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Validated All-in-One™ qPCR Primer for MC2R(NM_000529.2) Search again
Product ID:
HQP011094
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ACTHR
Gene Description:
melanocortin 2 receptor
Target Gene Accession:
NM_000529.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
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].
Gene References into function
- findings suggest a novel mechanism is involved in the constitutive activation of the melanocortin 2 receptor in which failure of desensitization appears to be associated with enhanced basal receptor activity
- Cyclic AMP-induced regulation of transcriptional activity of gene achieved through two SF1 binding elements in proximal promoter. Regulation by angiotensin II by two AP1 binding sites. Region in promoter responsible for tissue-specific gene expression.
- ACTH feedback loop in pituitary. Loss of expression of ACTH-R in corticotroph adenomas in Cushing's disease may play role in resistance to feedback of pituitary-adrenal axis.
- Study of two mutations in the same allele of MC2R associated with clinical hypersensitivity to ACTH shows that each alone produces an inactive receptor, but together lead to a receptor with a highly significant elevation in constitutive activity
- Data show that an E-box is involved in the repression of melanocortin 2 receptor gene expression in granulosa cells through interactions with several factors.
- We describe an ACTH receptor promoter polymorphism that results in lower promoter activity in vitro and is associated with lower cortisol secretion to prolonged ACTH stimulation in vivo. Might influence cortisol homeostasis under stress conditions.
- DAX-1 is a major repressor of ACTH-R gene expression in vitro and in vivo.
- Specific factors, missing in cells which do not express any melanocortin receptor, are involved in the correct addressing of human MC2R to the cell membrane.
- Genetic variations within ACTH receptor promoter result in decreased DHEA secretion. We might have identified one of the genetic factors responsible for variation in ACTH-dependent DHEA secretion.
- PKA and protein kinase C act synergistically to induce hMC2R desensitization, but only PKA is essential for receptor internalization
- MC2R mutations were found in patients diagnosed with salt-losing forms of adrenal hypoplasia; these changes represent severely disruptive loss-of-function mutations including the first reported homozygous frameshift mutation
- MC2R-green fluorescent protein fusion transfected with either MRAPalpha or MRAPbeta was impaired both in cell membrane localization and signaling.
- Testicular adrenal rest tumors produce adrenal-specific steroids and express adrenal-specific enzymes and ACTH and AII receptors, confirming the strong resemblance with adrenal tissue.
- Transcription factors of the CREB/CREM/ATF family have a moderate effect on human MC2-R promoter activity, but seem to play a minor role in transmitting stimulation of the cAMP pathway to increased MC2-R expression.
- Results indicate that ACTH1-16 is the minimal peptide required for hMC2R binding and signaling.
- Corticotrophin-releasing hormone induces ACTHR receptor as potently as ACTH during late gestation.
- results do not support an involvement of the -2 CTC to CCC ACTH receptor promoter polymorphism in somatoform disorders
- The MC2R promoter polymorphism modulates the hypothalamo-pituitary-adrenal axis in children and may play a role in altered regulation of adrenarche.
- Significant differences in genotype frequency among ethnic groups studied were found for each of the six variants analyzed. the allele -184A with a protective effect from heroin addiction in Hispanics.
- two mutations of the ACTH receptor (MC2R) gene are reported in this familial glucocorticoid deficiency clinical case.
- In cortices attached to adrenocortical adenomas, MC2R mRNA was expressed faintly in zona fasciculata and zona reticularis.
- The transmembrane domain of MRAP is the MC2R interaction domain and a conserved N-terminal tyrosine-rich domain of MRAP is required for trafficking MC2R to the cell surface.
- The majority of MC2R mutations found in familial glucocorticoid deficiency type 1 fail to function because they fail to traffic to the cell surface
- MRAP not only facilitates MC2 receptor trafficking but also allows properly localized receptor to bind ACTH and consequently signal.
- The polymorphisms of the MC2R promoter might be one important factor that influences the efficacy of ACTH therapy on infantile spasms.