Human Gene AMHR2 (ENST00000257863.9)
  Description: Homo sapiens anti-Mullerian hormone receptor type 2 (AMHR2), transcript variant 1, mRNA. (from RefSeq NM_020547)
RefSeq Summary (NM_020547): 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].
Gencode Transcript: ENST00000257863.9
Gencode Gene: ENSG00000135409.11
Transcript (Including UTRs)
   Position: hg38 chr12:53,423,855-53,431,672 Size: 7,818 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr12:53,423,935-53,431,473 Size: 7,539 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:53,423,855-53,431,672)mRNA (may differ from genome)Protein (573 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AMHR2_HUMAN
DESCRIPTION: RecName: Full=Anti-Muellerian hormone type-2 receptor; EC=2.7.11.30; AltName: Full=Anti-Muellerian hormone type II receptor; Short=AMH type II receptor; AltName: Full=MIS type II receptor; Short=MISRII; Short=MRII; Flags: Precursor;
FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.
CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
COFACTOR: Magnesium or manganese (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
DISEASE: Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]. PMDS2 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
SIMILARITY: Contains 1 protein kinase domain.
WEB RESOURCE: Name=Wikipedia; Note=Anti-Mullerian hormone entry; URL="http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone";

-  MalaCards Disease Associations
  MalaCards Gene Search: AMHR2
Diseases sorted by gene-association score: persistent mullerian duct syndrome, type ii* (1670), persistent mullerian duct syndrome (35), mixed gonadal dysgenesis (14), anovulation (7), chickenpox (7), sex differentiation disease (5), ovarian cancer, somatic (1)
* = 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: 30.87 RPKM in Adrenal Gland
Total median expression: 70.35 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
5' UTR -20.7080-0.259 Picture PostScript Text
3' UTR -58.20199-0.292 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
IPR000472 - Activin_rcpt
IPR015771 - Anti-muellerian_hrmn_rcpt_II
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom

Pfam Domains:
PF01064 - Activin types I and II receptor domain
PF00069 - Protein kinase domain

ModBase Predicted Comparative 3D Structure on Q16671
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-  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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0005026 transforming growth factor beta receptor activity, type II
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0042562 hormone binding
GO:0046872 metal ion binding
GO:1990272 anti-Mullerian hormone receptor activity

Biological Process:
GO:0001880 Mullerian duct regression
GO:0006468 protein phosphorylation
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007548 sex differentiation
GO:0008584 male gonad development
GO:0008585 female gonad development
GO:0016310 phosphorylation
GO:0030509 BMP signaling pathway
GO:1902613 negative regulation of anti-Mullerian hormone signaling pathway
GO:1990262 anti-Mullerian hormone signaling pathway

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  JD309330 - Sequence 290354 from Patent EP1572962.
AK313593 - Homo sapiens cDNA, FLJ94159.
AF172932 - Homo sapiens MIS type II receptor (MISRII) mRNA, complete cds.
BC126316 - Homo sapiens anti-Mullerian hormone receptor, type II, mRNA (cDNA clone MGC:161594 IMAGE:8992032), complete cds.
BC136356 - Homo sapiens anti-Mullerian hormone receptor, type II, mRNA (cDNA clone MGC:167966 IMAGE:9020343), complete cds.
JD402783 - Sequence 383807 from Patent EP1572962.
JD270056 - Sequence 251080 from Patent EP1572962.
HQ258327 - Synthetic construct Homo sapiens clone IMAGE:100072636 anti-Mullerian hormone receptor, type II (AMHR2) gene, encodes complete protein.
KJ890668 - Synthetic construct Homo sapiens clone ccsbBroadEn_00062 AMHR2 gene, encodes complete protein.
KR711670 - Synthetic construct Homo sapiens clone CCSBHm_00028385 AMHR2 (AMHR2) mRNA, encodes complete protein.
KR711671 - Synthetic construct Homo sapiens clone CCSBHm_00028389 AMHR2 (AMHR2) mRNA, encodes complete protein.
KR711672 - Synthetic construct Homo sapiens clone CCSBHm_00028390 AMHR2 (AMHR2) mRNA, encodes complete protein.
KR711673 - Synthetic construct Homo sapiens clone CCSBHm_00028392 AMHR2 (AMHR2) mRNA, encodes complete protein.
AY714878 - Homo sapiens anti-Mullerian hormone receptor type II (AMHR2) mRNA, complete cds, alternatively spliced.
CR627318 - Homo sapiens mRNA; cDNA DKFZp686F15186 (from clone DKFZp686F15186).

-  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 Q16671 (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: A0AVE1, AMHR, AMHR2_HUMAN, B9EGB7, ENST00000257863.1, ENST00000257863.2, ENST00000257863.3, ENST00000257863.4, ENST00000257863.5, ENST00000257863.6, ENST00000257863.7, ENST00000257863.8, MISR2, NM_020547, Q13762, Q16671, uc001scx.1, uc001scx.2, uc001scx.3
UCSC ID: ENST00000257863.9
RefSeq Accession: NM_020547
Protein: Q16671 (aka AMHR2_HUMAN or AMH2_HUMAN)
CCDS: CCDS8858.1

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