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

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; AllianceGenome:HGNC:464
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: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2249323..2252073)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2222966..2225716)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2249322..2252072)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of anti-Mullerian hormone and insulin resistance in adolescent girls with polycystic ovary syndrome.
Title: Association of anti-Müllerian hormone and insulin resistance in adolescent girls with polycystic ovary syndrome.
Lower serum AMH concentration is correlated with serum IgG1 decreased in the infertile woman: A real-world retrospective study.
Title: Lower serum AMH concentration is correlated with serum IgG1 decreased in the infertile woman: A real-world retrospective study.
Antimullerian Hormone, a Marker of Ovarian Reserve, Is Protective Against Presence and Severity of NASH in Premenopausal Women.
Title: Antimullerian Hormone, a Marker of Ovarian Reserve, Is Protective Against Presence and Severity of NASH in Premenopausal Women.
Anti-Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross-sectional study.
Title: Anti-Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross-sectional study.
Serum anti-Mullerian hormone concentrations are related to embryo development: lessons from time-lapse imaging.
Title: Serum anti-Müllerian hormone concentrations are related to embryo development: lessons from time-lapse imaging.
Dose inhibin B or anti-Mullerian hormone relate to precocious puberty in girls? result of a systematic review and meta-analysis.
Title: Dose inhibin B or anti-Müllerian hormone relate to precocious puberty in girls? result of a systematic review and meta-analysis.
Clinical significance of vit D and AMH and its correlation with polycystic ovarian parameters in obese and non-obese Egyptian women.
Title: Clinical significance of vit D and AMH and its correlation with polycystic ovarian parameters in obese and non-obese Egyptian women.
The Association of Anti-Mullerian Hormone and Infertility Hormonal Imbalance with Polycystic Ovarian Syndrome Among Iraqi Patients.
Title: The Association of Anti-Mullerian Hormone and Infertility Hormonal Imbalance with Polycystic Ovarian Syndrome Among Iraqi Patients.
Anti-Mullerian Hormone promotes human osteoblast differentiation and calcification by modulating osteogenic gene expression.
Title: Anti-Müllerian Hormone promotes human osteoblast differentiation and calcification by modulating osteogenic gene expression.
Anti-Mullerian hormone and cardiometabolic status: a systematic review.
Title: Anti-Mullerian hormone and cardiometabolic status: a systematic review.

Submit: New GeneRIF Correction See all GeneRIFs (380)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Persistent Mullerian duct syndrome MedGen: C1849930 OMIM: 261550 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71348 (e-PCR)
- UniSTS:34623

AMH_42 (e-PCR)
- UniSTS:276163

AMH (e-PCR)
- UniSTS:253947

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables hormone activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables type II transforming growth factor beta receptor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Leydig cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in Mullerian duct regression	IBA Inferred from Biological aspect of Ancestor more info
involved_in Mullerian duct regression	IDA Inferred from Direct Assay more info	PubMed
involved_in Mullerian duct regression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Mullerian duct regression	NAS Non-traceable Author Statement more info	PubMed
involved_in anti-Mullerian hormone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in gonadal mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in preantral ovarian follicle growth	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sex determination	TAS Traceable Author Statement more info	PubMed
involved_in sex differentiation	TAS Traceable Author Statement more info	PubMed
involved_in urogenital system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: muellerian-inhibiting factor

Names: Mullerian inhibiting factor; Mullerian inhibiting substance; anti-Muellerian hormone; muellerian-inhibiting substance

NCBI Reference Sequences (RefSeq)

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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

NG_012190.2 RefSeqGene

Range

5002..7752

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000479.5 → NP_000470.3 muellerian-inhibiting factor preproprotein

Status: REVIEWED

Source sequence(s)

AC005263

Consensus CDS

CCDS12085.1

UniProtKB/Swiss-Prot

O75246, P03971, Q6GTN3

Related

ENSP00000221496.2, ENST00000221496.5

Conserved Domains (2) summary

smart00204
Location:462 → 560

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam04709
Location:77 → 398

AMH_N; Anti-Mullerian hormone, N terminal region