Gene: SLC45A2
Alternate names for this Gene: 1A1|AIM1|MATP|OCA4|SHEP5
Gene Summary: This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 5
Location in Chromosome : 5p13.2
Description of this Gene: solute carrier family 45 member 2
Type of Gene: protein-coding
rs16891982 in
SLC45A2 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.
rs16891982 in
SLC45A2 gene and
Basal Cell Neoplasm
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.
rs16891982 in
SLC45A2 gene and
Basal 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.
rs16891982 in
SLC45A2 gene and
Eye Color
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
rs116887602 in
SLC45A2 gene and
Hair Color
PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
PMID 26184321 2015 Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.
PMID 18483556 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
rs183671 in
SLC45A2 gene and
Melanosis
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
rs121912619 in
SLC45A2 gene and
Oculocutaneous Albinism, Type IV
PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
PMID 14722913 2004 Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
PMID 15656822 2005 A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.
PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
PMID 14961451 2004 Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
PMID 11574907 2001 Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
PMID 17768386 2007 SLC45A2 variations in Indian oculocutaneous albinism patients.
PMID 15656822 2005 A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.
PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.
PMID 19865097 2010 The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients.
PMID 15565285 2005 Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.
PMID 24845642 2014 Relationship between foveal cone specialization and pit morphology in albinism.
rs16891982 in
SLC45A2 gene and
Skin Pigmentation
PMID 17999355 2007 A genomewide association study of skin pigmentation in a South Asian population.
PMID 28300201 2017 Identification of a novel locus associated with skin colour in African-admixed populations.
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
PMID 25963972 2015 Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
rs16891982 in
SLC45A2 gene and
Squamous cell carcinoma
PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs35407 in
SLC45A2 gene and
Squamous cell carcinoma of skin
PMID 27424798 2016 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.
rs16891982 in
SLC45A2 gene and
Suntan
PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.
PMID 19340012 2009 Genome-wide association study of tanning phenotype in a population of European ancestry.
rs16891982 in
SLC45A2 gene and
melanoma
PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
PMID 21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.