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MC2R (melanocortin 2 receptor)

Identity

Alias_namesmelanocortin 2 receptor (adrenocorticotropic hormone)
Alias_symbol (synonym)ACTHR
Other alias
HGNC (Hugo) MC2R
LocusID (NCBI) 4158
Atlas_Id 49875
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 13882044 and ends at 13915536 bp from pter ( according to hg38-Dec_2013)

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)MC2R   6930
Cards
Entrez_Gene (NCBI)MC2R  4158  melanocortin 2 receptor
AliasesACTHR
GeneCards (Weizmann)MC2R
Ensembl hg19 (Hinxton)ENSG00000185231 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185231 [Gene_View]  chr18:13882044-13915536 [Contig_View]  MC2R [Vega]
ICGC DataPortalENSG00000185231
TCGA cBioPortalMC2R
AceView (NCBI)MC2R
Genatlas (Paris)MC2R
WikiGenes4158
SOURCE (Princeton)MC2R
Genetics Home Reference (NIH)MC2R
Genomic and cartography
GoldenPath hg38 (UCSC)MC2R  -     chr18:13882044-13915536 -  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MC2R  -     18p11.21   [Description]    (hg19-Feb_2009)
EnsemblMC2R - 18p11.21 [CytoView hg19]  MC2R - 18p11.21 [CytoView hg38]
Mapping of homologs : NCBIMC2R [Mapview hg19]  MC2R [Mapview hg38]
OMIM202200   607397   
Gene and transcription
Genbank (Entrez)AK289381 AK315319 BC069074 BC094710 BC104169
RefSeq transcript (Entrez)NM_000529 NM_001291911
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MC2R
Cluster EST : UnigeneHs.248144 [ NCBI ]
CGAP (NCI)Hs.248144
Alternative Splicing GalleryENSG00000185231
Gene ExpressionMC2R [ NCBI-GEO ]   MC2R [ EBI - ARRAY_EXPRESS ]   MC2R [ SEEK ]   MC2R [ MEM ]
Gene Expression Viewer (FireBrowse)MC2R [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4158
GTEX Portal (Tissue expression)MC2R
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01718   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01718  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01718
Splice isoforms : SwissVarQ01718
PhosPhoSitePlusQ01718
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)ACTH_rcpt    GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    Melcrt_ACTH_rcpt   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Domain families : Smart (EMBL)7TM_GPCR_Srsx (SM01381)  
Conserved Domain (NCBI)MC2R
DMDM Disease mutations4158
Blocks (Seattle)MC2R
SuperfamilyQ01718
Human Protein AtlasENSG00000185231
Peptide AtlasQ01718
HPRD06304
IPIIPI00009312   
Protein Interaction databases
DIP (DOE-UCLA)Q01718
IntAct (EBI)Q01718
FunCoupENSG00000185231
BioGRIDMC2R
STRING (EMBL)MC2R
ZODIACMC2R
Ontologies - Pathways
QuickGOQ01718
Ontology : AmiGOplacenta development  melanocortin receptor activity  corticotropin receptor activity  protein binding  cytoplasm  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  neuropeptide signaling pathway  positive regulation of cAMP biosynthetic process  
Ontology : EGO-EBIplacenta development  melanocortin receptor activity  corticotropin receptor activity  protein binding  cytoplasm  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  neuropeptide signaling pathway  positive regulation of cAMP biosynthetic process  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkMC2R
Atlas of Cancer Signalling NetworkMC2R
Wikipedia pathwaysMC2R
Orthology - Evolution
OrthoDB4158
GeneTree (enSembl)ENSG00000185231
Phylogenetic Trees/Animal Genes : TreeFamMC2R
HOVERGENQ01718
HOGENOMQ01718
Homologs : HomoloGeneMC2R
Homology/Alignments : Family Browser (UCSC)MC2R
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMC2R [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MC2R
dbVarMC2R
ClinVarMC2R
1000_GenomesMC2R 
Exome Variant ServerMC2R
ExAC (Exome Aggregation Consortium)MC2R (select the gene name)
Genetic variants : HAPMAP4158
Genomic Variants (DGV)MC2R [DGVbeta]
DECIPHERMC2R [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMC2R 
Mutations
ICGC Data PortalMC2R 
TCGA Data PortalMC2R 
Broad Tumor PortalMC2R
OASIS PortalMC2R [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMC2R  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMC2R
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
LOVD (Leiden Open Variation Database)LOVD - Munich Open Variation Database
BioMutasearch MC2R
DgiDB (Drug Gene Interaction Database)MC2R
DoCM (Curated mutations)MC2R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MC2R (select a term)
intoGenMC2R
Cancer3DMC2R(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM202200    607397   
Orphanet3506   
MedgenMC2R
Genetic Testing Registry MC2R
NextProtQ01718 [Medical]
TSGene4158
GENETestsMC2R
Target ValidationMC2R
Huge Navigator MC2R [HugePedia]
snp3D : Map Gene to Disease4158
BioCentury BCIQMC2R
ClinGenMC2R
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4158
Chemical/Pharm GKB GenePA30674
Clinical trialMC2R
Miscellaneous
canSAR (ICR)MC2R (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMC2R
EVEXMC2R
GoPubMedMC2R
iHOPMC2R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:42:31 CEST 2017

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