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AMHR2 Gene

protein-coding   GIFtS: 63

GC12P052103
anti-Mullerian hormone receptor, type II
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
AMHR 2, 3, 5
EC 2.7.11.30 3
MISR2 1, 2
MISRII 1, 2, 3
MRII 3
Descriptions
AMH type II receptor 3
Anti-Muellerian hormone type II receptor 3
MIS type II receptor 3
Mullerian inhibiting substance type II receptor 2
anti-Mullerian hormone receptor, type II 2
External Ids
HGNC: 4651
Entrez Gene: 2692
UniProtKB: Q166713
Ensembl: ENSG000001354097
Search outside databases for aliases for AMHR2 gene

Previous GC identifers: GC12P053823 GC12P053925 GC12P053534

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AMHR2 gene  

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13

AMHR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P052103:     (about GC identifiers)

Start:
52,103,908 bp from pter
End:
52,111,579 bp from pter
Size:
7,672 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000012.10  NT_029419.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671 (See protein sequence)
Recommended Name: Anti-Muellerian hormone type-2 receptor precursor  
Size: 573 amino acids; 62750 Da
Cofactor: Magnesium or manganese (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: A0AVE1 Q13762

REFSEQ proteins: NP_065434.1  

ENSEMBL proteins: 
ENSP00000369117 ENSP00000257863 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Sigma-Aldrich CompoZr ZFN for AMHR2  
R&D Systems Recombinant & Natural Proteins for AMHR2 (MIS RII)
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (AMHR2)
Browse Abnova for Human Recombinant Proteins
              OriGene Purified Recombinant Human Protein: AMHR2 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005887 integral to plasma membrane IEA--
GO:0016020 membrane IEA--
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Antibodies for AMHR2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for AMHR2
R&D Systems Antibodies for AMHR2 (MIS RII)
Cell Signaling Technology (CST) Antibodies for AMHR2  (MIS-R2)
Antibodies from Abcam (AMHR2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (AMHR2)
Search Novus for antibodies for AMHR2

Assays for AMHR2: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5/6 InterPro domains/families (see all 6 ):
 IPR017441 Protein_kinase_ATP_BS
 IPR017442 Se/Thr_pkinase-rel
 IPR008271 Ser_thr_pkin_AS
 IPR015771 Anti-muellerian_hrmn_rcpt_II_C
 IPR000719 Prot_kinase_core


   GeneDecks  AMHR2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q16671

ProtoNet protein and cluster: Q16671

1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor

UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB
receptor subfamily
Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AMHR2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (AMHR2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020547

              Applied Biosystems Silencer® siRNAs for AMHR2

              Sigma-Aldrich siRNA and siRNA Panels for AMHR2  
                     Sigma-Aldrich shRNA Panels and shRNA for AMHR2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020547
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020547
                                 untagged cDNA clone in CMV expression vector: NM_020547 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_020547

UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671
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
Enzyme Number (IUBMB): EC 2.7.11.30 

Genatlas biochemistry entry for AMHR2:
anti-Mullerian hormone receptor TGF,beta superfamily

6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Amhr2):

endocrine/exocrine glandhomeostasis/metabolismno phenotypic analysisreproductive system
tumorigenesis

5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0000287 magnesium ion binding IEA--
GO:0004674 protein serine/threonine kinase activity IEA--
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA--
GO:0004872 receptor activity IMP7493017
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  AMHR2  (Your Favorite Gene powered by Ingenuity) 
 TGF-&beta

   GeneDecks  AMHR2 for the pathways selected above  
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2 Kegg Pathways  (Kegg details for AMHR2):
 hsa04060 Cytokine-cytokine receptor interaction
 hsa04350 TGF-beta signaling pathway

   GeneDecks  AMHR2 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  AMHR2 


5/26 Interacting proteins for AMHR2 (ENSP000002578633) via UniProtKB, MINT, and/or STRING (see all 26 )
InteractantInteraction Details
GeneCardExternal ID(s)
AMHENSP000002214963STRING (score=.996)
NR5A1ENSP000003626903STRING (score=.951)
BMPR1BENSP000002645683STRING (score=.936)
CTNNB1ENSP000003444563STRING (score=.915)
BMP2ENSP000003681043STRING (score=.903)
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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001880 Mullerian duct regression NAS14750901
GO:0006468 protein amino acid phosphorylation IEA--
GO:0007165 signal transduction IMP7493017
GO:0007179 transforming growth factor beta receptor signaling pathway IEA--
GO:0007530 sex determination IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for AMHR2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AMHR2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (AMHR2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020547

              Sigma-Aldrich siRNA and siRNA Panels for AMHR2  
                     Sigma-Aldrich shRNA Panels and shRNA for AMHR2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_020547  

REFSEQ mRNAs for AMHR2 gene: 

NM_020547.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_020547  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020547
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020547
                                 untagged cDNA clone in CMV expression vector: NM_020547 

Additional cDNA sequence: 

AF172932.1 AK313593.1 AY714878.1 BC126316.1 BC136356.1 CR627318.1 

4 DOTS entries:

DT.107029  DT.95226426  DT.87046621  DT.121155771 

19 AceView cDNA sequences:

BX279985 NM_020547 AW293907 AW082199 AY714878 BE503494 CR627318 BE410788 
AF172932 BF970811 BQ712311 BE409048 AJ572328 AI339400 BM008020 AA459833 
BF434713 N87881 AA460023 

highest scoring ESTs for AMHR2:

