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Aliases & Descriptions for AMHR2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for AMHR2 genePrevious GC identifers: GC12P053823 GC12P053925 GC12P053534 |
Summaries for AMHR2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: AMHR2_HUMAN, Q16671Function: 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 |
Genomic Location for AMHR2
(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) About This Section
| 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: 12q13AMHR2 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
| Proteins for AMHR2
(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)
About This Section
| 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 Q13762REFSEQ proteins: NP_065434.1
ENSEMBL proteins: ENSP00000369117 ENSP00000257863
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: AMHR2 
2 Gene Ontology (GO) cellular component terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005887 | integral to plasma membrane |
IEA | -- | | GO:0016020 | membrane |
IEA | -- | About this table
Antibodies for AMHR2: Assays for AMHR2: | Protein
Domains/ Families for AMHR2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q16671Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamilySimilarity: Contains 1 protein kinase domain | Gene Function for AMHR2
(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.)
About This Section
|               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 
              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, Q16671Function: 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 hormoneCatalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphateEnzyme Number (IUBMB): EC 2.7.11.30 Genatlas biochemistry entry for AMHR2:anti-Mullerian hormone receptor TGF,beta superfamily6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Amhr2):
5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11
): | GO ID | Qualified GO term | Evidence | PubMed 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 |
IMP | 7493017 | About this table | Pathways & Interactions for AMHR2
(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.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for AMHR2 (Your Favorite Gene powered by Ingenuity) 
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
)About this table
5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
): About this table
|
Drugs & Compounds for AMHR2(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)
About This Section
|
Browse Tocris compounds for AMHR2
|
Transcripts 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
|               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
|
Expression for AMHR2
(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
)
About This Section
| 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 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 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
About this table Species with no ortholog for AMHR2
ENSEMBL Gene Tree for AMHR2 | Paralogs for AMHR2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for AMHR2 gene
- BMPR22
|
SNPs/Variants for AMHR2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AMHR2 (up to first 250kb)
|
Disorders & Mutations for AMHR2
(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.)
About This Section
|
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 males6 Novoseek disease relationships for AMHR2 gene
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)
|
Medical News for AMHR2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AMHR2 (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
):- Insensitivity to anti-Muellerian hormone due to a mutation in the human anti-Muellerian hormone receptor. (PubMed id 7493017)2, 3, 4 Imbeaud S.... Picard J.-Y. (1995)
- Human ovarian cancer, cell lines, and primary ascites cells express the human Muellerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS. (PubMed id 10589763)1, 3, 4 Masiakos P.T.... Donahoe P.K. (1999)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Mutational analysis of the mullerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure. (PubMed id 12477536)3, 6 Wang H.Q....Noda Y. (2002)
- Autosomal recessive segregation of a truncating mutation of anti- Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro. (PubMed id 11549681)3, 4 Messika-Zeitoun L.... di Clemente N. (2001)
- A 27 base-pair deletion of the anti-Muellerian type II receptor gene is the most common cause of the persistent Muellerian duct syndrome. (PubMed id 8872466)3, 4 Imbeaud S.... Picard J.-Y. (1996)
- Structure and chromosomal localization of the human anti-Muellerian hormone type II receptor gene. (PubMed id 7488027)3, 4 Visser J.A.... Themmen A.P.N. (1995)
- A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity. (PubMed id 17636279)1, 3 Kevenaar M.E....Visser J.A. (2007)
- Anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women. (PubMed id 17337470)1, 3 Kevenaar M.E....Visser J.A. (2007)
- Anti-Mullerian hormone, its receptor, FSH receptor, and androgen receptor genes are overexpressed by granulosa cells from stimulated follicles in women with polycystic ovary syndrome. (PubMed id 18697861)1, 3 Catteau-Jonard S....di Clemente N. (2008)
|
Search for AMHR2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AMHR2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AMHR2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AMHR2(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
|
| About This Section
| --
| Services for AMHR2(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:

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| Antibodies & Assays for AMHR2  (MIS-R2) |
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Incremental update: 13 Oct 2009
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