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

AMH Gene

protein-coding   GIFtS: 61
GCID: GC19P002251

anti-Mullerian hormone
 Explore 46 diseases affiliated with
AMH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AMH    

Aliases
for AMH 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 Hormone1 2     Muellerian-Inhibiting Substance2 3
MIS1 2 3     Muellerian-Inhibiting Factor2
MIF2 3 5     Mullerian Inhibiting Factor2
Anti-Muellerian Hormone2 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


Summaries
for AMH 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 AMH:
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)

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




Genomic Views
for AMH 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_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences 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 plasmid: AMH promoter sequence
   Search SABiosciences Chromatin IP Primers for AMH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 2,248,666 bp from pter      End:
 2,252,072 bp from pter
Size:
 3,407 bases      Orientation:
 plus strand

Proteins
for AMH 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: MIS_HUMAN, P03971 (See protein sequence)
Recommended Name: Muellerian-inhibiting factor precursor  
Size: 560 amino acids; 59195 Da
Subunit: Homodimer; disulfide-linked
Subcellular location: Secreted
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P03971

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

    REFSEQ proteins: NP_000470.2  
    ENSEMBL proteins: 
     ENSP00000221496   ENSP00000465325  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for AMH (MIS/AMH)
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    OriGene Purified Protein: AMH
    OriGene Protein Over-expression Lysate: AMH
    OriGene Custom Protein Services for AMH 
    GenScript Custom Purified and Recombinant Proteins Services for AMH
    Novus Biologicals AMH Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AMH

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    AMH for ontologies           About GeneDecksing



    AMH Antibody Products: 
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    Uscn Antibodies for AMH
    ThermoFisher Antibody for AMH

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    Uscn ELISAs and CLIAs for AMH

    Protein Domains /
    Families
    for AMH gene

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

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

    Graphical View of Domain Structure for InterPro Entry P03971

    ProtoNet protein and cluster: P03971

    3 Blocks protein families:
    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


    Function
    for AMH 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: 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: Sertoli cells in Seminiferous Tubules It affects the following cells: Mesenchyme Cells Surrounding Mullerian Duct in Mesonephros

    miRNA
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    hsa-mir-451 (MIRT000046)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMH
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    SwitchGear 3'UTR luciferase reporter plasmid: AMH 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMH (see all 7)
    OriGene shRNA RFP: AMH
    OriGene siRNA: AMH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMH

    Gene Editing
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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
    Products:             		GenScript Custom overexpressing Cell Line Services for AMH
    Search LifeMap BioReagents cell lines for AMH

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for AMH

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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


    Animal Models:
         Mouse knock-out Amhtm1Bhr for AMH
         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


    Pathways & Interactions
    for AMH 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 signaling pathway
    		TGF-beta signaling pathway1.00
    2Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling
    		ALK2 signaling events0.31
    3PEDF Induced Signaling
    		Cytokine-cytokine receptor interaction0.26

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for AMH 
        ALK2 signaling events


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


    AMH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for AMH (P039713 ENSP000002214964) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    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



    Drugs & Compounds
    for AMH 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

    AMH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for AMH available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTZO 1MIF binder[99420-15-2]
    8 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about AMH / MIS 

    Transcripts
    for AMH 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 AMH gene: 
    NM_000479.3  

    Unigene Cluster for AMH:

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

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AMH
    SwitchGear 3'UTR luciferase reporter plasmid: AMH 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMH (see all 7)
    OriGene shRNA RFP: AMH
    OriGene siRNA: AMH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMH
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMH (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMH
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: AMH (NM_000479)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMH 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMH

    Additional cDNA sequence: 

    BC033218.1 BC049194.1 

    5 DOTS entries:

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

    24/337 AceView cDNA sequences (see all 337):

    BQ437394 BQ898980 BQ215965 BU189483 BQ428045 AA601721 BU181672 CA388887 
    AA283842 CR593881 CA495277 AI702383 CF242804 BQ439472 CA398123 CR593621 
    BF528394 CR623891 BM855704 CR591027 BM927190 BI916910 BM916391 BQ049237 

    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

    Expression
    for AMH 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

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

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

    AMH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    Reproductive SystemEarly GonadGonad Somatic CellsOvary, Testis
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    TestisTestis CordPre-Sertoli CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    human Fetal Gonadal Stromal Cell (Primary Cell)Reproductive System
    ES-J1 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Secondary follicles (Primary Cell)Ovary, Reproductive System
    Long-time differentiated EBs (Derivation of embryo...)
    Short-term differentiated embryoid bodies (Derivation of embryo...)

