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

    Gene ID: 268, updated on 11-Apr-2024

    Summary

    Official Symbol
    AMHprovided by HGNC
    Official Full Name
    anti-Mullerian hormoneprovided by HGNC
    Primary source
    HGNC:HGNC:464
    See related
    Ensembl:ENSG00000104899 MIM:600957; AllianceGenome:HGNC:464
    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]
    Expression
    Biased expression in testis (RPKM 2.0), brain (RPKM 1.2) and 10 other tissues See more
    Orthologs
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    Genomic context

    See AMH in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2249323..2252073)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2222966..2225716)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2249322..2252072)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing J1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2236352-2236960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9775 Neighboring gene microRNA 6789 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2239731-2240468 Neighboring gene splicing factor 3a subunit 2 Neighboring gene Sharpr-MPRA regulatory region 2271 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2242682-2242879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2243337-2243914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2245579-2246079 Neighboring gene AMH 5' regulatory region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9776 Neighboring gene microRNA 4321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13669 Neighboring gene junctional sarcoplasmic reticulum protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13671 Neighboring gene uncharacterized LOC105372240 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2269184-2269798

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hormone activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type II transforming growth factor beta receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Leydig cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Mullerian duct regression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Mullerian duct regression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Mullerian duct regression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Mullerian duct regression NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in anti-Mullerian hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in gonadal mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of ovarian follicle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ovarian follicle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in preantral ovarian follicle growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sex determination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sex differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in urogenital system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    muellerian-inhibiting factor
    Names
    Mullerian inhibiting factor
    Mullerian inhibiting substance
    anti-Muellerian hormone
    muellerian-inhibiting substance

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012190.2 RefSeqGene

      Range
      5002..7752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000479.5NP_000470.3  muellerian-inhibiting factor preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC005263
      Consensus CDS
      CCDS12085.1
      UniProtKB/Swiss-Prot
      O75246, P03971, Q6GTN3
      Related
      ENSP00000221496.2, ENST00000221496.5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      2249323..2252073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      2222966..2225716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)