PADI6 (peptidyl arginine deiminase 6)

2014-11-01  

Identity

HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
PREMBL2,hPADVI

Other Information

Locus ID:

NCBI: 353238
MIM: 610363
HGNC: 20449
Ensembl: ENSG00000276747

Variants:

dbSNP: 353238
ClinVar: 353238
TCGA: ENSG00000276747
COSMIC: PADI6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000276747ENST00000619609Q6TGC4

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509

References

Pubmed IDYearTitleCitations
188499932008Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.47
295744222018Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.20
226347252012Identification and structural characterization of two 14-3-3 binding sites in the human peptidylarginine deiminase type VI.7
296936512018Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.7
150871202004Comparative analysis of the mouse and human peptidylarginine deiminase gene clusters reveals highly conserved non-coding segments and a new human gene, PADI6.0
156255772004cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type VI.0
275456782016Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.0
277306292017The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs.0

Citation

Dessen P

PADI6 (peptidyl arginine deiminase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71628/padi6