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Aliases for PADI6 Gene

Aliases for PADI6 Gene

  • Peptidyl Arginine Deiminase 6 2 3 5
  • Peptidyl Arginine Deiminase-Like Protein 3 4
  • Peptidyl Arginine Deiminase, Type VI 2 3
  • EC 4 56
  • HPADVI 3 4
  • Protein-Arginine Deiminase Type VI 4
  • Peptidylarginine Deiminase Type 6 3
  • Protein-Arginine Deiminase Type-6 3
  • Peptidylarginine Deiminase VI 4
  • PREMBL2 3
  • PAD6 4

External Ids for PADI6 Gene

Previous GeneCards Identifiers for PADI6 Gene

  • GC00U911624
  • GC01U901038
  • GC01P017444
  • GC01P017571
  • GC01P017698
  • GC01P015944

Summaries for PADI6 Gene

Entrez Gene Summary for PADI6 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 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. [provided by RefSeq, Sep 2012]

GeneCards Summary for PADI6 Gene

PADI6 (Peptidyl Arginine Deiminase 6) is a Protein Coding gene. Diseases associated with PADI6 include Preimplantation Embryonic Lethality 2. Among its related pathways are Chromatin organization and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein-arginine deiminase activity. An important paralog of this gene is PADI4.

UniProtKB/Swiss-Prot for PADI6 Gene

  • Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678).

Additional gene information for PADI6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PADI6 Gene

Genomics for PADI6 Gene

GeneHancer (GH) Regulatory Elements for PADI6 Gene

Promoters and enhancers for PADI6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I017431 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 22.9 +65.7 65694 13.2 HDGF HNRNPUL1 PKNOX1 SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 RCC2 PADI6 ENSG00000226526 MFAP2 GC01M017408 PIR50299
GH01I017422 Enhancer 0.8 ENCODE dbSUPER 23.2 +51.4 51425 2.9 SCRT1 KLF1 NFIB ZNF121 NFIC ZFHX2 POLR2A SCRT2 PADI6 GC01M017408 PIR50299 RCC2
GH01I017426 Enhancer 0.5 dbSUPER 22.8 +55.7 55706 1.8 ATF4 NFIC NFIB POLR2A SIN3A CEBPB MNT PADI6 RCC2 GC01M017408 PIR50299
GH01I017409 Enhancer 0.4 dbSUPER 23.8 +37.5 37521 1.4 GATA3 POLR2A ZIC2 PADI6 GC01M017408 PIR50299 RCC2
GH01I017425 Enhancer 0.4 dbSUPER 23.7 +53.9 53913 1.6 POLR2B FOXA2 POLR2A PADI6 RCC2 GC01M017408 PIR50299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PADI6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PADI6 gene promoter:

Genomic Locations for PADI6 Gene

Genomic Locations for PADI6 Gene
29,504 bases
Plus strand

Genomic View for PADI6 Gene

Genes around PADI6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PADI6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PADI6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PADI6 Gene

Proteins for PADI6 Gene

  • Protein details for PADI6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-arginine deiminase type-6
    Protein Accession:
    Secondary Accessions:
    • Q330K5
    • Q70SX3

    Protein attributes for PADI6 Gene

    694 amino acids
    Molecular mass:
    77727 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PADI6 Gene

neXtProt entry for PADI6 Gene

Selected DME Specific Peptides for PADI6 Gene


Post-translational modifications for PADI6 Gene

  • Phosphorylation at Ser-10, possibly by RSK-type kinases, and Ser-446 creates binding sites for 14-3-3 proteins.

Other Protein References for PADI6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PADI6 Gene

Gene Families for PADI6 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PADI6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein arginine deiminase family.
  • Belongs to the protein arginine deiminase family.
genes like me logo Genes that share domains with PADI6: view

Function for PADI6 Gene

Molecular function for PADI6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Protein L-arginine + H(2)O = protein L-citrulline + NH(3).
UniProtKB/Swiss-Prot Function:
Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678).

Enzyme Numbers (IUBMB) for PADI6 Gene

Phenotypes From GWAS Catalog for PADI6 Gene

Gene Ontology (GO) - Molecular Function for PADI6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004668 protein-arginine deiminase activity IBA --
GO:0005509 calcium ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PADI6: view
genes like me logo Genes that share phenotypes with PADI6: view

Human Phenotype Ontology for PADI6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PADI6 Gene

MGI Knock Outs for PADI6:

Animal Model Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for PADI6 Gene

Localization for PADI6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PADI6 Gene

Cytoplasm. Nucleus.

