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    AMHR2 anti-Mullerian hormone receptor type 2 [ Homo sapiens (human) ]

    Gene ID: 269, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AMHR2provided by HGNC
    Official Full Name
    anti-Mullerian hormone receptor type 2provided by HGNC
    Primary source
    HGNC:HGNC:465
    See related
    Ensembl:ENSG00000135409 MIM:600956; AllianceGenome:HGNC:465
    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]
    Expression
    Biased expression in ovary (RPKM 12.2), adrenal (RPKM 9.0) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMHR2 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53423855..53431672)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53389898..53397715)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53817639..53825456)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53721571-53722293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53722294-53723015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4506 Neighboring gene Sp7 transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4508 Neighboring gene Sharpr-MPRA regulatory region 10893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4509 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:53774734-53775492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6420 Neighboring gene Sp1 transcription factor Neighboring gene CRISPRi-validated cis-regulatory element chr12.1897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53834490-53835255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4513 Neighboring gene proline rich 13 Neighboring gene poly(rC) binding protein 2 Neighboring gene PCBP2 overlapping transcript 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Analyzing the possible involvement of anti-Müllerian hormone and anti-Müllerian hormone receptor II single nucleotide polymorphism in infertility. Yoshida Y, et al. J Assist Reprod Genet, 2014 Feb. PMID 24271023, Free PMC Article
    2. A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway. Li L, et al. Mol Hum Reprod, 2016 Sep. PMID 27430550
    3. Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport. Belville C, et al. Hum Mol Genet, 2009 Aug 15. PMID 19457927
    4. Mutations of the AMH type II receptor in two extended families with persistent Müllerian duct syndrome: lack of phenotype/genotype correlation. Abduljabbar M, et al. Horm Res Paediatr, 2012. PMID 22584735
    5. The ovarian response to standard gonadotropin stimulation is influenced by AMHRII genotypes. Lazaros L, et al. Gynecol Endocrinol, 2016 Aug. PMID 26933946

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.
      Title: AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.
    2. Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women.
      Title: Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women.
    3. A novel mutation of AMHR2 in two brothers with persistent Mullerian duct syndrome and their intracytoplasmic sperm injection outcome.
      Title: A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.
    4. Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Mullerian Duct Syndrome in Three Cases.
      Title: Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases.
    5. Assessment of Anti-Mullerian Hormone and Anti-Mullerian Hormone Type II Receptor Variants in Women with Repeated Implantation Failures.
      Title: Assessment of Anti-Mullerian Hormone and Anti-Mullerian Hormone Type II Receptor Variants in Women with Repeated Implantation Failures.
    6. Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.
      Title: Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.
    7. DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS).
      Title: DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS).
    8. Can polymorphisms of AMH/AMHR2 affect ovarian stimulation outcomes? A systematic review and meta-analysis.
      Title: Can polymorphisms of AMH/AMHR2 affect ovarian stimulation outcomes? A systematic review and meta-analysis.
    9. Anti-Mullerian Hormone Type II Receptor Expression in Endometrial Cancer Tissue.
      Title: Anti-Müllerian Hormone Type II Receptor Expression in Endometrial Cancer Tissue.
    10. Mutational Analysis of the Putative Anti-Mullerian Hormone (AMH) Binding Interface on its Type II Receptor, AMHR2.
      Title: Mutational Analysis of the Putative Anti-Müllerian Hormone (AMH) Binding Interface on its Type II Receptor, AMHR2.
    Submit: New GeneRIF Correction See all GeneRIFs (59)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Persistent Mullerian duct syndrome
    MedGen: C1849930 OMIM: 261550 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables anti-Mullerian hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables anti-Mullerian hormone receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables hormone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transforming growth factor beta receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transforming growth factor beta receptor activity, type II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Mullerian duct regression NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in anti-Mullerian hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in anti-Mullerian hormone receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in blood vessel development IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sex differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sex differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    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
    Muellerian inhibiting substance type II receptor
    Mullerian inhibiting substance type II receptor
    anti-Muellerian hormone type II receptor
    anti-Mullerian hormone receptor, type II
    NP_001158162.1
    NP_001158163.1
    NP_065434.1
    XP_011536475.1
    XP_011536476.1
    XP_011536478.1
    XP_011536480.1
    XP_011536481.1
    XP_011536482.1
    XP_011536483.1
    XP_011536485.1
    XP_011536486.1
    XP_011536487.1
    XP_011536488.1
    XP_016874668.1
    XP_024304706.1
    XP_047284656.1
    XP_054227711.1
    XP_054227712.1
    XP_054227713.1
    XP_054227714.1
    XP_054227715.1
    XP_054227716.1
    XP_054227717.1
    XP_054227718.1
    XP_054227719.1
    XP_054227720.1
    XP_054227721.1
    XP_054227722.1
    XP_054227723.1
    XP_054227724.1

