Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

Advanced Search

Field

Term

Summary Table

Your research retrieved 15 results.

Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference
Agouti (ASIP)	Coloration	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Bonilla C; Boxill LA; Donald SA ; et al. (2005) The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with dar[...] 2 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2008) Two newly identified genetic determinants of pigmentation in Europeans. Voisey J; Gomez-Cabrera Mdel C; Smit DJ (2006) A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.
EGFR	Coloration	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]
EIF2S2	Coloration	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]
GSS (glutathione synthetase)	Coloration	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]
IRF4	Coloration	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Praetorius C; Grill C; Stacey SN ; et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...] 1 Additional References Visser M; Palstra RJ; Kayser M (2015) Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping o[...]
Kit ligand	Coloration	2 Mutations: Cis-regulatory,	Homo sapiens human - (species)	Intraspecific	Association Mapping	2 References
MC1R	Coloration	13 Mutations: Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Mixed	4 References
MFSD12	Coloration	2 Mutations: N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	2 References
Oca2	Coloration	2 Mutations: SNP,	Homo sapiens human - (species)	Intraspecific	Association Mapping	2 References
OPRM1	Coloration	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]
SLC24A5 (NCKX5)	Coloration	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lamason RL; Mohideen MA; Mest JR ; et al. (2005) SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. 5 Additional References Beleza S; Johnson NA; Candille SI (2013) Genetic architecture of skin and eye color in an African-European admixed population. Wakamatsu K; Kavanagh R; Kadekaro AL (2006) Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as[...] Ginger RS; Askew SE; Ogborne RM (2008) SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activ[...] Quillen EE; Bauchet M; Bigham AW (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...] Basu Mallick C; Iliescu FM; Möls M (2013) The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent.
SLC45A2=MATP	Coloration	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Graf J; Hodgson R; van Daal A (2005) Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...] 3 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...] Quillen EE; Bauchet M; Bigham AW (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...] Cook AL; Chen W; Thurber AE (2009) Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5[...]
TPCN2	Coloration	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2008) Two newly identified genetic determinants of pigmentation in Europeans.
tyrosinase (TYR)	Coloration	2 Mutations: Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	2 References
tyrosinase-related protein 1 (TYRP1)	Coloration	2 Mutations:	Homo sapiens human - (species) D	Intraspecific	Association Mapping	2 References