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

    SOURCE GeneReport for Unigene cluster: Hs.112432
        SABiosciences Expression via Pathway-Focused PCR Arrays including AMH: 
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMH
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMH
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMH
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for AMH

    Orthologs
    for AMH 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 AMH gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Amh1 , 5 anti-Mullerian hormone1, 5 75.59(n)1
    73.95(a)1    		   10 (39.72 cM)5
    117051  NM_007445.21  NP_031471.21 
     808052485 
    chicken
    (Gallus gallus)    		 Aves AMH1 anti-Mullerian hormone 55.93(n)
    45.13(a)    		   395887  NM_205030.1  NP_990361.1 
    lizard
    (Anolis carolinensis)    		 Reptilia AMH6
    		 --
    		 36(a)
    		 1 ↔ 1
    		 AAWZ02039971(3713-6707)
    zebrafish
    (Danio rerio)    		 Actinopterygii amh6
    		 anti-Mullerian hormone
    		 23(a)
    		 1 ↔ 1
    		 22(21067528-21082105)


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

    Paralogs
    for AMH gene

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

    Genomic Variants
    for AMH 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

    10/115 NCBI SNPs in AMH are shown (see all 115)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048946661,2
    		Cpathogenic2250666(+) CCTCCC/TGAGAC 3 R * nc-transcript-variantstg10--------
    rs768973241,2
    		F,--2018357(+) AGGCCG/AGCAGG 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs37610181,2
    		C,F,H,--2019998(-) TGCTCT/CTCCCT 1 -- us2k1 trp316Minor allele frequency- C:0.06EA NS NA 3596
    rs1132056561,2
    		F--2020409(+) CGGCTC/TACTTA 1 -- ut512Minor allele frequency- T:0.50CSA 4
    rs617365711,2
    		C,F--2020576(+) GACTTG/AGACTG 2 /L syn12Minor allele frequency- A:0.00NS NA 4222
    rs739199251,2
    		C,--2021002(+) GGGTCC/TGTGGC 1 -- int12Minor allele frequency- T:0.09WA 120
    rs723444251,2
    		C,--2021116(+) GAAGA-/CGACGCAG
    GGCTCGGGGC    CAGTG     		1 -- int10--------
    rs72586571,2
    		--2021306(+) CCCTGA/GCTGCA 1 -- int10--------
    rs776712431,2
    		F,--2021352(+) TTGAGG/ATCCCC 1 -- int11Minor allele frequency- A:0.07EA 120
    rs562039151,2
    		C,F,--2247124(+) TCCCCC/TGGGCC 2 -- int1 us2k13Minor allele frequency- T:0.50NA WA 6

    HapMap Linkage Disequilibrium report for AMH (2248666 - 2252072 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AMH
         2 CNVs: 5068 5067
    Human Gene Mutation Database (HGMD): AMH

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    Disorders / Diseases
    for AMH 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
    AMH for disorders           About GeneDecksing

    OMIM gene information: 600957   
    OMIM disorders: 261550  
    UniProtKB/Swiss-Prot: MIS_HUMAN, P03971
  • Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]. PMDS1 is a
    • form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males

    20/46 diseases for AMH (see all 46):    About MalaCards
    persistent mullerian duct syndrome    mayer-rokitansky-kuster-hauser syndrome    rokitansky-kuster-hauser syndrome    persistent mullerian duct syndrome, type i
    mccune albright syndrome    polycystic ovary syndrome    gonadal dysgenesis    pseudohermaphroditism
    intermediate coronary syndrome    freemartinism    premature ovarian failure    cerebrovascular accident
    ovarian hyperstimulation syndrome    systemic lupus erythematosus    cryptorchidism    lupus erythematosus
    anovulation    klinefelter's syndrome    epithelial ovarian cancer    azoospermia

    19 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     Amenorrhea     Intermediate coronary syndrome     Hyperandrogenism
    Azoospermia     Anovulation     Freemartinism     Ovarian hyperstimulation syndrome
    Chronic salpingo-oophoritis     Gonadal dysgenesis     Hypogonadism

    10/13 Novoseek 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

    Publications
    for AMH 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 AMH gene, integrated from 9 sources (see all 240):
    (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. (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. (2009)
    3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (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. Molecular genetics of the persistent Mullerian duct syndrome: a study of 19 families. (PubMed id 8162013)1, 2 Imbeaud S....Picard J.-Y. (1994)
    6. Variants of the anti-Mullerian hormone gene in a compound heterozygote with the persistent Mullerian duct syndrome and his family. (PubMed id 1483695)1, 2 Carre-Eusebe D....Picard J.-Y. (1992)
    7. DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome. (PubMed id 15550498)1, 9 Oppelt P....Strick R. (2005)
    8. Anti-Mullerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment. (PubMed id 14742691)1, 9 Weenen C....Themmen A.P. (2004)
    9. Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure. (PubMed id 18191888)1, 9 Massin N....Touraine P. (2008)
    10. Anti-mullerian hormone protein expression is reduced during the initial stages of follicle development in human polycystic ovaries. (PubMed id 16030171)1, 9 Stubbs S.A....Franks S. (2005)

    External Searches for AMH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    Genome Databases showing AMH gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 268 HGNC: 464 AceView: AMHandSF3A2 Ensembl:ENSG00000104899 euGenes: HUgn268
    ECgene: AMH Kegg: 268 H-InvDB: AMH

    Other Databases showing AMH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AMH 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 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

    Intellectual Property
    for AMH gene

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

    GeneCards and IP:
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