    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.

    Genomic

    1. NG_015981.1 RefSeqGene

      Range
      5001..12818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164690.2 → NP_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. Variants 2 and 3 encode isoforms that are the same length, but have distinct protein sequences.
      Source sequence(s)
      AJ572328, AK313593, DB020573
      Consensus CDS
      CCDS55829.1
      UniProtKB/Swiss-Prot
      Q16671
      Related
      ENSP00000446661.1, ENST00000550311.5
      Conserved Domains (2) summary
      cl10471
      Location:61 → 123
      LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...
      cl21453
      Location:207 → 429
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001164691.2 → NP_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. Variants 2 and 3 encode isoforms that are the same length, but have distinct protein sequences.
      Source sequence(s)
      AJ572328, AY714878, BC126316, DB020573
      Consensus CDS
      CCDS53798.1
      UniProtKB/Swiss-Prot
      Q16671
      Related
      ENSP00000369117.3, ENST00000379791.7
      Conserved Domains (2) summary
      smart00221
      Location:203 → 408
      STYKc; Protein kinase; unclassified specificity
      cl21453
      Location:207 → 413
      PKc_like; Protein Kinases, catalytic domain

    3. NM_020547.3 → NP_065434.1  anti-Muellerian hormone type-2 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_065434.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC068889, AF172932, AJ572328, DB020573
      Consensus CDS
      CCDS8858.1
      UniProtKB/Swiss-Prot
      A0AVE1, B9EGB7, E9PGD2, F8W1D2, Q13762, Q16671, Q647K2
      Related
      ENSP00000257863.3, ENST00000257863.9
      Conserved Domains (2) summary
      cd14054
      Location:207 → 508
      STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors
      pfam01064
      Location:61 → 119
      Activin_recp; Activin types I and II receptor domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53423855..53431672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538184.2 → XP_011536486.1  anti-Muellerian hormone type-2 receptor isoform X11

      Conserved Domains (1) summary
      cl21453
      Location:208 → 404
      PKc_like; Protein Kinases, catalytic domain

    2. XM_011538173.2 → XP_011536475.1  anti-Muellerian hormone type-2 receptor isoform X1

      Conserved Domains (2) summary
      pfam00069
      Location:208 → 531
      Pkinase; Protein kinase domain
      cl21453
      Location:208 → 528
      PKc_like; Protein Kinases, catalytic domain

    3. XM_017019179.2 → XP_016874668.1  anti-Muellerian hormone type-2 receptor isoform X9

    4. XM_011538183.2 → XP_011536485.1  anti-Muellerian hormone type-2 receptor isoform X10

      Conserved Domains (1) summary
      cl21453
      Location:208 → 400
      PKc_like; Protein Kinases, catalytic domain

    5. XM_011538179.2 → XP_011536481.1  anti-Muellerian hormone type-2 receptor isoform X5

      Conserved Domains (2) summary
      smart00221
      Location:208 → 428
      STYKc; Protein kinase; unclassified specificity
      cl21453
      Location:208 → 433
      PKc_like; Protein Kinases, catalytic domain

    6. XM_011538176.2 → XP_011536478.1  anti-Muellerian hormone type-2 receptor isoform X3

      Conserved Domains (2) summary
      smart00220
      Location:208 → 512
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14054
      Location:208 → 509
      STKc_BMPR2_AMHR2; Catalytic domain of the Serine/Threonine Kinases, Bone Morphogenetic Protein and Anti-Muellerian Hormone Type II Receptors

