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Aliases for AMH Gene

Aliases for AMH Gene

  • Anti-Mullerian Hormone 2 3 5
  • Muellerian-Inhibiting Substance 3 4
  • Anti-Muellerian Hormone 3 4
  • MIF 3 4
  • MIS 3 4
  • Mullerian Inhibiting Substance 3
  • Muellerian-Inhibiting Factor 3
  • Mullerian Inhibiting Factor 3

External Ids for AMH Gene

Previous GeneCards Identifiers for AMH Gene

  • GC19P002311
  • GC19P002188
  • GC19P002200

Summaries for AMH Gene

Entrez Gene Summary for AMH Gene

  • 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]

GeneCards Summary for AMH Gene

AMH (Anti-Mullerian Hormone) is a Protein Coding gene. Diseases associated with AMH include Persistent Mullerian Duct Syndrome, Types I And Ii and Persistent Mullerian Duct Syndrome. Among its related pathways are TGF-beta signaling pathway (KEGG) and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity.

UniProtKB/Swiss-Prot for AMH Gene

  • 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.

Additional gene information for AMH Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMH Gene

Genomics for AMH Gene

GeneHancer (GH) Regulatory Elements for AMH Gene

Promoters and enhancers for AMH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J002247 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 688.8 +1.8 1784 7.5 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 SLC30A9 ZNF121 POLR2B GLIS2 AMH MIR4321 PLEKHJ1 THOP1 SF3A2 LOC105372240 JSRP1
GH19J002234 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 31.9 -9.6 -9599 10.6 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SF3A2 PLEKHJ1 DAZAP1 ZNF77 AMH LOC100288123 TCF3 ENSG00000267317 DOT1L GNA11
GH19J002160 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -81.4 -81374 13.7 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 DOT1L DAZAP1 LOC100288123 SF3A2 TCF3 ZNF77 ENSG00000267317 CIRBP GADD45B AP3D1
GH19J002149 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.6 -98.4 -98375 3.7 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 AP3D1 DAZAP1 SF3A2 ZNF77 CIRBP AMH PLEKHJ1 IZUMO4 DOT1L GC19P002134
GH19J002184 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 17.8 -61.9 -61912 5 HDGF FEZF1 HIC1 EED FOS IKZF2 RUNX3 EGR2 SMARCA5 ZNF687 SF3A2 AMH TCF3 MIR1227 LOC100288123 DAZAP1 ZNF77 CIRBP SPPL2B ENSG00000267283
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMH gene promoter:
  • ATF-2
  • c-Jun
  • AP-1
  • GATA-1
  • p53
  • NF-kappaB1
  • Spz1
  • MyoD
  • SREBP-1b

Genomic Locations for AMH Gene

Genomic Locations for AMH Gene
2,960 bases
Plus strand
2,960 bases
Plus strand

Genomic View for AMH Gene

Genes around AMH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMH Gene

Proteins for AMH Gene

  • Protein details for AMH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Muellerian-inhibiting factor
    Protein Accession:
    Secondary Accessions:
    • O75246
    • Q6GTN3

    Protein attributes for AMH Gene

    560 amino acids
    Molecular mass:
    59195 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    • Although it does not compete with EGF for receptor binding sites, MIS can inhibit the autophosphorylation of the EGF receptor in vitro.

neXtProt entry for AMH Gene

Post-translational modifications for AMH Gene

  • Glycosylation at posLast=329329 and Asn64
  • Modification sites at PhosphoSitePlus

Other Protein References for AMH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMH Gene

Domains & Families for AMH Gene

Gene Families for AMH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for AMH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TGF-beta family.
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with AMH: view

Function for AMH Gene

Molecular function for AMH Gene

UniProtKB/Swiss-Prot 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:
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

LifeMap Function Summary for AMH Gene

During embryonic development, AMH as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for AMH Gene

Gene Ontology (GO) - Molecular Function for AMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 14750901
GO:0005160 transforming growth factor beta receptor binding IEA --
GO:0005179 hormone activity TAS 3754790
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with AMH: view
genes like me logo Genes that share phenotypes with AMH: view

Human Phenotype Ontology for AMH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMH Gene

MGI Knock Outs for AMH:
  • Amh Amh<tm1Bhr>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AMH Gene

Localization for AMH Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMH Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMH gene
Compartment Confidence
extracellular 5
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Aggresome (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA --
genes like me logo Genes that share ontologies with AMH: view

Pathways & Interactions for AMH Gene

genes like me logo Genes that share pathways with AMH: view

SIGNOR curated interactions for AMH Gene


Gene Ontology (GO) - Biological Process for AMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001546 preantral ovarian follicle growth IEA --
GO:0001655 urogenital system development IEA,IBA --
GO:0001880 Mullerian duct regression NAS 14750901
GO:0007267 cell-cell signaling TAS 3754790
GO:0007506 gonadal mesoderm development IEA --
genes like me logo Genes that share ontologies with AMH: view

