Human Gene AMH (ENST00000221496.5) from GENCODE V44
  Description: Homo sapiens anti-Mullerian hormone (AMH), mRNA. (from RefSeq NM_000479)
RefSeq Summary (NM_000479): 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].
Gencode Transcript: ENST00000221496.5
Gencode Gene: ENSG00000104899.8
Transcript (Including UTRs)
   Position: hg38 chr19:2,249,323-2,252,073 Size: 2,751 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr19:2,249,333-2,251,957 Size: 2,625 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr19:2,249,323-2,252,073)mRNA (may differ from genome)Protein (560 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Muellerian-inhibiting factor; AltName: Full=Anti-Muellerian hormone; Short=AMH; AltName: Full=Muellerian-inhibiting substance; Short=MIS; Flags: Precursor;
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.
SUBUNIT: Homodimer; disulfide-linked.
DISEASE: Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]. PMDS1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
MISCELLANEOUS: Although it does not compete with EGF for receptor binding sites, MIS can inhibit the autophosphorylation of the EGF receptor in vitro.
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Anti-Mullerian hormone entry; URL="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: AMH
Diseases sorted by gene-association score: persistent mullerian duct syndrome, type ii* (1167), persistent mullerian duct syndrome (50), reproductive system disease (19), female reproductive system disease (19), freemartinism (16), chronic salpingo-oophoritis (16), salpingo-oophoritis (15), cryptorchidism (15), inherited bone marrow failure syndromes (13), sex differentiation disease (11), mixed gonadal dysgenesis (10), gonadal dysgenesis (9), galactosemia (9), pseudohermaphroditism (9), ovarian hyperstimulation syndrome (9), ovarian disease (7), mucinous ovarian cystadenoma (7), varicocele (7), premature menopause (7), gonadal disease (5), chromosome 10q26 deletion syndrome (5), premature ovarian failure 1 (4), endometriosis of ovary (4), frasier syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.62 RPKM in Testis
Total median expression: 72.39 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -27.10116-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006799 - AMH_N
IPR021203 - Muellerian-inhibiting_factor
IPR001839 - TGF-b_C
IPR017948 - TGFb_CS

Pfam Domains:
PF04709 - Anti-Mullerian hormone, N terminal region
PF00019 - Transforming growth factor beta like domain

ModBase Predicted Comparative 3D Structure on P03971
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005160 transforming growth factor beta receptor binding
GO:0005179 hormone activity
GO:0008083 growth factor activity

Biological Process:
GO:0001546 preantral ovarian follicle growth
GO:0001655 urogenital system development
GO:0001880 Mullerian duct regression
GO:0007267 cell-cell signaling
GO:0007506 gonadal mesoderm development
GO:0007530 sex determination
GO:0007548 sex differentiation
GO:0007568 aging
GO:0008406 gonad development
GO:0010469 regulation of receptor activity
GO:0010628 positive regulation of gene expression
GO:0014070 response to organic cyclic compound
GO:0030154 cell differentiation
GO:0030509 BMP signaling pathway
GO:0042493 response to drug
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:2000355 negative regulation of ovarian follicle development

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space

-  Descriptions from all associated GenBank mRNAs
  JD024296 - Sequence 5320 from Patent EP1572962.
BC049194 - Homo sapiens anti-Mullerian hormone, mRNA (cDNA clone MGC:54208 IMAGE:5168299), complete cds.
JD034119 - Sequence 15143 from Patent EP1572962.
LF213971 - JP 2014500723-A/21474: Polycomb-Associated Non-Coding RNAs.
MA449548 - JP 2018138019-A/21474: Polycomb-Associated Non-Coding RNAs.
LF208823 - JP 2014500723-A/16326: Polycomb-Associated Non-Coding RNAs.
MA444400 - JP 2018138019-A/16326: Polycomb-Associated Non-Coding RNAs.
AB590863 - Synthetic construct DNA, clone: pFN21AB5970, Homo sapiens AMH gene for anti-Mullerian hormone, without stop codon, in Flexi system.
JD019713 - Sequence 737 from Patent EP1572962.
JD029881 - Sequence 10905 from Patent EP1572962.
BC033218 - Homo sapiens anti-Mullerian hormone, mRNA (cDNA clone IMAGE:5017434), with apparent retained intron.
HZ409285 - JP 2015528002-A/1882: CHIRAL CONTROL.
LG052619 - KR 1020150036642-A/1885: CHIRAL CONTROL.
HZ074947 - JP 2013535982-A/1038: Single-Stranded RNAi Agents Containing an Internal, Non-Nucleic Acid Spacer.
HZ480539 - JP 2015535430-A/1045: TERMINALLY MODIFIED RNA.
JB621132 - Sequence 1112 from Patent WO2013063544.
JC513202 - Sequence 3455 from Patent WO2014113089.
LF160804 - JP 2016513950-A/870: Oligomers with improved off-target profile.
LQ070790 - Sequence 1114 from Patent EP2964234.
MA405450 - WO 2018155427-A/224: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA732175 - JP 2017140048-A/1045: TERMINALLY MODIFIED RNA.
LF323151 - JP 2014500723-A/130654: Polycomb-Associated Non-Coding RNAs.
MA558728 - JP 2018138019-A/130654: Polycomb-Associated Non-Coding RNAs.
JD458690 - Sequence 439714 from Patent EP1572962.
JD406863 - Sequence 387887 from Patent EP1572962.
JD173464 - Sequence 154488 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04350 - TGF-beta signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P03971 (Reactome details) participates in the following event(s):

R-HSA-8858346 AMHR2 binds AMH
R-HSA-201451 Signaling by BMP
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000221496.1, ENST00000221496.2, ENST00000221496.3, ENST00000221496.4, MIF, MIS_HUMAN, NM_000479, O75246, P03971, Q6GTN3, uc002lvh.1, uc002lvh.2, uc002lvh.3, uc002lvh.4
UCSC ID: ENST00000221496.5
RefSeq Accession: NM_000479
Protein: P03971 (aka MIS_HUMAN)
CCDS: CCDS12085.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.