Gene: HERC2

Alternate names for this Gene: D15F37S1|MRT38|SHEP1|jdf2|p528

Gene Summary: This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16.

Gene is located in Chromosome: 15

Location in Chromosome : 15q13.1

Description of this Gene: HECT and RLD domain containing E3 ubiquitin protein ligase 2

Type of Gene: protein-coding

rs12916300 in HERC2 gene and Adenocarcinoma of large intestine PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs8033755 in HERC2 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs12913832 in HERC2 gene and Asthma PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

rs1129038 in HERC2 gene and Astigmatism PMID 30306274 2018 Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

rs12916300 in HERC2 gene and Basal Cell Cancer PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs12916300 in HERC2 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.

rs12916300 in HERC2 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.

rs12916300 in HERC2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs12916300 in HERC2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs12916300 in HERC2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs12916300 in HERC2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs12592730 in HERC2 gene and Color of iris PMID 18252221 2008 Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

PMID 18252221 2008 Furthermore, HERC2 rs916977 showed a clinal allele distribution across 23 European populations, which was significantly correlated to iris color variation.

rs12916300 in HERC2 gene and Colorectal Carcinoma PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs12916300 in HERC2 gene and Colorectal Neoplasms PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs1129038 in HERC2 gene and Eye Color PMID 23486544 2013 Genetics of eye colours in different rural populations on the Silk Road.

PMID 23548203 2013 Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)).

PMID 20463881 2010 Digital quantification of human eye color highlights genetic association of three new loci.

PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

PMID 23118974 2012 Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

PMID 17952075 2007 Genetic determinants of hair, eye and skin pigmentation in Europeans.

PMID 23118974 2012 In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits.

PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

PMID 18252221 2008 Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

rs12913832 in HERC2 gene and Glaucoma PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

rs1129038 in HERC2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

PMID 18483556 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

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.

PMID 26184321 2015 Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.

rs397518474 in HERC2 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 PMID 23065719 2012 A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

rs12916300 in HERC2 gene and Malignant neoplasm of large intestine PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs12916300 in HERC2 gene and Malignant tumor of colon PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs1057519727 in HERC2 gene and Mammary Neoplasms PMID 23220880 2013 Activating HER2 mutations in HER2 gene amplification negative breast cancer.

PMID 16397024 2006 Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas.

rs1129038 in HERC2 gene and Regular astigmatism - corneal PMID 30306274 2018 Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

rs1129038 in HERC2 gene and Skin Pigmentation 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.

rs12916300 in HERC2 gene and Squamous cell carcinoma PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

rs1129038 in HERC2 gene and Suntan 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.

PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs1129038 in HERC2 gene and Vitiligo PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs1129038 in HERC2 gene and melanoma PMID 21926416 2011 Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.