MC2R Gene
protein-coding GIFtS: 64
GCID: GC18M013874
|
|
melanocortin 2 receptor (adrenocorticotropic hormone)
| |
Aliases
for MC2R gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Melanocortin 2 Receptor (Adrenocorticotropic Hormone)1 2 | | Corticotropin Receptor2 | | ACTHR1 2 3 | | MC2 Receptor2 | | Adrenocorticotropin Receptor2 3 | | ACTH-R3 | | ACTH Receptor2 3 | | MC2-R3 | | Adrenocorticotropic Hormone Receptor2 | | Melanocortin Receptor 23 |
Export aliases for MC2R gene to outside databasesPrevious GC identifer: GC18M013963 |
Summaries
for MC2R gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene 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 receptorsrecognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718Function: Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase
 summary
for MC2R: Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and
gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). Endogenous antagonists
include agouti and agouti-related protein (AgRP). The melanocortin receptors are G-protein-coupled and 5
subtypes exist, MC1-5. The melanocortins are involved in a wide range of physiological functions, including
pigmentation, energy homeostasis, inflammation, immunomodulation, steroidogenesis and temperature control.
Gene Wiki entry for MC2R (ACTH receptor)
|
Genomic Views
for MC2R gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000018.9 NC_018929.1 NT_010859.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MC2R gene promoter:
AP-1 Nkx2-2 ATF-2 CREB Max deltaCREB c-Jun Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for MC2R
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MC2R |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
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 information about chromosome 18 GeneLoc Exon Structure GeneLoc location for GC18M013874: view genomic region
(about GC identifiers)
Start:
|
13,882,043 bp from pter |
End:
|
13,915,706 bp from pter |
Size:
|
33,664 bases |
Orientation:
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minus strand |
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Proteins
for MC2R gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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: A8K016 Q3MI45 Q504X6Explore the universe of human proteins at neXtProt for MC2R: NX_Q01718
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q01718
MC2R Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000520.1
ENSEMBL proteins: ENSP00000333821 ENSP00000382718 Reactome Protein details: Q01718
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
MC2R for ontologies About GeneDecksing
MC2R Antibody Products:
Assay Products for MC2R: |
Protein
Domains /
Families
for MC2R gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MC2R for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q01718ProtoNet 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 |
Function
for MC2R gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718Function: Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase Genatlas biochemistry entry for MC2R:melanocortin receptor 2,expressed in melanocytes adrenal cortex,G protein coupled receptor superfamily,with a loss ofheterozygosity (LOH) in adrenocortical carcinoma
Clone
Products: |  | EMD Millipore Clones for the Expression of MC2R | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MC2R (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MC2R
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MC2R (NM_000529) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MC2R | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MC2R |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC2R |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
MC2R for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for MC2R:
Animal Models:
Mouse knock-out Mc2rtm1Dchi for MC2R
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mc2r):
MC2R for phenotypes About GeneDecksing
|
Pathways & Interactions
for MC2R gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Class A/1 (Rhodopsin-like receptors) | | | 2 | Signaling by GPCR | | | 3 | Adenylate cyclase-activating neuropeptides | | | 4 | Selected targets of CREB1 | | | 5 | Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for MC2R
2  BioSystems Pathways for MC2R
5/7 
Reactome Pathways for MC2R (see all 7)
1 
Kegg Pathway (Kegg details for MC2R):
MC2R for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MC2R
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/69 Interacting proteins for MC2R (Q017183 ENSP000003338214) via UniProtKB, MINT, STRING, and/or I2D (see all 69)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007186 | G-protein coupled receptor signaling pathway |
