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AMHR2 (anti-Mullerian hormone receptor type 2)

Identity

Alias_namesanti-Mullerian hormone receptor type II
Alias_symbol (synonym)MISR2
MISRII
Other aliasAMHR
MRII
HGNC (Hugo) AMHR2
LocusID (NCBI) 269
Atlas_Id 629
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 53423855 and ends at 53431672 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AMHR2   465
Cards
Entrez_Gene (NCBI)AMHR2  269  anti-Mullerian hormone receptor type 2
AliasesAMHR; MISR2; MISRII; MRII
GeneCards (Weizmann)AMHR2
Ensembl hg19 (Hinxton)ENSG00000135409 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135409 [Gene_View]  ENSG00000135409 [Sequence]  chr12:53423855-53431672 [Contig_View]  AMHR2 [Vega]
ICGC DataPortalENSG00000135409
TCGA cBioPortalAMHR2
AceView (NCBI)AMHR2
Genatlas (Paris)AMHR2
WikiGenes269
SOURCE (Princeton)AMHR2
Genetics Home Reference (NIH)AMHR2
Genomic and cartography
GoldenPath hg38 (UCSC)AMHR2  -     chr12:53423855-53431672 +  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AMHR2  -     12q13.13   [Description]    (hg19-Feb_2009)
EnsemblAMHR2 - 12q13.13 [CytoView hg19]  AMHR2 - 12q13.13 [CytoView hg38]
Mapping of homologs : NCBIAMHR2 [Mapview hg19]  AMHR2 [Mapview hg38]
OMIM261550   600956   
Gene and transcription
Genbank (Entrez)AF172932 AJ572328 AK313593 AY714878 BC126316
RefSeq transcript (Entrez)NM_001164690 NM_001164691 NM_020547
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AMHR2
Cluster EST : UnigeneHs.659889 [ NCBI ]
CGAP (NCI)Hs.659889
Alternative Splicing GalleryENSG00000135409
Gene ExpressionAMHR2 [ NCBI-GEO ]   AMHR2 [ EBI - ARRAY_EXPRESS ]   AMHR2 [ SEEK ]   AMHR2 [ MEM ]
Gene Expression Viewer (FireBrowse)AMHR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)269
GTEX Portal (Tissue expression)AMHR2
Human Protein AtlasENSG00000135409-AMHR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16671   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16671  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16671
Splice isoforms : SwissVarQ16671
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   
PhosPhoSitePlusQ16671
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)Activin_recp    Anti-muellerian_hrmn_rcpt_II    Kinase-like_dom_sf    Prot_kinase_dom    TGFB_receptor   
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam01064    pfam00069   
Conserved Domain (NCBI)AMHR2
DMDM Disease mutations269
Blocks (Seattle)AMHR2
SuperfamilyQ16671
Human Protein Atlas [tissue]ENSG00000135409-AMHR2 [tissue]
Peptide AtlasQ16671
HPRD02978
IPIIPI00003446   IPI00944502   IPI00470548   
Protein Interaction databases
DIP (DOE-UCLA)Q16671
IntAct (EBI)Q16671
FunCoupENSG00000135409
BioGRIDAMHR2
STRING (EMBL)AMHR2
ZODIACAMHR2
Ontologies - Pathways
QuickGOQ16671
Ontology : AmiGOMullerian duct regression  transforming growth factor beta-activated receptor activity  transforming growth factor beta receptor activity, type II  protein binding  ATP binding  plasma membrane  integral component of plasma membrane  protein phosphorylation  transforming growth factor beta receptor signaling pathway  pattern specification process  sex differentiation  sex differentiation  sex differentiation  male gonad development  female gonad development  growth factor binding  BMP signaling pathway  hormone binding  receptor complex  SMAD binding  metal ion binding  anti-Mullerian hormone signaling pathway  anti-Mullerian hormone receptor activity  anti-Mullerian hormone receptor activity  
Ontology : EGO-EBIMullerian duct regression  transforming growth factor beta-activated receptor activity  transforming growth factor beta receptor activity, type II  protein binding  ATP binding  plasma membrane  integral component of plasma membrane  protein phosphorylation  transforming growth factor beta receptor signaling pathway  pattern specification process  sex differentiation  sex differentiation  sex differentiation  male gonad development  female gonad development  growth factor binding  BMP signaling pathway  hormone binding  receptor complex  SMAD binding  metal ion binding  anti-Mullerian hormone signaling pathway  anti-Mullerian hormone receptor activity  anti-Mullerian hormone receptor activity  
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway   
NDEx NetworkAMHR2
Atlas of Cancer Signalling NetworkAMHR2
Wikipedia pathwaysAMHR2
Orthology - Evolution
OrthoDB269
GeneTree (enSembl)ENSG00000135409
Phylogenetic Trees/Animal Genes : TreeFamAMHR2
HOVERGENQ16671
HOGENOMQ16671
Homologs : HomoloGeneAMHR2
Homology/Alignments : Family Browser (UCSC)AMHR2
Gene fusions - Rearrangements
Fusion : QuiverAMHR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMHR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMHR2
dbVarAMHR2
ClinVarAMHR2
1000_GenomesAMHR2 
Exome Variant ServerAMHR2
ExAC (Exome Aggregation Consortium)ENSG00000135409
GNOMAD BrowserENSG00000135409
Varsome BrowserAMHR2
Genetic variants : HAPMAP269
Genomic Variants (DGV)AMHR2 [DGVbeta]
DECIPHERAMHR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAMHR2 
Mutations
ICGC Data PortalAMHR2 
TCGA Data PortalAMHR2 
Broad Tumor PortalAMHR2
OASIS PortalAMHR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMHR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAMHR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AMHR2
DgiDB (Drug Gene Interaction Database)AMHR2
DoCM (Curated mutations)AMHR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMHR2 (select a term)
intoGenAMHR2
Cancer3DAMHR2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261550    600956   
Orphanet1553   
DisGeNETAMHR2
MedgenAMHR2
Genetic Testing Registry AMHR2
NextProtQ16671 [Medical]
TSGene269
GENETestsAMHR2
Target ValidationAMHR2
Huge Navigator AMHR2 [HugePedia]
snp3D : Map Gene to Disease269
BioCentury BCIQAMHR2
ClinGenAMHR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD269
Chemical/Pharm GKB GenePA24770
Clinical trialAMHR2
Miscellaneous
canSAR (ICR)AMHR2 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMHR2
EVEXAMHR2
GoPubMedAMHR2
iHOPAMHR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 10:50:58 CET 2018

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