MC1R Gene (Protein Coding)

Melanocortin 1 Receptor

GC16P089912
GIFtS:
47
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... See more...

Aliases for MC1R Gene

Aliases for MC1R Gene

  • Melanocortin 1 Receptor 2 3 5
  • MSH-R 2 3 4
  • Alpha Melanocyte Stimulating Hormone Receptor 2 3
  • Melanocyte-Stimulating Hormone Receptor 3 4
  • MC1-R 3 4
  • Melanocortin 1 Receptor (Alpha Melanocyte Stimulating Hormone Receptor) 2
  • Melanocortin Receptor 1 4
  • Melanotropin Receptor 3
  • SHEP2 3
  • CMM5 3
  • MC1R 5
  • MSHR 4

External Ids for MC1R Gene

Previous GeneCards Identifiers for MC1R Gene

  • GC16P081304
  • GC16P090971
  • GC16P089685
  • GC16P089727
  • GC16P088513
  • GC16P089985
  • GC16P089982

Summaries for MC1R Gene

Entrez Gene Summary for MC1R Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MC1R Gene

MC1R (Melanocortin 1 Receptor) is a Protein Coding gene. Diseases associated with MC1R include Melanoma, Cutaneous Malignant 5 and Skin/Hair/Eye Pigmentation, Variation In, 2. Among its related pathways are Signaling by GPCR and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and hormone binding. An important paralog of this gene is MC4R.

UniProtKB/Swiss-Prot Summary for MC1R Gene

  • Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

Tocris Summary for MC1R Gene

  • Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.

Gene Wiki entry for MC1R Gene

Additional gene information for MC1R Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MC1R Gene

Genomics for MC1R Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MC1R Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MC1R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MC1R

Top Transcription factor binding sites by QIAGEN in the MC1R gene promoter:
  • CREB
  • HOXA9
  • HOXA9B
  • Meis-1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • ZIC2

Genomic Locations for MC1R Gene

Genomic Locations for MC1R Gene
chr16:89,912,119-89,920,977
(GRCh38/hg38)
Size:
8,859 bases
Orientation:
Plus strand
chr16:89,978,527-89,987,385
(GRCh37/hg19)
Size:
8,859 bases
Orientation:
Plus strand

Genomic View for MC1R Gene

Genes around MC1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MC1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MC1R Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MC1R Gene

Proteins for MC1R Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MC1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01726-MSHR_HUMAN
    Recommended name:
    Melanocyte-stimulating hormone receptor
    Protein Accession:
    Q01726
    Secondary Accessions:
    • Q66K38
    • Q6UR93
    • Q8WWX6
    • Q8WWX7
    • Q96I33
    • Q96RU4
    • Q9UBF7
    • Q9UN58
    • Q9UN59
    • Q9UN60
    • Q9UN61
    • Q9UN62

    Protein attributes for MC1R Gene

    Size:
    317 amino acids
    Molecular mass:
    34706 Da
    Quaternary structure:
    • Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production.

neXtProt entry for MC1R Gene

Protein Expression for MC1R Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MC1R Gene

  • Glycosylation at Asn29
  • Modification sites at PhosphoSitePlus

Other Protein References for MC1R Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MC1R Gene

Domains & Families for MC1R Gene

Gene Families for MC1R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for MC1R Gene

InterPro:
Blocks:
  • Melanocyte stimulating hormone receptor signature
  • Melanocortin receptor family signature
ProtoNet:

Suggested Antigen Peptide Sequences for MC1R Gene

GenScript: Design optimal peptide antigens:
  • Melanocortin receptor 1 (MSHR_HUMAN)
  • cDNA FLJ14170 fis, clone NT2RP2002105, highly similar to Melanocyte-stimulating hormone receptor (Q1JUL4_HUMAN)
  • Melanocortin 1 receptor (Q1JUL6_HUMAN)
  • Melanocortin 1 receptor (Q1JUL8_HUMAN)
  • Melanocortin 1 receptor (Q1JUL9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01726

UniProtKB/Swiss-Prot:

MSHR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MC1R: view

Function for MC1R Gene

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  2. CRISPR
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Molecular function for MC1R Gene

UniProtKB/Swiss-Prot Function:
Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.
GENATLAS Biochemistry:
melanocortin receptor 1,murine extension (Ext) homolog,expressed in cells of melanocytic origin and adrenal cortex,G protein coupled receptor superfamily,regulator of eumelanin and phaeomelanin production

Phenotypes From GWAS Catalog for MC1R Gene

Gene Ontology (GO) - Molecular Function for MC1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA,IBA 21873635
GO:0004977 melanocortin receptor activity TAS 9571181
GO:0004980 melanocyte-stimulating hormone receptor activity IPI 19743876
GO:0005515 protein binding IPI 19329486
GO:0008528 G protein-coupled peptide receptor activity TAS 18292087
genes like me logo Genes that share ontologies with MC1R: view
genes like me logo Genes that share phenotypes with MC1R: view

