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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
  • 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

  • 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]

GeneCards Summary for AMH Gene

AMH (Anti-Mullerian Hormone) is a Protein Coding gene. Diseases associated with AMH include persistent mullerian duct syndrome, type ii and persistent mullerian duct syndrome. Among its related pathways are cAMP signaling pathway and PEDF Induced Signaling. GO annotations related to this gene include 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.

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

Genomics for AMH Gene

Regulatory Elements for AMH Gene

Enhancers for AMH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AMH on UCSC Golden Path with GeneCards custom track

Genomic Location for AMH Gene

Chromosome:
19
Start:
2,249,114 bp from pter
End:
2,252,073 bp from pter
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

Proteomics data for AMH Gene at MOPED

Post-translational modifications for AMH Gene

  • Glycosylation at Asn 64 and Asn 329
  • Modification sites at PhosphoSitePlus

Other Protein References for AMH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for AMH Gene

Domains & Families for AMH Gene

Gene Families for AMH Gene

Suggested Antigen Peptide Sequences for AMH Gene

GenScript: Design optimal peptide antigens:

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

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
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.

LifeMap Function Summary for AMH Gene

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

Gene Ontology (GO) - Molecular Function for AMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005160 transforming growth factor beta receptor binding IEA --
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:

Animal Model Products

miRNA for AMH Gene

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
Jensen Localization Image for AMH Gene COMPARTMENTS Subcellular localization image for AMH gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
nucleus 2
cytoskeleton 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for AMH Gene

Pathways & Interactions for AMH Gene

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

Pathways by source for AMH Gene

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 IEA,IBA --
GO:0001880 Mullerian duct regression NAS 14750901
GO:0007548 sex differentiation TAS 12834017
GO:0008406 gonad development IEA --
genes like me logo Genes that share ontologies with AMH: view

Drugs & Compounds for AMH Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Folic Acid Approved Nutra 4079
Melatonin Approved Nutra Antagonist Melatonin receptors MT inhibitor 239
Anesthetics Pharma 8255
Anticoagulants Pharma 2337
Calcium, Dietary Pharma 5290
genes like me logo Genes that share compounds with AMH: view

Transcripts for AMH Gene

mRNA/cDNA for AMH Gene

Unigene Clusters for AMH Gene

Anti-Mullerian hormone:
Representative Sequences:

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
ECgene alternative splicing isoforms for
AMH

Expression for AMH Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for AMH Gene



SOURCE GeneReport for Unigene cluster for AMH Gene Hs.112432

genes like me logo Genes that share expression patterns with AMH: view

Protein tissue co-expression partners for AMH Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia AMH 35
  • 80.22 (n)
  • 77.52 (a)
AMH 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMH 35
  • 81.87 (n)
  • 75.47 (a)
mouse
(Mus musculus)
Mammalia Amh 35
  • 75.53 (n)
  • 73.95 (a)
Amh 16
Amh 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMH 35
  • 99.02 (n)
  • 98.82 (a)
AMH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amh 35
  • 74.7 (n)
  • 73.91 (a)
oppossum
(Monodelphis domestica)
Mammalia AMH 36
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMH 36
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMH 36
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMH 36
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii amh 36
  • 22 (a)
OneToOne
Species with no ortholog for AMH:
  • 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

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

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 Sequence Context AA Info Type
VAR_007483 Persistent Muellerian duct syndrome 1 (PMDS1)
VAR_007484 -
VAR_007485 Persistent Muellerian duct syndrome 1 (PMDS1)
VAR_007486 Persistent Muellerian duct syndrome 1 (PMDS1)
VAR_007487 Persistent Muellerian duct syndrome 1 (PMDS1)

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

Variant ID Type Subtype PubMed ID
nsv910499 CNV Loss 21882294
dgv3614n71 CNV Loss 21882294
dgv3622n71 CNV Loss 21882294
dgv3626n71 CNV Loss 21882294
nsv910623 CNV Loss 21882294
dgv3629n71 CNV Loss 21882294
dgv3630n71 CNV Loss 21882294
nsv833706 CNV Loss 17160897
dgv3631n71 CNV Loss 21882294
nsv833707 CNV Loss 17160897
nsv910636 CNV Loss 21882294
dgv3632n71 CNV Loss 21882294
dgv3633n71 CNV Loss 21882294
dgv3634n71 CNV Loss 21882294
nsv910643 CNV Loss 21882294

Variation tolerance for AMH Gene

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

Relevant External Links for AMH Gene

HapMap Linkage Disequilibrium report
AMH
Human Gene Mutation Database (HGMD)
AMH

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

Disorders for AMH Gene

MalaCards: The human disease database

(28) MalaCards diseases for AMH Gene - From: OMIM, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
persistent mullerian duct syndrome, type ii
  • persistent mullerian duct syndrome, type i
persistent mullerian duct syndrome
  • female genital ducts in otherwise normal male
reproductive system disease
  • genital system disease
cryptorchidism
  • cryptorchism
female reproductive system disease
  • genital diseases, female
- 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 Mullerian duct syndrome

Relevant External Links for AMH

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

Publications for AMH Gene

  1. Isolation of the bovine and human genes for Mullerian inhibiting substance and expression of the human gene in animal cells. (PMID: 3754790) Cate R.L. … Donahoe P.K. (Cell 1986) 2 3 4 67
  2. 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. (Biol. Reprod. 2009) 2 3 23
  3. Serum MA1llerian Inhibiting Substance/anti-MA1llerian hormone levels in patients with adult granulosa cell tumors directly correlate with aggregate tumor mass as determined by pathology or radiology. (PMID: 19359032) Chang H.L. … MacLaughlin D.T. (Gynecol. Oncol. 2009) 3 23
  4. Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure. (PMID: 18191888) Massin N. … Touraine P. (Mol. Cell. Endocrinol. 2008) 3 23
  5. A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity. (PMID: 17636279) Kevenaar M.E. … Visser J.A. (Hum. Reprod. 2007) 3 23

Products for AMH Gene

Sources for AMH Gene

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