TAS | 1325670 | | GO:0007187 | G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger |
TAS | 9175632 | | GO:0030819 | positive regulation of cAMP biosynthetic process |
IDA | 19329486 |
MC2R for ontologies About GeneDecksing
|
Drugs & Compounds
for MC2R gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MC2R for compounds About GeneDecksing
Compounds for MC2R available from Tocris Bioscience About this table
2 DrugBank Compounds for MC2R About this table
10/24 Novoseek chemical compound relationships for MC2R gene (see all 24) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acth |
93.4 |
619 |
8550775 (13), 11420487 (7), 14671214 (7), 9167964 (7) (see all 99) |
| acth 1-24 |
75.5 |
10 |
8550775 (5), 9196605 (1), 9141522 (1), 18492762 (1) (see all 5) |
| cpas |
68.1 |
4 |
9582497 (2) |
| aminoglutethimide |
60.7 |
17 |
9795339 (7), 11281374 (2) |
| 3beta-hydroxysteroid |
56.5 |
4 |
11241179 (1), 7895901 (1) |
| adenylate |
53.9 |
12 |
2154973 (1), 8697804 (1), 10424898 (1), 1320052 (1) (see all 10) |
| forskolin |
51.8 |
12 |
8961279 (4), 8550775 (2), 17712720 (1), 9141522 (1) (see all 5) |
| steroid |
51.1 |
8 |
10720064 (2), 15919738 (1), 18493136 (1), 9795339 (1) (see all 5) |
| metyrapone |
46.3 |
1 |
9795339 (1) |
| ribonucleic acid |
41.8 |
6 |
9284742 (1), 15004405 (1), 9141522 (1), 10720064 (1) |
Search CenterWatch for drugs/clinical trials and news about MC2R / ACTHR
|
Transcripts
for MC2R gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MC2R gene: NM_000529.2 Unigene Cluster for MC2R: Melanocortin 2 receptor (adrenocorticotropic hormone) Hs.248144 [show with all ESTs]Unigene Representative Sequence: NM_0005292 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000327606(uc002ksp.1) ENST00000399821(uc021uhs.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MC2R (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MC2R
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MC2R (NM_000529) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MC2R | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MC2R |
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: NM_000529 BC069074 CF147776 Y10259
GeneLoc Exon Structure
|
Expression
for MC2R gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MC2R expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACTGTTGT
About this image
See MC2R Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MC2R
SOURCE GeneReport for Unigene cluster: Hs.248144
UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718Tissue specificity: Melanocytes and corticoadrenal tissue
SABiosciences Expression via Pathway-Focused PCR Arrays including MC2R:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MC2R
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MC2R | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MC2R | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MC2R | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC2R |
Orthologs
for MC2R gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for MC2R gene from 3/11 species (see all 11) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
MC2R1 |
melanocortin 2 receptor (adrenocorticotropic hormone) |
67.92(n)
70.21(a) |
|
428516 NM_001031515.1 NP_001026686.1 |
lizard
(Anolis carolinensis) |
Reptilia |
MC2R6 |
-- |
59(a) |
1 ↔ 1 |
4(43439047-43440787) |
zebrafish
(Danio rerio) |
Actinopterygii |
mc2r1 |
melanocortin 2 receptor |
56.44(n)
50.9(a) |
|
353152 NM_180971.1 NP_851302.1 |
ENSEMBL Gene Tree for MC2R (if available)
TreeFam Gene Tree for MC2R (if available) |
Paralogs
for MC2R gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MC2R gene
- CNR12 GPR122 ENSG000002675342 LPAR22 CNR22 S1PR12 S1PR32 MC1R2
- LPAR12 MC3R2 MC5R2 GPR32 MC4R2 S1PR42 GPR62 LPAR32
- S1PR52
4 SIMAP similar genes for MC2R using alignment to 1 protein entry: ACTHR_HUMAN:MC3R MC5R MC4R MC1R
MC2R for paralogs About GeneDecksing
|
Genomic Variants
for MC2R gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 18 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MC2R (13882043 - 13915706 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MC2R
2 Indels: 45628 45627
Human Gene Mutation Database (HGMD): MC2R
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MC2R |
|
Disorders
/ Diseases
for MC2R gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MC2R for disorders About GeneDecksing
OMIM gene information: 607397
OMIM 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 familialglucocorticoid deficiency type 1 (FGD1). GCCD1 is an autosomal recessive disorder due to congenital insensitivity orresistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, withoutmineralocorticoid deficiency
20/39  diseases for MC2R (see all 39): About MalaCardsglucocorticoid deficiency glucocorticoid deficiency, due to acth unresponsiveness familial glucocorticoid deficiency manic-depressive illness
