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

Gene ID: 268, updated on 21-Apr-2019

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
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

Genomic context

See AMH in Genome Data Viewer
Location:
19p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (2249279..2252073)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2249113..2252072)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing J1 Neighboring gene microRNA 6789 Neighboring gene splicing factor 3a subunit 2 Neighboring gene AMH 5' regulatory region Neighboring gene microRNA 4321 Neighboring gene junctional sarcoplasmic reticulum protein 1 Neighboring gene uncharacterized LOC105372240

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • ALK2 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ALK2 signaling events, organism-specific biosystem
    ALK2 signaling events
  • BMP signaling, organism-specific biosystem (from KEGG)
    BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • BMP signaling, conserved biosystem (from KEGG)
    BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
hormone activity TAS
Traceable Author Statement
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
BMP signaling pathway TAS
Traceable Author Statement
more info
 
Mullerian duct regression IDA
Inferred from Direct Assay
more info
PubMed 
Mullerian duct regression NAS
Non-traceable Author Statement
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
gonadal mesoderm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NF-kappaB transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
preantral ovarian follicle growth IEA
Inferred from Electronic Annotation
more info
 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
sex determination TAS
Traceable Author Statement
more info
PubMed 
sex differentiation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 

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)

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_012190.1 RefSeqGene

    Range
    5166..7960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000479.4NP_000470.2  muellerian-inhibiting factor preproprotein

    See identical proteins and their annotated locations for NP_000470.2

    Status: REVIEWED

    Source sequence(s)
    AC005263, AI791949, BC049194
    Consensus CDS
    CCDS12085.1
    UniProtKB/Swiss-Prot
    P03971
    Related
    ENSP00000221496.2, ENST00000221496.4
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    2249279..2252073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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