AMH (anti-Mullerian hormone)

Gene

• Entrez ID: 268
• Gene name: Anti-Mullerian hormone
• Gene symbol: AMH
• Synonyms: MIF, MIS
• Chromosome: 19
• Chromosome location: 19p13.3
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606654	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397518444	->AGCTCAGCGTAGACCTCCGCGCC	Pathogenic	Stop gained, coding sequence variant, inframe indel

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT732860	hsa-miR-100-5p	Microarray, qRT-PCR	34172798
MIRT732861	hsa-miR-21-5p	Microarray, qRT-PCR	34172798

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Activation	13678390
GATA4	Activation	11097782;21220346
GATA4	Unknown	10446911
NFKB1	Activation	15383177
NR0B1	Repression	11990799
NR5A1	Activation	21220346
NR5A1	Unknown	10446911;9774680
RELA	Activation	15383177
SF1	Activation	11097782
SF1	Unknown	9774680
SOX9	Activation	11097782
SOX9	Unknown	9774680
VDR	Unknown	19056816
WT1	Activation	11097782

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001546	Process	Preantral ovarian follicle growth	IEA
GO:0001655	Process	Urogenital system development	IBA	21873635
GO:0001880	Process	Mullerian duct regression	IBA	21873635
GO:0001880	Process	Mullerian duct regression	IDA	14695376
GO:0001880	Process	Mullerian duct regression	NAS	14750901
GO:0005102	Function	Signaling receptor binding	IPI	14750901
GO:0005160	Function	Transforming growth factor beta receptor binding	IEA
GO:0005179	Function	Hormone activity	TAS	3754790
GO:0005576	Component	Extracellular region	NAS	14750901
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0007267	Process	Cell-cell signaling	TAS	3754790
GO:0007506	Process	Gonadal mesoderm development	IEA
GO:0007530	Process	Sex determination	TAS	3754790
GO:0007548	Process	Sex differentiation	TAS	12834017
GO:0007568	Process	Aging	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	14695376
GO:0014070	Process	Response to organic cyclic compound	IEA
GO:0030509	Process	BMP signaling pathway	TAS
GO:0042493	Process	Response to drug	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IEA
GO:2000355	Process	Negative regulation of ovarian follicle development	IEA

Other IDs

• MIM: 600957
• HGNC: 464
• e!Ensembl: ENSG00000104899

Protein

• UniProt ID: P03971
• Protein name: Muellerian-inhibiting factor (Anti-Muellerian hormone) (AMH) (Muellerian-inhibiting substance) (MIS)
• Protein function: Plays an important role in several reproductive functions. Induces Muellerian duct regression during male fetal sexual differentiation (PubMed:34155118, PubMed:3754790, PubMed:8469238). Also plays a role in Leydig cell differentiation and functi
• PDB: 7L0J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04709	AMH_N	77 → 442	Anti-Mullerian hormone, N terminal region	Family
  PF00019	TGF_beta	461 → 559	Transforming growth factor beta like domain	Domain

• Sequence:

  MRDLPLTSLALVLSALGALLGTEALRAEEPAVGTSGLIFREDLDWPPGSPQEPLCLVALG
  GDSNGSSSPLRVVGALSAYEQAFLGAVQRARWGPRDLATFGVCNTGDRQAALPSLRRLGA
  WLRDPGGQRLVVLHLEEVTWEPTPSLRFQEPPPGGAGPPELALLVLYPGPGPEVTVTRAG
  LPGAQSLCPSRDTRYLVLAVDRPAGAWRGSGLALTLQPRGEDSRLSTARLQALLFGDDHR
  CFTRMTPALLLLPRSEPAPLPAHGQLDTVPFPPPRPSAELEESPPSADPFLETLTRLVRA
  LRVPPARASAPRLALDPDALAGFPQGLVNLSDPAALERLLDGEEPLLLLLRPTAATTGDP
  APLHDPTSAPWATALARRVAAELQAAAAELRSLPGLPPATAPLLARLLALCPGGPGGLGD
  PLRALLLLKALQGLRVEWRGRDPRGPGRAQRSAGATAADGPCALRELSVDLRAERSVLIP
  ETYQANNCQGVCGWPQSDRNPRYGNHVVLLLKMQVRGAALARPPCCVPTAYAGKLLISLS
  EERISAHHVPNMVATECGCR

• Sequence length: 560

Pathways

KEGG:

cAMP signaling pathway
Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway
Hippo signaling pathway

Reactome:

Signaling by BMP

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Persistent mullerian duct syndrome	Persistent Müllerian duct syndrome	rs267606654, rs774592796, rs104894666, rs397518444, rs763798144, rs764761319, rs1939497801, rs137853104, rs781745214

Unknown
Disease name	Disease term	dbSNP ID	References
Female urogenital diseases	Female Urogenital Diseases		16002989
Male pseudohermaphroditism	Male Pseudohermaphroditism