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    AMH anti-Mullerian hormone [ Homo sapiens (human) ]

    Gene ID: 268, updated on 28-Aug-2016
    Official Symbol
    AMHprovided by HGNC
    Official Full Name
    anti-Mullerian hormoneprovided by HGNC
    Primary source
    HGNC:HGNC:464
    See related
    Ensembl:ENSG00000104899 HPRD:02979; MIM:600957; Vega:OTTHUMG00000180415
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIF; MIS
    Summary
    This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    19p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (2249114..2252073)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2249113..2252072)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing J1 Neighboring gene microRNA 6789 Neighboring gene splicing factor 3a subunit 2 Neighboring gene microRNA 4321 Neighboring gene junctional sarcoplasmic reticulum protein 1 Neighboring gene uncharacterized LOC105372240

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ALK2 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK2 signaling events, organism-specific biosystem
      ALK2 signaling events
    • BMP signaling, organism-specific biosystem (from KEGG)
      BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • BMP signaling, conserved biosystem (from KEGG)
      BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    hormone activity TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Mullerian duct regression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Mullerian duct regression NAS
    Non-traceable Author Statement
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    gonadal mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NF-kappaB transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    preantral ovarian follicle growth IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    sex determination TAS
    Traceable Author Statement
    more info
    PubMed 
    sex differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    urogenital system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    muellerian-inhibiting factor
    Names
    Mullerian inhibiting factor
    Mullerian inhibiting substance
    anti-Muellerian hormone
    muellerian-inhibiting substance

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012190.1 RefSeqGene

      Range
      5166..7960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000479.4NP_000470.2  muellerian-inhibiting factor preproprotein

      See identical proteins and their annotated locations for NP_000470.2

      Status: REVIEWED

      Source sequence(s)
      AC005263, AI791949, BC049194
      Consensus CDS
      CCDS12085.1
      UniProtKB/Swiss-Prot
      P03971
      Related
      ENSP00000221496, OTTHUMP00000264272, ENST00000221496, OTTHUMT00000451276
      Conserved Domains (2) summary
      smart00204
      Location:462560
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam04709
      Location:77398
      AMH_N; Anti-Mullerian hormone, N terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      2249114..2252073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      2248616..2251575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)