U29700 AF172932 AI339400 AW082199 BE503494 BX279985 AA459833 AJ572328 AW293907 AY714878 

Unigene Cluster for AMHR2:

Anti-Mullerian hormone receptor, type II
Hs.659889  [show with all ESTs]
Unigene Representative Sequence: CR627318


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for AMHR2

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1:                          -     -                                                         
SP2:                                      -           -                                       
SP3:        -                                                                                 
SP4:                                      -                                                   

About this scheme

ECgene alternative splicing isoforms for AMHR2

2 Ensembl transcripts including schematic representations:
ENST00000379791  ENST00000257863  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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AMHR2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AMHR2

1 / 2 / 3

3 probe-sets matching AMHR2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
35502_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U29700 0.20 1.00 0.72 1

206892_at2, 3 U133-A 1 1.00 1.00 -- -- NM_020547 0.40 0.67 0.55 1

206892_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  AMHR2 for binary patterns associated with the probe-sets selected above  
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CCAACATAAA

SOURCE GeneReport for Unigene cluster: Hs.659889

Expression variation in blood from EXPOLDB for AMHR2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for AMHR2 gene from 4 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
AMHR21   -- anti-Mullerian hormone receptor, type II 89.2(n)
86.41(a)
486506  XM_543632.2  XP_543632.2 
chimpanzee
(Pan troglodytes)
AMHR21   -- anti-Mullerian hormone receptor, type II 99.65(n)
99.65(a)
467005  XM_522405.2  XP_522405.2 
rat
(Rattus norvegicus)
Amhr21   -- anti-Mullerian hormone receptor, type II 82.35(n)
79.53(a)
29530  NM_030998.1  NP_112260.1 
mouse
(Mus musculus)
Amhr21, 5 15 (57.40 cM)5
anti-Mullerian hormone type 2 receptor1, 5 83.18(n)1
80.43(a)1
1105421  NM_144547.11  NP_653130.11 
 AA6477185  AF5038635  (see all 7)
About this table        Species with no ortholog for AMHR2

ENSEMBL Gene Tree for AMHR2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for AMHR2 gene
BMPR22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/64 NCBI SNPs in AMHR2 are shown (see all 64 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 32)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 12 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs108764551,2
A,C,F,H52111592(+) TTGTCT/CGCCTC 1 -- ng318Minor allele frequency- C:0.47NA EU EA 622
rs20025551,2
C,F,H52103504(-) GCAACT/CGCTTG 1 -- ng5115Minor allele frequency- C:0.28EU EA WA NA 1340
--
rs26835231,2
A,C52102089(-) gccacC/Tgcgcc 1 -- ng510--------
--
rs79703681,2
C52102241(+) tgtagG/Tcccag 1 -- ng510--------
rs122281171,2
H52103462(+) ACAAGG/TTAACC 1 -- ng514Minor allele frequency- T:0.00EU EA WA 420
rs7848901,2
C,F,H,O52109574(-) GCACAC/TGATCC 1 S/S syn1 ese38Minor allele frequency- T:0.15EU EA WA NA 624
rs20715581,2
A,C,F,H,O52105734(+) GTCCCC/TAGCAG 1 -- int112Minor allele frequency- T:0.21EA NA EU WA 2414
rs22720021,2
A,C,F,H,O52104183(-) ACCTGA/TGCCCT 1 -- int18Minor allele frequency- T:0.08EA NA EU WA 2040
rs7848931,2
A,C,F,H52104554(-) CACCCT/CAGCCA 1 -- int14Minor allele frequency- C:0.14EU EA WA 412
rs7848881,2
A,C,F,H52110775(-) TAGAAC/GTGCCT 1 -- int18Minor allele frequency- G:0.11EU EA WA 838
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HapMap Linkage Disequilibrium images for AMHR2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 600956   disorders: 261550  

UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671

  • Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS-2)
    [MIM:261550]. PMDS-2 is a form of male pseudohermaphroditism characterized by a failure of
    Muellerian duct regression in otherwise normal males
  • 6 Novoseek disease relationships for AMHR2 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital absence 55.38 1 11223848 (1)
    ovarian cancer 41.65 1 17088539 (1)
    cervical cancer 18.16 2 14671316 (2)
    prostate cancer 13.20 1 11773638 (1)
    breast cancer 0.00 1 10874041 (1)
    tumors 0.00 3 8889695 (1), 14656474 (1), 15728372 (1)
    About this table

    Genatlas disease: AMHR2
    persistent Mullerian duct syndrome

    Human Gene Mutation Database: AMHR2
    Genetic Association Database: AMHR2
    Human Genome Epidemiology Navigator: AMHR2 (5 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/51 PubMed articles for AMHR2 gene (see all 51 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 269 HGNC: 465 AceView: AMHR2 Ensembl:ENSG00000135409 euGenes: HUgn269
    ECgene: AMHR2 H-InvDB: AMHR2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for AMHR2 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AMHR2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     "Your Favorite Gene" Pathwaysfeedback


      
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     Tagged/untagged cDNA clones
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     Purified proteins from HEK293T cells
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     Search Tocris compounds for AMHR2




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for AMHR2

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