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    Amhr2 anti-Mullerian hormone type 2 receptor [ Mus musculus (house mouse) ]

    Gene ID: 110542, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Amhr2provided by MGI
    Official Full Name
    anti-Mullerian hormone type 2 receptorprovided by MGI
    Primary source
    MGI:MGI:105062
    See related
    Ensembl:ENSMUSG00000023047 AllianceGenome:MGI:105062
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    C14; Mrii; Misiir; Misrii
    Summary
    Predicted to enable several functions, including anti-Mullerian hormone receptor activity; protein homodimerization activity; and transforming growth factor beta receptor activity, type II. Acts upstream of or within sex differentiation. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including bone; early embryo; forebrain; genitourinary system; and spinal cord lumbar region. Used to study persistent Mullerian duct syndrome. Human ortholog(s) of this gene implicated in persistent Mullerian duct syndrome. Orthologous to human AMHR2 (anti-Mullerian hormone receptor type 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 55.6) and ovary adult (RPKM 49.5) See more
    Orthologs
    human all
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    Genomic context

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    See Amhr2 in Genome Data Viewer
    Location:
    15 F3; 15 57.58 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (102353437..102363075)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (102445002..102454640)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene Sp7 transcription factor 7 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:102212079-102212188 Neighboring gene STARR-seq mESC enhancer starr_39837 Neighboring gene STARR-seq mESC enhancer starr_39838 Neighboring gene STARR-seq mESC enhancer starr_39839 Neighboring gene STARR-seq mESC enhancer starr_39841 Neighboring gene trans-acting transcription factor 1 Neighboring gene STARR-seq mESC enhancer starr_39842 Neighboring gene STARR-positive B cell enhancer ABC_E7423 Neighboring gene STARR-positive B cell enhancer ABC_E1179 Neighboring gene STARR-seq mESC enhancer starr_39843 Neighboring gene predicted gene, 24128 Neighboring gene proline rich 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A screen of repurposed drugs identifies AMHR2/MISR2 agonists as potential contraceptives. Li Y, et al. Proc Natl Acad Sci U S A, 2022 Apr 12. PMID 35380904, Free PMC Article
    2. Female mice chimeric for expression of the simian virus 40 TAg under control of the MISIIR promoter develop epithelial ovarian cancer. Connolly DC, et al. Cancer Res, 2003 Mar 15. PMID 12649204
    3. Single-cell sequencing reveals suppressive transcriptional programs regulated by MIS/AMH in neonatal ovaries. Meinsohn MC, et al. Proc Natl Acad Sci U S A, 2021 May 18. PMID 33980714, Free PMC Article
    4. A Long Noncoding RNA, lncRNA-Amhr2, Plays a Role in Amhr2 Gene Activation in Mouse Ovarian Granulosa Cells. Kimura AP, et al. Endocrinology, 2017 Nov 1. PMID 28938492
    5. Sequence, genomic organization, and chromosomal location of the mouse Müllerian-inhibiting substance type II receptor gene. Mishina Y, et al. Biochem Biophys Res Commun, 1997 Aug 28. PMID 9299437

    See all (218) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Insulin-like Growth Factor 1, Growth Hormone, and Anti-Mullerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development.
      Title: Insulin-like Growth Factor 1, Growth Hormone, and Anti-Müllerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development.
    2. Chicken ovalbumin upstream promoter transcription factor type II interacts and functionally cooperates with GATA4 to regulate anti-Mullerian hormone receptor type 2 transcription in mouse MA-10 Leydig cells.
      Title: Chicken ovalbumin upstream promoter transcription factor type II interacts and functionally cooperates with GATA4 to regulate anti-Müllerian hormone receptor type 2 transcription in mouse MA-10 Leydig cells.
    3. Exposure to MIS during the first six days of life, by inhibiting specification of the stroma, dysregulates paracrine signals necessary for uterine development, eventually resulting in apoptosis of the Misr2+ cells, uterine hypoplasia, and complete infertility in the adult female.
      Title: Single-cell sequencing of neonatal uterus reveals an Misr2+ endometrial progenitor indispensable for fertility.
    4. lncRNA-Amhr2 plays a role in Amhr2 gene activation in ovarian granulosa cells by enhancing promoter activity, providing insight into Amhr2 gene regulation underlying the AMH signaling in the female reproductive system.
      Title: A Long Noncoding RNA, lncRNA-Amhr2, Plays a Role in Amhr2 Gene Activation in Mouse Ovarian Granulosa Cells.
    5. A significant subset of GnRH neurons express the AMH receptor and AMH potently activates the GnRH neuron firing.
      Title: Novel role for anti-Müllerian hormone in the regulation of GnRH neuron excitability and hormone secretion.
    6. physiological function(s) of type 2 anti-Mullerian hormone receptor
      Title: The type 2 anti-Müllerian hormone receptor has splice variants that are dominant-negative inhibitors.
    7. Wt1 is an activator of Amhr2.
      Title: Wilms' tumor protein Wt1 is an activator of the anti-Müllerian hormone receptor gene Amhr2.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC141312

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables BMP receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables activin receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables activin receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables anti-Mullerian hormone receptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables anti-Mullerian hormone receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables hormone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hormone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transforming growth factor beta receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transforming growth factor beta receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables transforming growth factor beta receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transforming growth factor beta receptor activity, type II ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transforming growth factor beta receptor activity, type III IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anti-Mullerian hormone receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in anti-Mullerian hormone receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in female gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sex differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    anti-Muellerian hormone type-2 receptor
    Names
    AMH type II receptor
    MIS type II receptor
    anti-Muellerian hormone type II receptor
    anti-Mullerian hormone type 2 receptor delta 2
    anti-Mullerian hormone type 2 receptor delta 9/10
    NP_001343504.1
    NP_653130.2
    XP_006520357.1

    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.

    mRNA and Protein(s)

    1. NM_001356575.1 → NP_001343504.1  anti-Muellerian hormone type-2 receptor precursor

      Status: VALIDATED

      Source sequence(s)
      AC137156
      Consensus CDS
      CCDS27882.1
      UniProtKB/Swiss-Prot
      Q0VDQ4, Q8K592
      Conserved Domains (2) summary
      pfam01064
      Location:61 → 119
      Activin_recp; Activin types I and II receptor domain
      cl21453
      Location:203 → 504
      PKc_like; Protein Kinases, catalytic domain

    2. NM_144547.2 → NP_653130.2  anti-Muellerian hormone type-2 receptor precursor

      See identical proteins and their annotated locations for NP_653130.2

      Status: VALIDATED

      Source sequence(s)
      BB052908, BB868995, BC119571, CJ194934
      Consensus CDS
      CCDS27882.1
      UniProtKB/Swiss-Prot
      Q0VDQ4, Q8K592
      Related
      ENSMUSP00000023809.5, ENSMUST00000023809.11
      Conserved Domains (2) summary
      pfam01064
      Location:61 → 119
      Activin_recp; Activin types I and II receptor domain
      cl21453
      Location:203 → 504
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      102353437..102363075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520294.5 → XP_006520357.1  anti-Muellerian hormone type-2 receptor isoform X1

      Conserved Domains (1) summary
      cl21453
      Location:203 → 409
      PKc_like; Protein Kinases, catalytic domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K592.2 GenPept UniProtKB/Swiss-Prot:Q8K592

    Gene LinkOut

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