Gene Ontology (GO) - Cellular Components for PADI6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IDA 27545678
GO:0045111 intermediate filament cytoskeleton IEA --
genes like me logo Genes that share ontologies with PADI6: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for PADI6 Gene

Pathways & Interactions for PADI6 Gene

genes like me logo Genes that share pathways with PADI6: view

Pathways by source for PADI6 Gene

2 BioSystems pathways for PADI6 Gene
2 Reactome pathways for PADI6 Gene

Interacting Proteins for PADI6 Gene

Gene Ontology (GO) - Biological Process for PADI6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007028 cytoplasm organization IEA --
GO:0018101 protein citrullination IEA --
GO:0034613 cellular protein localization IEA --
GO:0036414 histone citrullination IBA --
genes like me logo Genes that share ontologies with PADI6: view

No data available for SIGNOR curated interactions for PADI6 Gene

Drugs & Compounds for PADI6 Gene

(5) Drugs for PADI6 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Full agonist, Agonist, Target 0
Ammonia Approved Pharma 0
Water Approved Pharma 0
calcium Approved Nutra 0
ADI-PEG 20 Pharma inhibitor 0
genes like me logo Genes that share compounds with PADI6: view

Transcripts for PADI6 Gene

mRNA/cDNA for PADI6 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PADI6 Gene

Peptidyl arginine deiminase, type VI:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PADI6 Gene

No ASD Table

Relevant External Links for PADI6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PADI6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PADI6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PADI6 Gene

This gene is overexpressed in Ovary (x34.7) and Whole Blood (x11.1).

Protein differential expression in normal tissues from HIPED for PADI6 Gene

This gene is overexpressed in Fetal ovary (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PADI6 Gene

Protein tissue co-expression partners for PADI6 Gene

NURSA nuclear receptor signaling pathways regulating expression of PADI6 Gene:


SOURCE GeneReport for Unigene cluster for PADI6 Gene:


mRNA Expression by UniProt/SwissProt for PADI6 Gene:

Tissue specificity: Highly expressed in oocytes and weakly expressed in other somatic tissues.
genes like me logo Genes that share expression patterns with PADI6: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PADI6 Gene

Orthologs for PADI6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PADI6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PADI6 33
  • 99.37 (n)
(Canis familiaris)
Mammalia PADI6 33
  • 81.22 (n)
(Bos Taurus)
Mammalia PADI6 33
  • 77.13 (n)
(Rattus norvegicus)
Mammalia Padi6 33
  • 75.16 (n)
(Mus musculus)
Mammalia Padi6 33 16
  • 74.54 (n)
Species where no ortholog for PADI6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PADI6 Gene

Gene Tree for PADI6 (if available)
Gene Tree for PADI6 (if available)

Paralogs for PADI6 Gene

Paralogs for PADI6 Gene

(4) SIMAP similar genes for PADI6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PADI6: view

Variants for PADI6 Gene

Sequence variations from dbSNP and Humsavar for PADI6 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057517681 pathogenic, Preimplantation embryonic lethality 2 17,394,041(+) C/T coding_sequence_variant, stop_gained
rs1057517682 pathogenic, Preimplantation embryonic lethality 2 17,401,360(+) AGAG/AG coding_sequence_variant, frameshift
rs1057517683 pathogenic, Preimplantation embryonic lethality 2 17,392,121(+) C/T coding_sequence_variant, stop_gained
rs1057517684 pathogenic, Preimplantation embryonic lethality 2, embryonic lethality 2 (PREMBL2) [MIM:617234] 17,395,663(+) G/A coding_sequence_variant, missense_variant
rs775156958 pathogenic, Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 (PREMBL2) [MIM:617234] 17,382,046(+) T/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PADI6 Gene

Variant ID Type Subtype PubMed ID
nsv478562 CNV novel sequence insertion 20440878
nsv473158 CNV novel sequence insertion 20440878
esv3585366 CNV gain 21293372
esv2626551 CNV deletion 19546169
esv2590404 CNV deletion 19546169
esv2214804 CNV deletion 18987734

Additional Variant Information for PADI6 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PADI6 Gene

Disorders for PADI6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PADI6 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
preimplantation embryonic lethality 2
  • prembl2
- elite association - COSMIC cancer census association via MalaCards
Search PADI6 in MalaCards View complete list of genes associated with diseases


  • Preimplantation embryonic lethality 2 (PREMBL2) [MIM:617234]: A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive. {ECO:0000269 PubMed:27545678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PADI6

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PADI6: view

No data available for Genatlas for PADI6 Gene

Publications for PADI6 Gene

  1. Comparative analysis of the mouse and human peptidylarginine deiminase gene clusters reveals highly conserved non-coding segments and a new human gene, PADI6. (PMID: 15087120) Chavanas S … Simon M (Gene 2004) 2 3 4 22 58
  2. cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type VI. (PMID: 15625577) Zhang J … Mao Y (Acta biochimica Polonica 2004) 3 4 22 58
  3. Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. (PMID: 27545678) Xu Y … Wang L (American journal of human genetics 2016) 3 4 58
  4. Identification and structural characterization of two 14-3-3 binding sites in the human peptidylarginine deiminase type VI. (PMID: 22634725) Rose R … Ottmann C (Journal of structural biology 2012) 3 4 58
  5. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (PMID: 18849993) Stacey SN … Stefansson K (Nature genetics 2008) 3 44 58

Products for PADI6 Gene

Sources for PADI6 Gene

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