PADI6 (peptidyl arginine deiminase 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
353238
Gene name Gene Name - the full gene name approved by the HGNC.
Peptidyl arginine deiminase 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PADI6
Synonyms (NCBI Gene) Gene synonyms aliases
OZEMA16, PREMBL2, hPADVI
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.
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 distin
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs775156958 T>A Pathogenic Coding sequence variant, missense variant
rs1057517681 C>G,T Pathogenic Stop gained, missense variant, coding sequence variant
rs1057517682 AG>- Pathogenic Coding sequence variant, frameshift variant
rs1057517683 C>T Pathogenic Stop gained, coding sequence variant
rs1057517684 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
miRTarBase ID miRNA Experiments Reference
MIRT1210220 hsa-miR-3918 CLIP-seq
MIRT1210221 hsa-miR-4487 CLIP-seq
MIRT1210222 hsa-miR-4512 CLIP-seq
MIRT1210223 hsa-miR-4660 CLIP-seq
MIRT1210224 hsa-miR-4685-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0004668 Function Protein-arginine deiminase activity IBA
GO:0004668 Function Protein-arginine deiminase activity IDA 38656308, 39286527
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610363 20449 ENSG00000276747
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6TGC4
Protein name Inactive protein-arginine deiminase type-6 (Peptidyl arginine deiminase-like protein) (Peptidylarginine deiminase VI) (hPADVI) (Protein-arginine deiminase type VI) (Protein-arginine deiminase type-6)
Protein function Structural constituent of cytoplasmic lattices, which plays a key role in early embryonic development (PubMed:37922900). Cytoplasmic lattices consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:379
PDB 4DAT , 4DAU , 8QL0 , 9FMN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08526 PAD_N 9 → 120 Protein-arginine deiminase (PAD) N-terminal domain Domain
PF08527 PAD_M 122 → 281 Protein-arginine deiminase (PAD) middle domain Domain
PF03068 PAD 292 → 691 Protein-arginine deiminase (PAD) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in oocytes and weakly expressed in other somatic tissues. {ECO:0000269|PubMed:15625577, ECO:0000269|PubMed:27545678}.
Sequence
Sequence length 694
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Chromatin modifying enzymes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Preimplantation Embryonic Lethality preimplantation embryonic lethality 2 rs775156958, rs1057517683, rs1057517684, rs1057517681, rs1057517682 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
premature ovarian failure Premature ovarian failure N/A N/A ClinVar
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 29693651
Beckwith Wiedemann Syndrome Associate 32928291, 35317853
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 32928291, 35296332
Carcinoma Embryonal Associate 29693651, 31664658, 34036456, 35946397
Diabetes Mellitus Type 2 Associate 35946397
Early Onset Glaucoma Associate 35946397
Embryo Loss Associate 36088419
Epilepsy Generalized Associate 34573423
Hydatidiform Mole Associate 29693651, 32592075, 32928291
Infertility Associate 29693651, 32928291, 34036456, 36088419