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    AMHR2 anti-Mullerian hormone receptor, type II [ Homo sapiens (human) ]

    Gene ID: 269, updated on 11-May-2013
    Official Symbol
    AMHR2provided by HGNC
    Official Full Name
    anti-Mullerian hormone receptor, type IIprovided by HGNC
    Primary source
    HGNC:465
    See related
    Ensembl:ENSG00000135409; HPRD:02978; MIM:600956; Vega:OTTHUMG00000170048
    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
    AMHR; MRII; MISR2; MISRII
    Summary
    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]
    Location :
    12q13
    Sequence :
    Chromosome: 12; NC_000012.11 (53817639..53825318)
    See AMHR2 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene Sp7 transcription factor Neighboring gene Sp1 transcription factor Neighboring gene proline rich 13 Neighboring gene poly(rC) binding protein 2 Neighboring gene mitogen-activated protein kinase kinase kinase 12

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description
    Q16671 P03971 AMH    HPRD  PubMed  
    Q16671 O00238 BMPR1B    HPRD  PubMed  
    Q16671 P36897 TGFBR1    HPRD  PubMed  
    BioGRID:106766 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-Luminescence; Affinity Capture-Western 
    BioGRID:106766 BioGRID:111700 PTEN    BioGRID  PubMed Affinity Capture-MS 
    • ALK2 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK2 signaling events, organism-specific biosystem
      ALK2 signaling events
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    hormone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Mullerian duct regression NAS
    Non-traceable Author Statement
    more info
    PubMed 
    sex differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sex differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    anti-Muellerian hormone type-2 receptor
    Names
    anti-Muellerian hormone type-2 receptor
    AMH type II receptor
    MIS type II receptor
    anti-Muellerian hormone type II receptor
    Mullerian inhibiting substance type II receptor
    Muellerian inhibiting substance type II receptor
    NP_001158162.1
    NP_001158163.1
    NP_065434.1

    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

    1. NG_015981.1 RefSeqGene

      Range
      5001..12680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164690.1NP_001158162.1  anti-Muellerian hormone type-2 receptor isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which results in a frameshift and early stop codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AJ572328, AK313593, DB020573
      Consensus CDS
      CCDS55829.1
      UniProtKB/Swiss-Prot
      Q16671
      Related
      ENSP00000446661, OTTHUMP00000242708, ENST00000550311, OTTHUMT00000407049
      Conserved Domains (2) summary
      cd00180
      Location:209429
      Blast Score: 285
      PKc; Catalytic domain of Protein Kinases
      pfam01064
      Location:61123
      Blast Score: 85
      Activin_recp; Activin types I and II receptor domain
    2. NM_001164691.1NP_001158163.1  anti-Muellerian hormone type-2 receptor isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
      Source sequence(s)
      AJ572328, AY714878, BC126316, DB020573
      Consensus CDS
      CCDS53798.1
      UniProtKB/Swiss-Prot
      Q16671
      Related
      ENSP00000369117, OTTHUMP00000242709, ENST00000379791, OTTHUMT00000407050
      Conserved Domains (1) summary
      cd00180
      Location:209404
      Blast Score: 231
      PKc; Catalytic domain of Protein Kinases
    3. NM_020547.2NP_065434.1  anti-Muellerian hormone type-2 receptor isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC068889, AF172932, DB020573
      Consensus CDS
      CCDS8858.1
      UniProtKB/Swiss-Prot
      Q16671
      Related
      ENSP00000257863, OTTHUMP00000242707, ENST00000257863, OTTHUMT00000407048
      Conserved Domains (3) summary
      cd00180
      Location:209432
      Blast Score: 293
      PKc; Catalytic domain of Protein Kinases
      pfam01064
      Location:61123
      Blast Score: 79
      Activin_recp; Activin types I and II receptor domain
      pfam00069
      Location:203511
      Blast Score: 370
      Pkinase; Protein kinase domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p10 Primary Assembly

      Range
      53817639..53825318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      50858022..50865704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      53651839..53659518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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