Gene: PADI6

Alternate names for this Gene: PREMBL2|hPADVI

Gene Summary: This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.13

Description of this Gene: peptidyl arginine deiminase 6

Type of Gene: protein-coding

rs7538876 in PADI6 gene and Basal Cell Cancer PMID 18849993 2008 Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

rs7538876 in PADI6 gene and Basal Cell Neoplasm PMID 18849993 2008 Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

rs7538876 in PADI6 gene and Basal cell carcinoma PMID 18849993 2008 Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

rs1924553 in PADI6 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs7538876 in PADI6 gene and Carcinoma, Basal Cell PMID 18849993 2008 Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

rs7538876 in PADI6 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs775156958 in PADI6 gene and PREIMPLANTATION EMBRYONIC LETHALITY 2 PMID 27545678 2016 Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.

rs6695640 in PADI6 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.