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Aliases & Descriptions for MC2R
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ACTH-R 3 | | ACTHR 1, 2, 3 | | MC2-R 3 | | MGC125798 2 | | OTTHUMP00000162512 2 |
| | | Descriptions |
|---|
| ACTH receptor 2, 3 | | Adrenocorticotropin receptor 3 | | MC2 receptor 2 | | Melanocortin receptor 2 3 | | corticotropin receptor 2 | | melanocortin 2 receptor 2 | | melanocortin 2 receptor (adrenocorticotropic hormone) 2 |
|
| | Search outside databases for aliases for MC2R genePrevious GC identifer: GC18M013963 |
Summaries for MC2R(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for MC2R: MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. [provided by RefSeq] UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718Function: Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclaseGene Wiki entry for MC2R (ACTH_receptor) |
Genomic Location for MC2R
(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 MC2R gene 
Entrez Gene cytogenetic band: 18p11.2 Ensembl cytogenetic band: 18p11.21 HGNC cytogenetic band: 18p11.2MC2R 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 18 GeneLoc Exon Structure GeneLoc location for GC18M013874:
(about GC identifiers)
Start:
|
13,872,043 bp from pter |
End:
|
13,905,535 bp from pter |
Size:
|
33,493 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000018.8 NT_010859.14
| Proteins for MC2R
(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: ACTHR_HUMAN, Q01718 (See
protein sequence)Recommended Name: Adrenocorticotropic hormone receptor Size: 297 amino acids; 33927 Da
Subunit: Interacts with FALP/MRAP
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q3MI45 Q504X6Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000520.1
ENSEMBL proteins: ENSP00000382718 ENSP00000333821
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for MC2R: Assays for MC2R: | Protein
Domains/ Families for MC2R(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 Q01718
ProtoNet protein and cluster: Q01718 2 Blocks protein families: IPB001168 Adrenocorticotrophin receptor signature IPB001671 Melanocortin receptor family signature
UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718Similarity: Belongs to the G-protein coupled receptor 1 family | Gene Function for MC2R
(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_000529
Applied Biosystems Silencer® siRNAs for MC2R
Sigma-Aldrich siRNA and siRNA Panels for MC2R  Sigma-Aldrich shRNA Panels and shRNA for MC2R  Explore Sigma-Aldrich super-pooled esiRNAs 
| Clones: |  | Invitrogen Clones for MC2R | |  | Millipore Clones for the Expression of MC2R |               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000529                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000529                                  untagged cDNA clone in CMV expression vector: NM_000529 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000529
UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718Function: Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclaseGenatlas biochemistry entry for MC2R:melanocortin receptor 2,expressed in melanocytes adrenal cortex,G protein coupled receptor superfamily,with a loss of heterozygosity (LOH) in adrenocortical carcinoma8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Mc2r):
3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004872 | receptor activity |
IEA | -- | | GO:0004930 | G-protein coupled receptor activity |
IEA | -- | | GO:0004978 | adrenocorticotropin receptor activity |
TAS | 9175632 | About this table | Pathways & Interactions for MC2R
(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
|
Gene Network CentralTM Interacting Genes and Proteins Network for MC2R 
5/16 Interacting proteins for MC2R (ENSP000003338213) via UniProtKB, MINT, and/or STRING (see all 16
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007165 | signal transduction |
IEA | -- | | GO:0007187 | G-protein signaling, coupled to cyclic nucleotide second messenger |
TAS | 9175632 | About this table
|
Drugs & Compounds for MC2R(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
|
Compounds for MC2R available from Tocris Bioscience About this table
10/16 Novoseek chemical compound relationships for MC2R gene (see all 16
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acth |
93.16 |
572 |
8550775 (13), 11420487 (7), 14671214 (7), 9167964 (7) (see all 99) |
| cpas |
64.39 |
4 |
9582497 (2) |
| 3beta-hydroxysteroid |
57.83 |
4 |
11241179 (1), 7895901 (1) |
| steroid |
51.34 |
7 |
10720064 (2), 15919738 (1), 18493136 (1), 9795339 (1) |
| forskolin |
49.84 |
12 |
8961279 (4), 8550775 (2), 17712720 (1), 9141522 (1) (see all 5) |
| ribonucleic acid |
43.43 |
6 |
9284742 (1), 15004405 (1), 9141522 (1), 10720064 (1) |
| dhea |
40.66 |
3 |
16260430 (2) |
| androstenedione |
35.10 |
1 |
9196605 (1) |
| dehydroepiandrosterone sulfate |
34.28 |
4 |
9196605 (1), 7895901 (1) |
| cyclic amp |
27.69 |
8 |
16402925 (1), 17082810 (1), 1655650 (1), 12530627 (1) |
About this table
|
Transcripts for MC2R(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_000529
