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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
  • Protein-Arginine Deiminase Type-6 3 4
  • EC 3.5.3.15 4 56
  • HPADVI 3 4
  • Protein-Arginine Deiminase Type VI 4
  • Peptidylarginine 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 protein citrullination. 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J017431 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.9 +65.7 65739 13.1 HDGF ZNF652 ZFX ELF3 MNT ZNF148 NKRF MLLT1 ZNF121 CEBPG RCC2 PADI6 ENSG00000226526 MFAP2 GC01M017408 PIR50299
GH01J017393 Enhancer 0.7 FANTOM5 Ensembl 35.7 +21.1 21105 2.2 NFE2 MAFG NFIC ZFP3 PADI6 RCC2 PADI4 SDHB PADI2 GC01P017391 GC01P017405
GH01J017422 Enhancer 1 Ensembl ENCODE dbSUPER 23.2 +51.4 51425 2.9 ZNF121 NFIB POLR2A SCRT2 SCRT1 NFIC ZFHX2 KLF1 PADI6 RCC2 GC01M017408 PIR50299
GH01J017405 Enhancer 0.6 Ensembl 24.3 +33.1 33105 0.6 ZNF148 ZNF692 POLR2A USF1 ZFP69B MYNN SUPT5H ZNF335 GC01P017405 PIR50299 RCC2-AS1 GC01M017408 PADI6 GC01P017391
GH01J017426 Enhancer 0.6 dbSUPER 22.8 +55.7 55706 1.8 NFIB POLR2A ZNF37A CEBPB NFIC SIN3A ZNF184 ZNF660 ZNF513 MNT PADI6 CROCCP3 CROCC ENSG00000235241 RCC2 GC01M017408 PIR50299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PADI6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PADI6 gene promoter:
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • CHOP-10
  • CUTL1
  • GATA-2
  • HNF-4alpha1
  • HNF-4alpha2
  • POU2F1
  • POU2F1a

Genomic Locations for PADI6 Gene

Genomic Locations for PADI6 Gene
chr1:17,372,196-17,401,699
(GRCh38/hg38)
Size:
29,504 bases
Orientation:
Plus strand
chr1:17,698,691-17,728,195
(GRCh37/hg19)
Size:
29,505 bases
Orientation:
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:
    Q6TGC4-PADI6_HUMAN
    Recommended name:
    Protein-arginine deiminase type-6
    Protein Accession:
    Q6TGC4
    Secondary Accessions:
    • Q330K5
    • Q70SX3

    Protein attributes for PADI6 Gene

    Size:
    694 amino acids
    Molecular mass:
    77727 Da
    Cofactor:
    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

Q6TGC4:
  • AQQVQAPV
  • GKEYPLGR
  • LASPSAC
  • LGIPKPFGP

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PADI6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PADI6 Gene

Gene Families for PADI6 Gene

HGNC:
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:
  • Protein-arginine deiminase type VI (PADI6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6TGC4

UniProtKB/Swiss-Prot:

PADI6_HUMAN :
  • Belongs to the protein arginine deiminase family.
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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+); Xref=Rhea:RHEA:18089, Rhea:RHEA-COMP:10532, Rhea:RHEA-COMP:10588, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:29965, ChEBI:CHEBI:83397; EC=3.5.3.15;.

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 21873635
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:
  • Padi6 Padi6<tm1b(KOMP)Wtsi>
  • Padi6 Padi6<tm1.1Jgo>

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PADI6 - Now 50% OFF >
  • * PADI6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PADI6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PADI6 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PADI6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IDA,IBA 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 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 21873635
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 7611
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 to gene/alias where relevant :

Unigene Clusters for PADI6 Gene

Peptidyl arginine deiminase, type VI:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PADI6 - Now 50% OFF >
  • * PADI6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PADI6 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for PADI6 Gene

GeneLoc Exon Structure for
PADI6
ECgene alternative splicing isoforms for
PADI6

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:

PADI6

SOURCE GeneReport for Unigene cluster for PADI6 Gene:

Hs.531598

mRNA Expression by UniProt/SwissProt for PADI6 Gene:

Q6TGC4-PADI6_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia PADI6 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia PADI6 34
  • 81.22 (n)
cow
(Bos Taurus)
Mammalia PADI6 34
  • 77.13 (n)
rat
(Rattus norvegicus)
Mammalia Padi6 34
  • 75.16 (n)
mouse
(Mus musculus)
Mammalia Padi6 17 34
  • 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

ENSEMBL:
Gene Tree for PADI6 (if available)
TreeFam:
Gene Tree for PADI6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PADI6: view image

Paralogs for PADI6 Gene

Paralogs for PADI6 Gene

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

  • PADI6_HUMAN
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/G/T coding_sequence_variant, missense_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, Preimplantation 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
esv2214804 CNV deletion 18987734
esv2590404 CNV deletion 19546169
esv2626551 CNV deletion 19546169
esv3585366 CNV gain 21293372
nsv473158 CNV novel sequence insertion 20440878
nsv478562 CNV novel sequence insertion 20440878

Additional Variant Information for PADI6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PADI6
Human Gene Mutation Database (HGMD)
PADI6

SNP Genotyping and Copy Number Assay Products

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, GTR, 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

UniProtKB/Swiss-Prot

PADI6_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 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 23 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 45 58

Products for PADI6 Gene

Sources for PADI6 Gene

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