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    testosterone 46 39 19276236 (4), 10022428 (4), 14656476 (3), 8810722 (2) (see all 12)
    4-hydroxytamoxifen 42.5 2 17671693 (1), 15297425 (1)
    mifepristone 24.4 8 17671693 (3), 15297425 (2)
    progesterone 15.5 2 12571169 (1), 18830622 (1)
    estradiol 15 3 19934359 (2), 12571169 (1)
    estrogen 8.64 2 18830622 (1), 8512090 (1)
    zinc 7.25 2 11518812 (1), 10741423 (1)
    tamoxifen 3.96 3 8512090 (1)



    AMH for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AMH gene: 
    NM_000479.3  

    Unigene Cluster for AMH:

    Anti-Mullerian hormone
    Hs.112432  [show with all ESTs]
    Unigene Representative Sequence: NM_000479
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592877 ENST00000221496(uc002lvh.2) ENST00000609455 ENST00000589313

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AMH
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    GenScript: all cDNA clones in your preferred vector: AMH (NM_000479)
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat AMH

    Additional mRNA sequence: 

    BC033218.1 BC049194.1 

    5 DOTS entries:

    DT.40307359  DT.95266731  DT.121414485  DT.97837972  DT.403963 

    Selected AceView cDNA sequences (see all 337):

    BM798808 BM927190 BM846230 BI916910 BQ720593 BQ928455 AW732696 BU172573 
    CF242804 BG912023 CR593621 CR622079 AA601721 CR593881 BE900620 CR596440 
    BU150306 BI253981 AA283842 BI909634 AI702367 CR608171 CR591148 CR600654 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AMH    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5
    SP1:                                                
    SP2:        -     -                                 
    SP3:                                                


    ECgene alternative splicing isoforms for AMH

    (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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    AMH expression in normal human tissues (normalized intensities)      AMH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCCACCG
    AMH Expression
    About this image


    AMH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Sertoli cells Seminiferous Tubules
             Long-time differentiated EBs
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Gonad Somatic Cells Primitive Gonad
             Secondary follicles
     
     NULL (Uncategorized)
             Short-term differentiated embryoid bodies
     
     Inner Cell Mass (Early Embryonic Tissues)
             ES-J1
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Gonad Somatic Cells Primitive Gonad
             Fetal Gonadal Stromal Cell
    AMH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.112432
        Pathway & Disease-focused RT2 Profiler PCR Arrays including AMH: 
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for AMH
    OriGene qSTAR qPCR primer pairs in human, mouse for AMH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AMH
    QuantiTect SYBR Green Assays in human, mouse, rat AMH
    QuantiFast Probe-based Assays in human, mouse, rat AMH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMH

    (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 chordates.

    Orthologs for AMH gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amh1 , 5 anti-Mullerian hormone1, 5 75.53(n)1
    73.95(a)1
      10 (39.72 cM)5
    117051  NM_007445.21  NP_031471.21 
     808052485 
    chicken
    (Gallus gallus)
    Aves AMH6
    Gallus gallus anti-Mullerian hormone (AMH), mRNA.
    34(a)
    1 ↔ 1
    28(1956623-1960825)
    lizard
    (Anolis carolinensis)
    Reptilia AMH6
    anti-Mullerian hormone
    35(a)
    1 ↔ 1
    AAWZ02039971(21-6707)
    zebrafish
    (Danio rerio)
    Actinopterygii amh6
    anti-Mullerian hormone
    22(a)
    1 ↔ 1
    22(21067528-21082105) ENSDARG00000014357


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 AMH (see all 154)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1490829631,2,,4
    C,FPersistent Muellerian duct syndrome 1 (PMDS1)4 --2176349(+) CCTAGT/GGCTGT 2 /G /V mis11Minor allele frequency- G:0.00NA 2770
    VAR_0074884
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0074882 Y C mis40--------
    VAR_0074904
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0074902 R C mis40--------
    VAR_0310274
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0310272 H Q mis40--------
    VAR_0074854
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0074852 L P mis40--------
    VAR_0074874
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0074872 R W mis40--------
    VAR_0310284
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0310282 C Y mis40--------
    VAR_0074924
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0074922 V A mis40--------
    VAR_0074864
    Persistent Muellerian duct syndrome 1 (PMDS1)4--see VAR_0074862 G V mis40--------
    rs1048946661,2
    Cpathogenic12177649(+) CCTCCC/TGAGAC 2 R * stg10--------