Sigma-Aldrich siRNA and siRNA Panels for MC2R  Sigma-Aldrich shRNA Panels and shRNA for MC2R  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000529 REFSEQ mRNAs for MC2R gene: NM_000529.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000529               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000529                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000529                                  untagged cDNA clone in CMV expression vector: NM_000529  Additional cDNA sequence: AK289381.1 AK315319.1 BC069074.1 BC094710.1 BC104169.1 BC104170.1 Y10259.1 1 DOTS entry: DT.91668476 4 AceView cDNA sequences:BC069074 NM_000529 CF147776 Y10259
highest scoring ESTs for MC2R:BC069074 BI830442 BX282244 CB985786 CF147776 NM_000529 BC094710 BP196054 DA014877 DA014945 Unigene Cluster for MC2R: Melanocortin 2 receptor (adrenocorticotropic hormone) Hs.248144 [show with all ESTs]Unigene Representative Sequence: NM_000529
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000399821
ENST00000327606
|
Expression for MC2R
(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
| MC2R expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for MC2R
1 / 2 / 3 5 probe-sets matching MC2R gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGACTGTTGT
SOURCE GeneReport for Unigene cluster: Hs.248144
Expression variation in blood from EXPOLDB for MC2R UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718Tissue specificity: Melanocytes and corticoadrenal tissue |
Orthologs for MC2R
(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 MC2R gene from 5/7 species (see all 7
)
About this table Species with no ortholog for MC2R
ENSEMBL Gene Tree for MC2R | Paralogs for MC2R(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for MC2R gene
- MC4R2 MC3R2 MC5R2
|
SNPs/Variants for MC2R(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 MC2R (up to first 250kb)
|
Disorders & Mutations for MC2R
(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: 607397 disorders: 202200 UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718
Defects in MC2R are the cause of glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]; also known as familial glucocorticoid deficiency type 1 (FGD1). GCCD1 is an autosomal recessive disorder due to congenital insensitivity or resistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, without mineralocorticoid deficiency10/19 Novoseek disease relationships for MC2R gene (see all 19
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acth resistance |
96.23 |
15 |
18426811 (2), 17161331 (1), 18407210 (1), 17128564 (1) (see all 10) |
| allgrove syndrome |
87.22 |
6 |
18426811 (1), 1850671 (1), 18407210 (1), 11701718 (1) |
| adrenocortical cancer |
80.14 |
3 |
7883845 (1) |
| carcinoma adrenocortical |
78.56 |
7 |
15879363 (1), 9582497 (1), 8187950 (1), 9795339 (1) (see all 5) |
| adrenal tumor |
74.63 |
9 |
9167964 (2), 9284742 (1), 12727943 (1), 11248736 (1) (see all 6) |
| adenoma adrenocortical |
72.10 |
4 |
11420487 (1), 10216530 (1), 11004727 (1) |
| cushing syndrome |
71.49 |
6 |
11420487 (2), 12456795 (1) |
| adrenal adenoma |
70.89 |
1 |
15879363 (1) |
| adrenal disease |
60.05 |
2 |
9167964 (2) |
| adenoma |
59.64 |
25 |
11420487 (7), 9582497 (2), 9888585 (2), 14671214 (2) (see all 11) |
About this table
Genatlas disease: MC2R Addison disease with ACTH resistant adrenal insufficiency and glucocorticoid deficiency,characterized by failure to thrive,weakness and fatigue or adrenal crisis Human Gene Mutation Database: MC2R Genetic Association Database: MC2R Human Genome Epidemiology Navigator: MC2R (9 documents)
|
Medical News for MC2R(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for MC2R (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
| 10/206 PubMed articles for MC2R gene (see all 206
):- Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. (PubMed id 8227361)3, 4, 6 Tsigos C.... Chrousos G.P. (1993)
- Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. (PubMed id 12213892)1, 3, 4 Fluck C.E.... Miller W.L. (2002)
- Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. (PubMed id 15654338)1, 3, 4 Metherell L.A....Clark A.J. (2005)
- Characterization of an adrenocorticotropin (ACTH) receptor promoter polymorphism leading to decreased adrenal responsiveness to ACTH. (PubMed id 15240582)1, 3, 6 Slawik M....Beuschlein F. (2004)
- Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. (PubMed id 8094489)1, 3, 4 Clark A.J.L.... Grossman A. (1993)
- 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)
- Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. (PubMed id 10971458)3, 4 Ishii T.... Matsuo N. (2000)
- Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. (PubMed id 8636348)3, 4 Naville D.... Begeot M. (1996)
- Molecular cloning of a novel melanocortin receptor. (PubMed id 8463333)3, 4 Gantz I.... Yamada T. (1993)
- Cloning and functional characterization of a family of receptors for the melanotropic peptides. (PubMed id 8390157)2, 3 Cone R.D....Mortrud M.T. (1993)
|
Search for MC2R
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MC2R
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing MC2R
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MC2R(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=MC2R |
|
| | | About This Section
| --
| Services for MC2R(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 MC2R:

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| | | | Tocris compounds for MC2R |
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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