Gene: MC1R
Alternate names for this Gene: CMM5|MSH-R|SHEP2
Gene Summary: This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation.
Gene is located in Chromosome: 16
Location in Chromosome : 16q24.3
Description of this Gene: melanocortin 1 receptor
Type of Gene: protein-coding
rs1805007 in
MC1R gene and
Basal Cell Cancer
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
PMID 21700618 2011 Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.
rs1805007 in
MC1R gene and
Basal Cell Neoplasm
PMID 21700618 2011 Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
rs1805007 in
MC1R gene and
Basal cell carcinoma
PMID 21700618 2011 Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
rs1805007 in
MC1R gene and
Carcinoma, Basal Cell
PMID 21700618 2011 A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)].
rs1805007 in
MC1R gene and
Freckles
PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
rs1110400 in
MC1R gene and
Hair Color
PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
rs200050206 in
MC1R gene and
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
PMID 17434924 2007 MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.
PMID 19338054 2009 Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.
rs1805007 in
MC1R gene and
Melanosis
PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
rs373224783 in
MC1R gene and
Oculocutaneous albinism type 2
PMID 26197705 2015 Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
rs1110400 in
MC1R gene and
Skin Pigmentation
PMID 25963972 2015 Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
rs1805007 in
MC1R gene and
Skin carcinoma
PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
rs1805007 in
MC1R gene and
Squamous cell carcinoma
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs1805007 in
MC1R gene and
Squamous cell carcinoma of skin
PMID 27424798 2016 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.
rs1805007 in
MC1R gene and
Suntan
PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
rs1805007 in
MC1R gene and
melanoma
PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.