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. The type II enzyme is the most widely expressed family me... See more...

Aliases for PADI2 Gene

Aliases for PADI2 Gene

  • Peptidyl Arginine Deiminase 2 2 3 5
  • PDI2 2 3 4
  • Peptidyl Arginine Deiminase, Type II 2 3
  • Protein-Arginine Deiminase Type II 3 4
  • Protein-Arginine Deiminase Type-2 3 4
  • EC 3.5.3.15 4 51
  • KIAA0994 2 4
  • PAD-H19 3 4
  • PAD2 3 4
  • Peptidylarginine Deiminase II 4
  • PADI2 5

External Ids for PADI2 Gene

Previous GeneCards Identifiers for PADI2 Gene

  • GC01M017130
  • GC01M016434
  • GC01M016775
  • GC01M016776
  • GC01M017138
  • GC01M017265
  • GC01M017393
  • GC01M015637

Summaries for PADI2 Gene

Entrez Gene Summary for PADI2 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. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for PADI2 Gene

PADI2 (Peptidyl Arginine Deiminase 2) is a Protein Coding gene. Diseases associated with PADI2 include Multiple Sclerosis and Rheumatoid Arthritis Interstitial Lung Disease. Among its related pathways are Chromatin organization and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein-arginine deiminase activity. An important paralog of this gene is PADI1.

UniProtKB/Swiss-Prot Summary for PADI2 Gene

Gene Wiki entry for PADI2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PADI2 Gene

Genomics for PADI2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PADI2 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
GH01J017117 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.5 452 2.4 SP1 PRDM10 KDM1A BACH1 LARP7 DDX20 ZIC2 PKNOX1 PATZ1 TCF12 PADI2 CROCC HSALNG0001255 SDHB
GH01J017120 Enhancer 0.9 ENCODE dbSUPER 600.7 -0.9 -868 0.2 LARP7 ZIC2 PATZ1 IKZF2 TRIM22 SP2 DPF2 ZNF10 GATAD2B TCF12 PADI2 piR-52848 PADI1
GH01J017096 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 104.9 +20.6 20610 3.9 PHF21A ZIC2 ZNF341 PKNOX1 GATAD2B ESR1 CEBPB KLF9 SMARCA5 EBF1 PADI2 PADI4 CROCCP2 HSALNG0001255 MN308685 SDHB
GH01J017097 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 80.4 +28.3 28252 1.6 TEAD4 NR2F2 SPI1 PADI2 MN308685 HSALNG0001255 SDHB
GH01J017095 Enhancer 0.7 Ensembl dbSUPER 78.2 +24.3 24252 0.4 ZNF24 RELB IRF4 MAZ RB1 ATF2 BHLHE40 ZNF687 PADI2 MN308685 HSALNG0001255 SDHB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PADI2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PADI2

Top Transcription factor binding sites by QIAGEN in the PADI2 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • E47
  • Max1
  • NF-1
  • NF-1/L
  • RREB-1
  • Sp1

Genomic Locations for PADI2 Gene

Genomic Locations for PADI2 Gene
chr1:17,066,761-17,119,453
(GRCh38/hg38)
Size:
52,693 bases
Orientation:
Minus strand
chr1:17,393,256-17,445,948
(GRCh37/hg19)
Size:
52,693 bases
Orientation:
Minus strand

Genomic View for PADI2 Gene

Genes around PADI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PADI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PADI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PADI2 Gene

Proteins for PADI2 Gene

  • Protein details for PADI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2J8-PADI2_HUMAN
    Recommended name:
    Protein-arginine deiminase type-2
    Protein Accession:
    Q9Y2J8
    Secondary Accessions:
    • Q96DA7
    • Q9UPN2

    Protein attributes for PADI2 Gene

    Size:
    665 amino acids
    Molecular mass:
    75564 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAA76838.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PADI2 Gene

    Alternative splice isoforms for PADI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PADI2 Gene

Selected DME Specific Peptides for PADI2 Gene

Q9Y2J8:
  • AQQVQAPV
  • VSPPVTV
  • HCGTNVRRKPF
  • APWIMTP
  • LGIPKPFGP

Post-translational modifications for PADI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PADI2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PADI2 Gene

Gene Families for PADI2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PADI2 Gene

InterPro:
Blocks:
  • Protein-arginine deiminase, PAD
ProtoNet:

Suggested Antigen Peptide Sequences for PADI2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61278, highly similar to Protein-arginine deiminase type-2 (EC 3.5.3.15) (B4DIU3_HUMAN)
  • Protein-arginine deiminase type II (PADI2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2J8

UniProtKB/Swiss-Prot:

PADI2_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 PADI2: view

Function for PADI2 Gene

Molecular function for PADI2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the deimination of arginine residues of proteins.
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; Evidence={ECO:0000269|PubMed:12392711, ECO:0000269|PubMed:25621824};.

Enzyme Numbers (IUBMB) for PADI2 Gene

Phenotypes From GWAS Catalog for PADI2 Gene

Gene Ontology (GO) - Molecular Function for PADI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004668 protein-arginine deiminase activity IBA,IDA 12392711
GO:0005509 calcium ion binding IDA 25621824
GO:0016787 hydrolase activity IEA --
GO:0030331 estrogen receptor binding IPI 22853951
GO:0042803 protein homodimerization activity IDA 25621824
genes like me logo Genes that share ontologies with PADI2: view
genes like me logo Genes that share phenotypes with PADI2: view

Animal Models for PADI2 Gene

MGI Knock Outs for PADI2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PADI2

CRISPR Products

miRNA for PADI2 Gene

miRTarBase miRNAs that target PADI2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PADI2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PADI2 Gene

Localization for PADI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PADI2 Gene

Cytoplasm.

