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Aliases for PADI2 Gene

Aliases for PADI2 Gene

  • Peptidyl Arginine Deiminase 2 2 3 5
  • 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 56
  • PAD-H19 3 4
  • PAD2 3 4
  • PDI2 3 4
  • Peptidylarginine Deiminase II 4
  • KIAA0994 4

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 Alzheimer Disease. Among its related pathways are Innate Immune System and Chromatin organization. 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 for PADI2 Gene

Gene Wiki entry for PADI2 Gene

Additional gene information for PADI2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PADI2 Gene

Genomics for PADI2 Gene

GeneHancer (GH) Regulatory Elements for PADI2 Gene

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 2 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.5 452 2.4 SP1 ZNF687 POLR2A KLF14 MLLT1 IKZF1 GLIS2 PKNOX1 PRDM10 BACH1 PADI2 CROCC SDHB GC01M017107 GC01M017106
GH01J017120 Enhancer 0.9 ENCODE dbSUPER 600.7 -0.9 -868 0.2 IKZF1 GLIS2 IKZF2 ZIC2 LARP7 PATZ1 TRIM22 SP2 DPF2 ZNF10 PADI2 PIR46847 GC01M017106 GC01M017107
GH01J017096 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 104.9 +20.6 20611 3.9 ZNF687 IKZF1 ZIC2 PHF21A PKNOX1 ZNF341 CEBPB SMARCA5 ZNF768 KLF17 PADI2 PADI4 CROCCP2 SDHB
GH01J017085 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 48.9 +35.5 35452 6 ZNF121 ZNF687 IKZF1 GLIS2 IKZF2 ZIC2 ZNF768 EBF1 BHLHE40 ZNF664 PADI2 CROCC MFAP2 PADI4 NBPF1 SDHB
GH01J017087 Enhancer 0.6 dbSUPER 84.8 +31.3 31300 1 ZNF121 PKNOX1 ZIC2 ZNF561 OSR2 ZNF423 ZNF18 ZNF664 FEZF1 PADI2 PADI4 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 UCSC Golden Path with GeneCards custom track

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

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 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

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for PADI2 - Now 50% OFF >
  • * PADI2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PADI2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
extracellular 4
nucleus 4
cytosol 4
lysosome 4
mitochondrion 2
cytoskeleton 1
golgi apparatus 1
peroxisome 0

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

Interacting Proteins 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 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 PADI2: view

Transcripts for PADI2 Gene

mRNA/cDNA for PADI2 Gene

Unigene Clusters for PADI2 Gene

Peptidyl arginine deiminase, type II:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for PADI2 - Now 50% OFF >
  • * PADI2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PADI2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
ECgene alternative splicing isoforms for
PADI2

Expression for PADI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of PADI2 Gene:

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(4.7)
  • Skin(4.2)
  • Pancreas(4.1)
  • Muscle(3.1)
  • Blood(2.3)
  • Eye(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 35 34
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PADI2 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PADI2 35 34
  • 91.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Padi2 34
  • 88.37 (n)
mouse
(Mus musculus)
Mammalia Padi2 17 35 34
  • 88.02 (n)
oppossum
(Monodelphis domestica)
Mammalia PADI2 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PADI2 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PADI2 35 34
  • 70.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PADI2 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia padi2 34
  • 65.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia padi2-prov 34
zebrafish
(Danio rerio)
Actinopterygii padi2 35 34
  • 59.95 (n)
OneToMany
sbcb968 34
Species where no ortholog for PADI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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 from dbSNP and Humsavar for PADI2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000042855 -- 17,097,534(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000146890 -- 17,086,644(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1000192763 -- 17,081,891(-) T/A intron_variant
rs1000293448 -- 17,109,006(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000321427 -- 17,104,231(-) A/G genic_upstream_transcript_variant, intron_variant

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

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

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

Disorder Aliases PubMed IDs
multiple sclerosis
  • multiple sclerosis, susceptibility to
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
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 58
  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 45 58
  3. A two-stage case-control association study of PADI2 with schizophrenia. (PMID: 19478818) Watanabe Y … Someya T (Journal of human genetics 2009) 3 45 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Comparison of enzymatic properties between hPADI2 and hPADI4. (PMID: 15629448) Nakayama-Hamada M … Yamamoto K (Biochemical and biophysical research communications 2005) 3 23 58

Products for PADI2 Gene

Sources for PADI2 Gene

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