Gene:
MC4R
melanocortin 4 receptor

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for MC4R

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs11872992 NC_000018.10:g.60373354G>A, NC_000018.9:g.58040587G>A, NG_016441.1:g.4415C>T, NM_005912.2:c.-1005C>T, rs60275201
G > A
SNP
No VIP available CA VA
rs17782313 NC_000018.10:g.60183864T>C, NC_000018.9:g.57851097T>C, rs59090733, rs59781239
T > C
SNP
No VIP available CA VA
rs489693 NC_000018.10:g.60215554C>A, NC_000018.9:g.57882787C>A, rs1673474
C > A
SNP
No VIP available No Clinical Annotations available VA
rs8087522 NC_000018.10:g.60373245G>A, NC_000018.9:g.58040478G>A, NG_016441.1:g.4524C>T, NM_005912.2:c.-896C>T
G > A
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA30676

Details

Cytogenetic Location: chr18 : q21.32 - q21.32
GP mRNA Boundary: chr18 : 58038564 - 58040001
GP Gene Boundary: chr18 : 58035564 - 58050001
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Syndecan-3-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
antipsychotics

Curated Information ?

Publications related to MC4R: 22

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research. Frontiers in genetics. 2015. Ritchie Marylyn D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Discussing the putative role of obesity-associated genes in the etiopathogenesis of eating disorders. Pharmacogenomics. 2015. Gervasini Guillermo, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Metabolic side effects and pharmacogenetics of second-generation antipsychotics in children. Pharmacogenomics. 2015. Devlin Angela M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pleiotropic genes for metabolic syndrome and inflammation. Molecular genetics and metabolism. 2014. Kraja Aldi T, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Towards the clinical implementation of pharmacogenetics in bipolar disorder. BMC medicine. 2014. Salloum Naji C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Fine Mapping and Identification of BMI Loci in African Americans. American journal of human genetics. 2013. Gong Jian, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MC4R rs489693: a clinical risk factor for second generation antipsychotic-related weight gain?. The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP). 2013. Czerwensky Fabian, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of the FTO obesity risk variant rs8050136 with percentage of energy intake from fat in multiple racial/ethnic populations: the PAGE study. American journal of epidemiology. 2013. Park Sungshim Lani, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Association of the common MC4R rs17782313 polymorphism with antipsychotic-related weight gain. Journal of clinical psychopharmacology. 2013. Czerwensky Fabian, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Moderation of antipsychotic-induced weight gain by energy balance gene variants in the RUPP autism network risperidone studies. Translational psychiatry. 2013. Nurmi E L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain. Archives of general psychiatry. 2012. Malhotra Anil K, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene. The pharmacogenomics journal. 2012. Chowdhury N I, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo. The pharmacogenomics journal. 2011. Bolze F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A supersized list of obesity genes. Nature genetics. 2009. Hofker Marten, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nature genetics. 2009. Meyre David, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nature genetics. 2009. Thorleifsson Gudmar, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature genetics. 2009. Willer Cristen J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. Nature genetics. 2008. Chambers John C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals. International journal of obesity (2005). 2007. Young E H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Human molecular genetics. 2007. Stutzmann Fanny, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. Diabetes. 2004. Ma Lijun, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. The Journal of clinical investigation. 2004. Srinivasan Supriya, et al. PubMed

LinkOuts

NCBI Gene:
4160
OMIM:
155541
601665
UCSC Genome Browser:
NM_005912
RefSeq RNA:
NM_005912
RefSeq Protein:
NP_005903
RefSeq DNA:
NG_016441
NT_025028
UniProtKB:
MC4R_HUMAN (P32245)
Ensembl:
ENSG00000166603
GenAtlas:
MC4R
GeneCard:
MC4R
MutDB:
MC4R
ALFRED:
LO073956E
HuGE:
MC4R
Comparative Toxicogenomics Database:
4160
ModBase:
P32245
HumanCyc Gene:
HS09427
IUPHAR Receptor:
MC4 (285)
HGNC:
6932

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