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 PADI2 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
lysosome 4
mitochondrion 3
plasma membrane 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PADI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA,IDA 12392711
GO:0005829 cytosol TAS --
GO:0035327 transcriptionally active chromatin IDA 22853951
genes like me logo Genes that share ontologies with PADI2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PADI2 Gene

Pathways & Interactions for PADI2 Gene

genes like me logo Genes that share pathways with PADI2: view

Pathways by source for PADI2 Gene

Gene Ontology (GO) - Biological Process for PADI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0010848 regulation of chromatin disassembly IDA 22853951
GO:0018101 protein citrullination IDA 12392711
GO:0021762 substantia nigra development HEP 22926577
GO:0030520 intracellular estrogen receptor signaling pathway IMP 22853951
genes like me logo Genes that share ontologies with PADI2: view

No data available for SIGNOR curated interactions for PADI2 Gene

Drugs & Compounds for PADI2 Gene

(5) Drugs for PADI2 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Target 0
Ammonia Approved Pharma 0
Water Approved Pharma 0
ADI-PEG 20 Pharma inhibitor 0
Calcium Nutra 6556
genes like me logo Genes that share compounds with PADI2: view

Transcripts for PADI2 Gene

mRNA/cDNA for PADI2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PADI2

Alternative Splicing Database (ASD) splice patterns (SP) for PADI2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: -
SP5:

Relevant External Links for PADI2 Gene

GeneLoc Exon Structure for
PADI2

Expression for PADI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PADI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PADI2 Gene

This gene is overexpressed in Muscle - Skeletal (x11.1), Whole Blood (x9.1), and Brain - Spinal cord (cervical c-1) (x7.6).

Protein differential expression in normal tissues from HIPED for PADI2 Gene

This gene is overexpressed in Spinal cord (35.2), Retina (6.5), and Frontal cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PADI2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PADI2

SOURCE GeneReport for Unigene cluster for PADI2 Gene:

Hs.33455

mRNA Expression by UniProt/SwissProt for PADI2 Gene:

Q9Y2J8-PADI2_HUMAN
Tissue specificity: Detected in keratinocytes in epidermis (at protein level).

Evidence on tissue expression from TISSUES for PADI2 Gene

  • Nervous system(4.8)
  • Skin(4.4)
  • Pancreas(4.3)
  • Muscle(3.5)
  • Blood(3)
  • Intestine(2.5)
  • Eye(2.4)
  • Spleen(2.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with PADI2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PADI2 Gene

Orthologs for PADI2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PADI2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PADI2 30 31
  • 99.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PADI2 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PADI2 30 31
  • 91.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Padi2 30
  • 88.37 (n)
Mouse
(Mus musculus)
Mammalia Padi2 30 17 31
  • 88.02 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PADI2 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PADI2 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PADI2 30 31
  • 70.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PADI2 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia padi2 30
  • 65.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia padi2-prov 30
Zebrafish
(Danio rerio)
Actinopterygii padi2 30 31
  • 59.95 (n)
OneToMany
sbcb968 30
Species where no ortholog for PADI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PADI2 Gene

ENSEMBL:
Gene Tree for PADI2 (if available)
TreeFam:
Gene Tree for PADI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PADI2: view image

Paralogs for PADI2 Gene

Paralogs for PADI2 Gene

(4) SIMAP similar genes for PADI2 Gene using alignment to 3 proteins:

  • PADI2_HUMAN
  • B4DIU3_HUMAN
  • Q96DA7_HUMAN
genes like me logo Genes that share paralogs with PADI2: view

Variants for PADI2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PADI2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
729657 Benign: not provided 17,069,170(-) G/A SYNONYMOUS_VARIANT
767659 Likely Benign: not provided 17,086,657(-) C/T MISSENSE_VARIANT
773390 Benign: not provided 17,075,721(-) G/A SYNONYMOUS_VARIANT
777322 Benign: not provided 17,086,632(-) G/A SYNONYMOUS_VARIANT
782973 Likely Benign: not provided 17,083,758(-) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for PADI2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PADI2 Gene

Variant ID Type Subtype PubMed ID
esv2422314 CNV duplication 17116639
esv2758925 CNV gain+loss 17122850
esv3305460 CNV mobile element insertion 20981092
esv3310333 CNV mobile element insertion 20981092
esv3585359 CNV gain 21293372
nsv1009931 CNV gain 25217958
nsv1076191 CNV deletion 25765185
nsv1133818 CNV deletion 24896259
nsv1137735 CNV deletion 24896259
nsv1145323 CNV deletion 24896259
nsv428421 CNV gain+loss 18775914
nsv460662 CNV loss 19166990
nsv545690 CNV gain 21841781
nsv545691 CNV loss 21841781
nsv834280 CNV loss 17160897

Variation tolerance for PADI2 Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PADI2 Gene

Human Gene Mutation Database (HGMD)
PADI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PADI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PADI2 Gene

Disorders for PADI2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PADI2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
multiple sclerosis
  • multiple sclerosis, susceptibility to
rheumatoid arthritis interstitial lung disease
  • rheumatoid lung
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search PADI2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PADI2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PADI2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PADI2 Gene

Publications for PADI2 Gene

  1. Protein arginine deiminase 2 binds calcium in an ordered fashion: implications for inhibitor design. (PMID: 25621824) Slade DJ … Thompson PR (ACS chemical biology 2015) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. A two-stage case-control association study of PADI2 with schizophrenia. (PMID: 19478818) Watanabe Y … Someya T (Journal of human genetics 2009) 3 41
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Comparison of enzymatic properties between hPADI2 and hPADI4. (PMID: 15629448) Nakayama-Hamada M … Yamamoto K (Biochemical and biophysical research communications 2005) 3 23

Products for PADI2 Gene

Sources for PADI2 Gene