AMHR2

Protein identityUniProt · HPA

UniProt accession

Q16671

Gene

AMHR2

Ensembl

ENSG00000135409

Chromosome

12

Canonical length

573 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

573 residues, UniProt reviewed canonical sequence.

>Q16671|AMHR2
     1  MLGSLGLWAL LPTAVEAPPN RRTCVFFEAP GVRGSTKTLG ELLDTGTELP RAIRCLYSRC
    61  CFGIWNLTQD RAQVEMQGCR DSDEPGCESL HCDPSPRAHP SPGSTLFTCS CGTDFCNANY
   121  SHLPPPGSPG TPGSQGPQAA PGESIWMALV LLGLFLLLLL LLGSIILALL QRKNYRVRGE
   181  PVPEPRPDSG RDWSVELQEL PELCFSQVIR EGGHAVVWAG QLQGKLVAIK AFPPRSVAQF
   241  QAERALYELP GLQHDHIVRF ITASRGGPGR LLSGPLLVLE LHPKGSLCHY LTQYTSDWGS
   301  SLRMALSLAQ GLAFLHEERW QNGQYKPGIA HRDLSSQNVL IREDGSCAIG DLGLALVLPG
   361  LTQPPAWTPT QPQGPAAIME AGTQRYMAPE LLDKTLDLQD WGMALRRADI YSLALLLWEI
   421  LSRCPDLRPD SSPPPFQLAY EAELGNTPTS DELWALAVQE RRRPYIPSTW RCFATDPDGL
   481  RELLEDCWDA DPEARLTAEC VQQRLAALAH PQESHPFPES CPRGCPPLCP EDCTSIPAPT
   541  ILPCRPQRSA CHFSVQQGPC SRNPQPACTL SPV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMHR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMHR2.

Disease | AllUniProt

Conditions AMHR2 is implicated in, by any mechanism.

• Persistent Muellerian duct syndrome 2 (PMDS2) MIM:261550

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Persistent Mullerian duct syndrome
• Persistent mullerian duct syndrome, type II
• Genetic non-acquired premature ovarian failure
• Differences in sex development
• AMHR2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.93

gnomAD pLI

0

gnomAD missense Z

0.39

DepMap mean gene effect

-0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anti-Mullerian hormone receptor signaling pathway
• BMP signaling pathway
• cellular response to growth factor stimulus
• female gonad development
• male gonad development
• Mullerian duct regression
• sex differentiation
• transforming growth factor beta receptor signaling pathway

Molecular functions

• ATP binding
• hormone binding
• metal ion binding
• protein homodimerization activity
• transforming growth factor beta receptor activity
• transforming growth factor beta receptor activity, type II
• anti-Mullerian hormone receptor activity

Cellular components

• plasma membrane
• receptor complex

Protein domainsUniProt · Pfam · InterPro

• Ser/Thr protein kinase, TGFB receptor
• Protein kinase domain
• Protein kinase-like domain superfamily
• Snake toxin-like superfamily
• Protein kinase domain
• Anti-muellerian hormone receptor, type II

KeywordsUniProt

• ATP-binding
• Disulfide bond
• Glycoprotein
• Kinase
• Magnesium
• Manganese
• Membrane
• Metal-binding
• Nucleotide-binding
• Pseudohermaphroditism
• Receptor
• Serine/threonine-protein kinase
• Signal
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of AMHR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSP90AA1