Human Phenotype Ontology for MC1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MC1R Gene

MGI Knock Outs for MC1R:
  • Mc1r Mc1r<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for MC1R

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MC1R

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MC1R Gene

Localization for MC1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for MC1R Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MC1R gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MC1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 9571181
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MC1R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MC1R Gene

Pathways & Interactions for MC1R Gene

genes like me logo Genes that share pathways with MC1R: view

Pathways by source for MC1R Gene

2 BioSystems pathways for MC1R Gene
1 Qiagen pathway for MC1R Gene
  • Melanocyte Development and Pigmentation

SIGNOR curated interactions for MC1R Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MC1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 9571181
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA 19329486
GO:0007275 multicellular organism development TAS 7581459
genes like me logo Genes that share ontologies with MC1R: view

Drugs & Compounds for MC1R Gene

Products:

  1. Drug

(34) Drugs for MC1R Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Afamelanotide Approved, Investigational Pharma Target, agonist 11
Bremelanotide Approved, Investigational Pharma Target, agonist 0
Desipramine Approved, Investigational Pharma 42
CZEN 002 Investigational Pharma Target 0
Melanotan II Pharma High affinity melanocortin receptor agonist 0

(14) Additional Compounds for MC1R Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NDP-MSH
Agonist, Full agonist
[Nle4,D-Phe7]-alpha-MSH
75921-69-6
Melanocyte-stimulating hormone release inhibiting factor
2002-44-0

(5) Tocris Compounds for MC1R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist 75921-69-6
alpha-MSH Endogenous melanocortin receptor agonist 581-05-5
Melanocyte-stimulating hormone release inhibiting factor Inhibitor of alpha-MSH release; inhibits opioid effects in vivo 2002-44-0
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
THIQ Potent and selective MC4 receptor agonist 312637-48-2

(8) ApexBio Compounds for MC1R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-α-MSH 75921-69-6
BMS 470539 dihydrochloride MC1 receptor,potent and selective 457893-92-4
HS 014 207678-81-7
HS 024 212370-59-7
MCL 0020 475498-26-1
Melanotan II 121062-08-6
THIQ 312637-48-2
α-MSH 581-05-5
genes like me logo Genes that share compounds with MC1R: view

Drug Products

Transcripts for MC1R Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MC1R Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MC1R

Alternative Splicing Database (ASD) splice patterns (SP) for MC1R Gene

No ASD Table

Relevant External Links for MC1R Gene

GeneLoc Exon Structure for
MC1R

Expression for MC1R Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MC1R Gene

mRNA expression in normal human tissues for MC1R Gene
mRNA expression by GTEx for MC1R GenemRNA expression by BioGPS for MC1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MC1R Gene

This gene is overexpressed in Brain (43.5), Lung (12.7), and Saliva (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MC1R Gene



Protein tissue co-expression partners for MC1R Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MC1R

SOURCE GeneReport for Unigene cluster for MC1R Gene:

Hs.513829

mRNA Expression by UniProt/SwissProt for MC1R Gene:

Q01726-MSHR_HUMAN
Tissue specificity: Melanocytes and corticoadrenal tissue.

Evidence on tissue expression from TISSUES for MC1R Gene

  • Skin(4.6)
  • Nervous system(2.6)
  • Adrenal gland(2.4)
  • Blood(2.4)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MC1R Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MC1R: view

No data available for mRNA differential expression in normal tissues for MC1R Gene

Orthologs for MC1R Gene

This gene was present in the common ancestor of chordates.

Orthologs for MC1R Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MC1R 30 31
  • 98.21 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MC1R 30
  • 84.65 (n)
MC1-R 31
  • 81 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MC1R 30
  • 83.91 (n)
Rat
(Rattus norvegicus)
 Mammalia Mc1r 30
  • 81.07 (n)
Mouse
(Mus musculus)
 Mammalia Mc1r 30 17 31
  • 79.68 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MC1R 31
  • 35 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MC1R 31
  • 27 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MC1R 30 31
  • 74.04 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mc1r 30
  • 58.9 (n)
Zebrafish
(Danio rerio)
 Actinopterygii mc1r 30 31
  • 63.46 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 17 (a)
 ManyToMany
-- 31
  • 15 (a)
 ManyToMany
Species where no ortholog for MC1R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MC1R Gene

ENSEMBL:
Gene Tree for MC1R (if available)
TreeFam:
Gene Tree for MC1R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MC1R: view image

Paralogs for MC1R Gene

Paralogs for MC1R Gene

(5) SIMAP similar genes for MC1R Gene using alignment to 42 proteins:

