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

Gene ID: 269, updated on 27-Nov-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
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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
  • 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)

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 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 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 I IEA
Inferred from Electronic Annotation
more info
  
enables transforming growth factor beta receptor activity, type II IDA
Inferred from Direct Assay
more info
 PubMed 
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 Mullerian duct regression NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in activin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
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 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 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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