    HapMap Linkage Disequilibrium report for AMH (2249113 - 2252072 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AMH (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3634n71CNV Loss21882294
    dgv3631n71CNV Loss21882294
    dgv3630n71CNV Loss21882294
    dgv3614n71CNV Loss21882294
    dgv3629n71CNV Loss21882294
    nsv910499CNV Loss21882294
    dgv3632n71CNV Loss21882294
    dgv3626n71CNV Loss21882294
    dgv3622n71CNV Loss21882294
    nsv910643CNV Loss21882294

    Human Gene Mutation Database (HGMD): AMH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AMH
    DNA2.0 Custom Variant and Variant Library Synthesis for AMH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600957   
    OMIM disorders: 261550  
    UniProtKB/Swiss-Prot: MIS_HUMAN, P03971
  • Persistent Muellerian duct syndrome 1 (PMDS1) [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

  • Selected diseases for AMH (see all 63):    About MalaCards
    intermediate coronary syndrome    persistent mullerian duct syndrome    salpingo-oophoritis    oophoritis
    persistent mullerian duct syndrome, type i    chronic salpingo-oophoritis    mayer-rokitansky-kuster-hauser syndrome    mccune albright syndrome
    persistent mullerian duct syndrome, type ii    polycystic ovary syndrome    freemartinism    hermaphroditism
    cryptorchidism    pseudohermaphroditism    varicocele    mixed gonadal dysgenesis
    ovarian disease    ovarian hyperstimulation syndrome    anovulation    spermatogenic failure

    14 diseases from the University of Copenhagen DISEASES database for AMH:
    Myocardial infarction     Polycystic ovary syndrome     Infertility     Premature ovarian failure
    Cryptorchidism     Coronary heart disease     Pseudohermaphroditism     Ovarian dysfunction
    Cerebrovascular accident     Intermediate coronary syndrome     Amenorrhea     Hyperandrogenism
    Hermaphroditism     Anovulation

    AMH for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for AMH gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohermaphroditism male 70.6 4 11419169 (1), 8468660 (1), 1593700 (1)
    pseudohermaphroditism female 69.8 1 10022428 (1)
    granulosa cell tumor 63.9 3 11070112 (1), 16159935 (1), 8468660 (1)
    cryptorchidism 53.5 1 8468660 (1)
    oligozoospermia 38.8 1 10374110 (1)
    azoospermia 38.6 1 10374110 (1)
    polycystic ovary syndrome 37 3 17489169 (1), 17299061 (1), 18854405 (1)
    puberty precocious 35.3 2 8810722 (1)
    aplasia 27.6 1 10523039 (1)
    infertility 10.2 1 18510094 (1)

    Genatlas disease: AMH
    persistent Mullerian duct syndrome

    Genetic Association Database (GAD): AMH
    Human Genome Epidemiology (HuGE) Navigator: AMH (22 documents)

    Export disorders for AMH 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 AMH gene, integrated from 10 sources (see all 279):
    (articles sorted by number of sources associating them with AMH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the bovine and human genes for Mullerian inhibiting substance and expression of the human gene in animal cells. (PubMed id 3754790)1, 2, 3 Cate R.L.... Donahoe P.K. (Cell 1986)
    2. Anti-mullerian hormone is an endocrine marker of ovarian gonadotropin-responsive follicles and can help to predict superovulatory responses in the cow. (PubMed id 18784351)1, 3, 9 Rico C....Monniaux D. (Biol. Reprod. 2009)
    3. Association study of AMH and AMHRII polymorphisms with unexplained infertility. (PubMed id 19539910)1, 4 Rigon C....Clementi M. (Fertil. Steril. 2010)
    4. 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)
    5. Association study of four key folliculogenesis genes in polycystic ovary syndrome. (PubMed id 20236105)1, 4 Sproul K....Goodarzi M.O. (BJOG 2010)
    6. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    7. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)
    8. 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)
    9. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 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: 268 HGNC: 464 AceView: AMHandSF3A2 Ensembl:ENSG00000104899 euGenes: HUgn268
    ECgene: AMH Kegg: 268 H-InvDB: AMH

    (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 AMH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AMH 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 AMH gene:
    Search GeneIP for patents involving AMH

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



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