  • MSHR_HUMAN
  • G3V4F0_HUMAN
  • Q1JUL4_HUMAN
  • Q1JUL6_HUMAN
  • Q1JUL8_HUMAN
  • Q1JUL9_HUMAN
  • Q1JUM0_HUMAN
  • Q1JUM2_HUMAN
  • Q1JUM3_HUMAN
  • Q1JUM4_HUMAN
  • Q1JUM5_HUMAN
  • Q6UR92_HUMAN
  • Q6UR94_HUMAN
  • Q6UR95_HUMAN
  • Q6UR96_HUMAN
  • Q6UR97_HUMAN
  • Q6UR98_HUMAN
  • Q6UR99_HUMAN
  • Q6URA0_HUMAN
  • Q86YW1_HUMAN
  • V9Q5S2_HUMAN
  • V9Q671_HUMAN
  • V9Q783_HUMAN
  • V9Q7F1_HUMAN
  • V9Q8F1_HUMAN
  • V9Q8N1_HUMAN
  • V9Q977_HUMAN
  • V9Q9P5_HUMAN
  • V9Q9R8_HUMAN
  • V9QAE0_HUMAN
  • V9QAR2_HUMAN
  • V9QAW3_HUMAN
  • V9QB02_HUMAN
  • V9QB58_HUMAN
  • V9QBY6_HUMAN
  • V9QC17_HUMAN
  • V9QC66_HUMAN
  • V9QCQ4_HUMAN
  • V9QDF4_HUMAN
  • V9QDN7_HUMAN
  • V9QDP7_HUMAN
  • V9QDQ6_HUMAN
genes like me logo Genes that share paralogs with MC1R: view

Variants for MC1R Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for MC1R Gene

MSHR_HUMAN-Q01726
Genetic variants in MC1R define the skin/hair/eye pigmentation variation locus 2 (SHEP2) [MIM:266300]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator, with type I skin being the most lightly pigmented and type IV the most dark pigmented. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. Partial loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer risk.
MSHR_HUMAN-Q01726
MC1R variants associated with red hair and fair skin, determine female-specific increased analgesia from kappa-opioid receptor agonist [MIM:613098].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MC1R Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
642519 Uncertain Significance: Cutaneous malignant melanoma 5 89,920,072(+) A/ACGT INFRAME_INSERTION
645334 Uncertain Significance: Cutaneous malignant melanoma 5 89,919,740(+) C/T MISSENSE_VARIANT
645959 Uncertain Significance: Cutaneous malignant melanoma 5 89,919,762(+) C/G MISSENSE_VARIANT
648748 Uncertain Significance: Cutaneous malignant melanoma 5 89,919,674(+) C/G MISSENSE_VARIANT
651352 Uncertain Significance: Cutaneous malignant melanoma 5 89,919,451(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MC1R Gene

Structural Variations from Database of Genomic Variants (DGV) for MC1R Gene

Variant ID Type Subtype PubMed ID
esv2762221 CNV gain+loss 21179565
nsv1066499 CNV loss 25217958
nsv1070371 CNV deletion 25765185
nsv428331 CNV gain+loss 18775914
nsv482951 CNV loss 15286789
nsv509640 CNV insertion 20534489
nsv519064 CNV loss 19592680
nsv525671 CNV loss 19592680
nsv573799 CNV gain 21841781
nsv573810 CNV loss 21841781

Variation tolerance for MC1R Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.04; 80.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MC1R Gene

Human Gene Mutation Database (HGMD)
MC1R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MC1R

SNP Genotyping and Copy Number Assay Products

Disorders for MC1R Gene

MalaCards: The human disease database

(41) MalaCards diseases for MC1R Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melanoma, cutaneous malignant 5
  • melanoma, cutaneous malignant, susceptibility to, 5
skin/hair/eye pigmentation, variation in, 2
  • shep2
increased analgesia from kappa-opioid receptor agonist, female-specific
  • analgesia from kappa-opioid receptor agonist, female-specific
albinism, oculocutaneous, type ii
  • oca2
melanocytic nevus syndrome, congenital
  • cmns
- elite association - COSMIC cancer census association via MalaCards
Search MC1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSHR_HUMAN
  • Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:17434924, ECO:0000269 PubMed:19338054}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for MC1R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MC1R: view

No data available for Genatlas for MC1R Gene

Publications for MC1R Gene

  1. MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population. (PMID: 17434924) Fernandez L … Ribas G (Carcinogenesis 2007) 3 4 23 41
  2. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PMID: 19710684) Duffy DL … Montgomery GW (The Journal of investigative dermatology 2010) 3 23 41
  3. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. (PMID: 20189796) Fargnoli MC … Raimondi S (European journal of cancer (Oxford, England : 1990) 2010) 3 23 41
  4. Melanocortin 1 receptor (MC1R), pigmentary characteristics and sun exposure: findings from a case-control study of diffuse large B-cell and follicular lymphoma. (PMID: 20129839) Kane EV … Lightfoot T (Cancer epidemiology 2010) 3 23 41
  5. The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: findings from an Australian population. (PMID: 19571821) Hacker E … Whiteman DC (The Journal of investigative dermatology 2010) 3 23 41

ExternalLinks

View latest publications for MC1R gene in Mastermind

Products for MC1R Gene

  • Addgene plasmids for MC1R
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Sources for MC1R Gene