PADI6 (peptidyl arginine deiminase 6)

2014-11-01  

Identity

HGNC
PADI6
LOCATION
1p36.13
LOCUSID
353238
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

References

Pubmed IDYearTitleCitations
386563082024Crystal structure of human peptidylarginine deiminase type VI (PAD6) provides insights into its inactivity.0
386563082024Crystal structure of human peptidylarginine deiminase type VI (PAD6) provides insights into its inactivity.0
372209022023Case report: human early embryonic arrest in a consanguineous Chinese family caused by a novel missense variant of PADI6.0
372209022023Case report: human early embryonic arrest in a consanguineous Chinese family caused by a novel missense variant of PADI6.0
349871642022Novel biallelic mutations in PADI6 in patients with early embryonic arrest.5
349871642022Novel biallelic mutations in PADI6 in patients with early embryonic arrest.5
332218242021Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.19
335830412021Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.11
340364562021Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.12
345734232021Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy.3
332218242021Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.19
335830412021Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.11
340364562021Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.12
345734232021Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy.3
316646582020New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.18

Citation

Dessen P

PADI6 (peptidyl arginine deiminase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71628/padi6-(peptidyl-arginine-deiminase-6)