21-hydroxylase deficiency triple-a syndrome adrenal hyperplasia tumors of adrenal cortex
major depressive disorder adrenal adenoma congestive heart failure alopecia areata
somatoform disorder adrenal hypoplasia pituitary adenoma addison's disease
cushing's syndrome adrenocortical hyperplasia morbid obesity adenoma
2 diseases from the University of Copenhagen DISEASES database for MC2R:Autosomal recessive disease Achalasia 10/20 Novoseek disease relationships for MC2R gene (see all 20) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acth resistance |
96.5 |
15 |
18426811 (2), 17161331 (1), 18407210 (1), 17128564 (1) (see all 10) |
| allgrove syndrome |
86.1 |
6 |
18426811 (1), 1850671 (1), 18407210 (1), 11701718 (1) |
| adrenocortical cancer |
80.7 |
3 |
7883845 (1) |
| carcinoma adrenocortical |
78.1 |
7 |
15879363 (1), 9582497 (1), 8187950 (1), 9795339 (1) (see all 5) |
| adrenal tumor |
73.3 |
9 |
9167964 (2), 9284742 (1), 12727943 (1), 11248736 (1) (see all 6) |
| adrenal adenoma |
71.5 |
1 |
15879363 (1) |
| cushing syndrome |
71.1 |
6 |
11420487 (2), 12456795 (1) |
| adenoma adrenocortical |
70.8 |
4 |
11420487 (1), 10216530 (1), 11004727 (1) |
| adenoma |
60.4 |
25 |
11420487 (7), 9582497 (2), 9888585 (2), 14671214 (2) (see all 11) |
| adrenal disease |
58.4 |
2 |
9167964 (2) |
Genatlas disease: MC2R Addison disease with ACTH resistant adrenal insufficiency and glucocorticoid deficiency,characterized by failure tothrive,weakness and fatigue or adrenal crisis
Genetic Association Database (GAD): MC2R
Human Genome Epidemiology (HuGE) Navigator: MC2R (17 documents)
Export disorders for MC2R gene to outside databases
|
Publications
for MC2R gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MC2R gene, integrated from 9 sources (see all 247):
(articles sorted by number of sources associating them with MC2R) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. (PubMed id 8227361)1, 2, 4 Tsigos C.... Chrousos G.P. (1993)
- Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. (PubMed id 17223989)1, 7, 9 Lin L....Achermann J.C. (2007)
- Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. (PubMed id 12213892)1, 2, 9 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, 2, 9 Metherell L.A.... Clark A.J.L. (2005)
- Characterization of an adrenocorticotropin (ACTH) receptor promoter polymorphism leading to decreased adrenal responsiveness to ACTH. (PubMed id 15240582)1, 4, 9 Slawik M....Beuschlein F. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 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)1, 2 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)1, 2 Naville D.... Begeot M. (1996)
- Molecular cloning of a novel melanocortin receptor. (PubMed id 8463333)1, 2 Gantz I.... Yamada T. (1993)
- Cloning and functional characterization of a family of receptors for the melanotropic peptides. (PubMed id 8390157)1, 3 Cone R.D....Mortrud M.T. (1993)
|
External Searches for MC2R gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MC2R gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MC2R gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MC2R gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MC2R | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MC2R |
|
| | |
About This Section
| Patent Information for MC2R gene:
Search GeneIP for patents involving MC2R
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MC2R gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for MC2R | | OriGene shRNA RFP for MC2R | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MC2R | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MC2R | | | OriGene Protein Over-expression Lysate for MC2R | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MC2R | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MC2R | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MC2R | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for MC2R | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MC2R | | OriGene Custom Protein Services for MC2R | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MC2R | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MC2R | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MC2R | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MC2R | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MC2R | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MC2R |
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| | | | Tocris compounds for MC2R |
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 | | | MC2R Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC2R |
|  |  |  | | | | ThermoFisher Antibody for MC2R |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MC2R |
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