Drugs & Compounds for AMH Gene

(41) Drugs for AMH Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric Acid Approved, Vet_approved Nutra Agonist, Activator 1243
Folic Acid Approved, Vet_approved Nutra 4610
Inositol Approved, Investigational, Withdrawn Nutra 91
leucovorin Approved Nutra 3402,1193
Melatonin Approved, Vet_approved Nutra Antagonist, Full agonist, Agonist Melatonin receptors MT inhibitor, Endogenous hormone; agonist at MT1 and MT2 292

(1) Additional Compounds for AMH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AMH: view

Transcripts for AMH Gene

mRNA/cDNA for AMH Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(337) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMH Gene

Anti-Mullerian hormone:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMH Gene

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

Relevant External Links for AMH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AMH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AMH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMH Gene

This gene is overexpressed in Testis (x8.9) and Pituitary (x5.9).

Protein differential expression in normal tissues from HIPED for AMH Gene

This gene is overexpressed in Testis (43.4) and Fetal testis (20.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMH Gene

Protein tissue co-expression partners for AMH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMH Gene:


SOURCE GeneReport for Unigene cluster for AMH Gene:


Evidence on tissue expression from TISSUES for AMH Gene

  • Nervous system(4.4)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • endocrine
  • reproductive
  • skeletal muscle
  • abdominal wall
  • intestine
  • ovary
  • penis
  • prostate
  • testicle
  • vagina
  • vas deferens
genes like me logo Genes that share expression patterns with AMH: view

No data available for mRNA Expression by UniProt/SwissProt for AMH Gene

Orthologs for AMH Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AMH 34 33
  • 99.02 (n)
(Canis familiaris)
Mammalia AMH 33
  • 81.87 (n)
(Bos Taurus)
Mammalia AMH 34 33
  • 80.22 (n)
(Mus musculus)
Mammalia Amh 16 34 33
  • 75.53 (n)
(Rattus norvegicus)
Mammalia Amh 33
  • 74.7 (n)
(Monodelphis domestica)
Mammalia AMH 34
  • 47 (a)
(Ornithorhynchus anatinus)
Mammalia AMH 34
  • 43 (a)
(Gallus gallus)
Aves AMH 34
  • 34 (a)
(Anolis carolinensis)
Reptilia AMH 34
  • 35 (a)
(Danio rerio)
Actinopterygii amh 34
  • 22 (a)
Species where no ortholog for AMH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AMH Gene

Gene Tree for AMH (if available)
Gene Tree for AMH (if available)
Evolutionary constrained regions (ECRs) for AMH: view image

Paralogs for AMH Gene

No data available for Paralogs for AMH Gene

Variants for AMH Gene

Sequence variations from dbSNP and Humsavar for AMH Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs104894666 pathogenic, Persistent mullerian duct syndrome, type I 2,250,667(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs138571039 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] 2,251,792(+) C/G coding_sequence_variant, missense_variant
rs149082963 uncertain-significance, not specified, Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] 2,249,367(+) T/G coding_sequence_variant, missense_variant
rs185020288 likely-benign, Oromandibular-limb hypogenesis spectrum, not specified 2,249,682(+) G/A coding_sequence_variant, missense_variant
rs267606654 pathogenic, Persistent mullerian duct syndrome, type I 2,251,418(+) G/A/T coding_sequence_variant, missense_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for AMH Gene

Variant ID Type Subtype PubMed ID
dgv6218n54 CNV loss 21841781
nsv578382 CNV loss 21841781
nsv578383 CNV loss 21841781
nsv833706 CNV loss 17160897
nsv833707 CNV loss 17160897

Variation tolerance for AMH Gene

Gene Damage Index Score: 2.09; 38.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMH Gene

Disorders for AMH Gene

MalaCards: The human disease database

(26) MalaCards diseases for AMH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AMH in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:8162013, ECO:0000269 PubMed:8872466}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for AMH Gene

persistent Mullerian duct syndrome

Additional Disease Information for AMH

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AMH: view

Publications for AMH Gene

  1. Anti-mullerian hormone is an endocrine marker of ovarian gonadotropin-responsive follicles and can help to predict superovulatory responses in the cow. (PMID: 18784351) Rico C … Monniaux D (Biology of reproduction 2009) 2 3 22 58
  2. Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells. (PMID: 3754790) Cate RL … Chow EP (Cell 1986) 2 3 4 58
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  4. Association study of AMH and AMHRII polymorphisms with unexplained infertility. (PMID: 19539910) Rigon C … Clementi M (Fertility and sterility 2010) 3 44 58
  5. Association study of four key folliculogenesis genes in polycystic ovary syndrome. (PMID: 20236105) Sproul K … Goodarzi MO (BJOG : an international journal of obstetrics and gynaecology 2010) 3 44 58

Products for AMH Gene

Sources for AMH Gene

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