    7. XM_024448938.2 → XP_024304706.1  anti-Muellerian hormone type-2 receptor isoform X8

      Conserved Domains (2) summary
      pfam01064
      Location:61 → 119
      Activin_recp; Activin types I and II receptor domain
      cl21453
      Location:208 → 414
      PKc_like; Protein Kinases, catalytic domain

    8. XM_011538185.2 → XP_011536487.1  anti-Muellerian hormone type-2 receptor isoform X12

      Conserved Domains (1) summary
      cl21453
      Location:208 → 285
      PKc_like; Protein Kinases, catalytic domain

    9. XM_011538174.2 → XP_011536476.1  anti-Muellerian hormone type-2 receptor isoform X2

      Conserved Domains (2) summary
      pfam00069
      Location:205 → 530
      Pkinase; Protein kinase domain
      cl21453
      Location:207 → 527
      PKc_like; Protein Kinases, catalytic domain

    10. XM_011538178.2 → XP_011536480.1  anti-Muellerian hormone type-2 receptor isoform X4

      Conserved Domains (1) summary
      cl21453
      Location:175 → 455
      PKc_like; Protein Kinases, catalytic domain

    11. XM_047428700.1 → XP_047284656.1  anti-Muellerian hormone type-2 receptor isoform X14

    12. XM_011538180.2 → XP_011536482.1  anti-Muellerian hormone type-2 receptor isoform X6

      Conserved Domains (2) summary
      pfam00069
      Location:96 → 420
      Pkinase; Protein kinase domain
      cl21453
      Location:97 → 417
      PKc_like; Protein Kinases, catalytic domain

    13. XM_011538181.2 → XP_011536483.1  anti-Muellerian hormone type-2 receptor isoform X7

      Conserved Domains (2) summary
      pfam00069
      Location:96 → 419
      Pkinase; Protein kinase domain
      cl21453
      Location:96 → 416
      PKc_like; Protein Kinases, catalytic domain

    14. XM_011538186.4 → XP_011536488.1  anti-Muellerian hormone type-2 receptor isoform X13

      Conserved Domains (1) summary
      cl21453
      Location:46 → 233
      PKc_like; Protein Kinases, catalytic domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53389898..53397715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371746.1 → XP_054227721.1  anti-Muellerian hormone type-2 receptor isoform X11

    2. XM_054371736.1 → XP_054227711.1  anti-Muellerian hormone type-2 receptor isoform X1

    3. XM_054371744.1 → XP_054227719.1  anti-Muellerian hormone type-2 receptor isoform X9

    4. XM_054371745.1 → XP_054227720.1  anti-Muellerian hormone type-2 receptor isoform X10

    5. XM_054371740.1 → XP_054227715.1  anti-Muellerian hormone type-2 receptor isoform X5

    6. XM_054371738.1 → XP_054227713.1  anti-Muellerian hormone type-2 receptor isoform X3

    7. XM_054371743.1 → XP_054227718.1  anti-Muellerian hormone type-2 receptor isoform X8

    8. XM_054371747.1 → XP_054227722.1  anti-Muellerian hormone type-2 receptor isoform X12

    9. XM_054371737.1 → XP_054227712.1  anti-Muellerian hormone type-2 receptor isoform X2

    10. XM_054371739.1 → XP_054227714.1  anti-Muellerian hormone type-2 receptor isoform X4

    11. XM_054371749.1 → XP_054227724.1  anti-Muellerian hormone type-2 receptor isoform X14

    12. XM_054371741.1 → XP_054227716.1  anti-Muellerian hormone type-2 receptor isoform X6

    13. XM_054371742.1 → XP_054227717.1  anti-Muellerian hormone type-2 receptor isoform X7

    14. XM_054371748.1 → XP_054227723.1  anti-Muellerian hormone type-2 receptor isoform X13

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16671.1 GenPept UniProtKB/Swiss-Prot:Q16671

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