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 ... See more...

Aliases for AMH Gene

Aliases for AMH Gene

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

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 ALK2 signaling events and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity.

UniProtKB/Swiss-Prot Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMH Gene

Genomics for AMH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J002250 Promoter 0.7 Ensembl 600.7 +1.4 1392 0.2 HNRNPL ZNF600 POLR2A KLF8 HIC1 SUPT5H RARA ZBTB33 ZFP37 NR2F6 AMH MIR4321 piR-35674-239 OAZ1
GH19J002249 Promoter 0.7 EPDnew 600.7 0.0 -4 0.1 POLR2A ZBED1 BCL11A HIC1 SUPT5H BCL11B GLIS1 GLIS2 PML AMH MIR4321 NONHSAG024424.2 PLEKHJ1
GH19J002247 Enhancer 0.6 ENCODE 600.7 -1.8 -1838 0.7 ZIC2 PATZ1 ZNF600 SP2 GABPA ZFHX2 KLF8 HIC1 ZNF223 GLIS1 AMH PLEKHJ1 NONHSAG024424.2 SF3A2
GH19J002248 Enhancer 0.5 Ensembl 638.7 -0.5 -508 0.4 ZNF341 SCRT2 POLR2A ZKSCAN1 SCRT1 ZFHX2 ZFP69B FEZF1 EGR2 AMH MIR4321 PLEKHJ1 NONHSAG024424.2 SF3A2
GH19J002234 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 31.9 -9.9 -9895 10.8 ZNF221 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 SOX13 IKZF1 SF3A2 PLEKHJ1 ZNF77 DAZAP1 AMH LOC100288123 TCF3 DOT1L GNA11 ENSG00000267317
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMH

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

Genomic Locations for AMH Gene

Genomic Locations for AMH Gene
chr19:2,249,309-2,252,073
(GRCh38/hg38)
Size:
2,765 bases
Orientation:
Plus strand
chr19:2,249,113-2,252,072
(GRCh37/hg19)
Size:
2,960 bases
Orientation:
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:
    P03971-MIS_HUMAN
    Recommended name:
    Muellerian-inhibiting factor
    Protein Accession:
    P03971
    Secondary Accessions:
    • O75246
    • Q6GTN3

    Protein attributes for AMH Gene

    Size:
    560 amino acids
    Molecular mass:
    59195 Da
    Quaternary structure:
    • 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.

neXtProt entry for AMH Gene

Post-translational modifications for AMH Gene

  • Glycosylation at Asn64 and Asn329
  • 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

Protein Domains for AMH Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
  • Anti-Mullerian hormone, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for AMH Gene

GenScript: Design optimal peptide antigens:
  • Muellerian-inhibiting substance (MIS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P03971

UniProtKB/Swiss-Prot:

MIS_HUMAN :
  • Belongs to the TGF-beta family.
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMH

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

Secreted.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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 21873635
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

Activates:

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 IBA 21873635
GO:0001880 Mullerian duct regression IBA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma 3266
Goserelin Approved Pharma Agonist, Full agonist 286
Inositol Approved, Investigational, Withdrawn Pharma 110
leucovorin Approved Pharma 3692,1548
Sodium citrate Approved, Investigational Pharma 1509

(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 :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMH

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

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

Relevant External Links for AMH Gene

GeneLoc Exon Structure for
AMH

Expression for AMH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMH

SOURCE GeneReport for Unigene cluster for AMH Gene:

Hs.112432

Evidence on tissue expression from TISSUES for AMH Gene

  • Nervous system(4.5)
  • Blood(3)
  • Adrenal gland(2.6)
  • Kidney(2.5)
  • Liver(2.5)
  • Thyroid gland(2.3)
  • Skin(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • reproductive
  • skeletal muscle
Regions:
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia AMH 30 31
  • 99.02 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMH 30
  • 81.87 (n)
Cow
(Bos Taurus)
Mammalia AMH 30 31
  • 80.22 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Amh 30 17 31
  • 75.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Amh 30
  • 74.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia AMH 31
  • 47 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AMH 31
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AMH 31
  • 34 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AMH 31
  • 35 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii amh 31
  • 22 (a)
OneToOne
Species where no ortholog for AMH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for AMH (if available)
TreeFam:
Gene Tree for AMH (if available)
Aminode:
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMH Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
719225 Benign: not provided 2,249,700(+) G/A MISSENSE_VARIANT
723726 Likely Benign: not provided 2,251,582(+) G/T SYNONYMOUS_VARIANT
726613 Likely Benign: not provided 2,251,288(+) C/T SYNONYMOUS_VARIANT
727144 Likely Benign: not provided 2,249,461(+) G/A SYNONYMOUS_VARIANT
732333 Likely Benign: not provided 2,250,477(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AMH Gene

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)
AMH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMH

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

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

Disorder Aliases PubMed IDs
persistent mullerian duct syndrome, types i and ii
  • pmds
persistent mullerian duct syndrome
  • pmds
mixed gonadal dysgenesis
  • gonadal dysgenesis mixed
galactosemia i
  • galk deficiency
chronic salpingo-oophoritis
  • chronic salpingitis and oophoritis
- elite association - COSMIC cancer census association via MalaCards
Search AMH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MIS_HUMAN
  • 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 Müllerian duct syndrome

Additional Disease Information for AMH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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
  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 41
  4. 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 41
  5. Association study of AMH and AMHRII polymorphisms with unexplained infertility. (PMID: 19539910) Rigon C … Clementi M (Fertility and sterility 2010) 3 41

Products for AMH Gene

  • Signalway ELISA kits for AMH
  • Signalway Proteins for AMH

Sources for AMH Gene