This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008] See more...

Aliases for PADI4 Gene

Aliases for PADI4 Gene

  • Peptidyl Arginine Deiminase 4 2 3 5
  • PDI5 2 3 4
  • Peptidyl Arginine Deiminase, Type IV 2 3
  • Peptidyl Arginine Deiminase, Type V 2 3
  • Protein-Arginine Deiminase Type IV 3 4
  • Protein-Arginine Deiminase Type-4 3 4
  • EC 3.5.3.15 4 51
  • HL-60 PAD 3 4
  • PADI5 3 4
  • PAD4 3 4
  • PDI4 2 3
  • PAD 2 3
  • Peptidylarginine Deiminase IV 4
  • PADI-H Protein 3
  • PADI4 5

External Ids for PADI4 Gene

Previous HGNC Symbols for PADI4 Gene

  • PADI5

Previous GeneCards Identifiers for PADI4 Gene

  • GC00U991184
  • GC01P016675
  • GC01P017015
  • GC01P017379
  • GC01P017507
  • GC01P017634
  • GC01P015882

Summaries for PADI4 Gene

Entrez Gene Summary for PADI4 Gene

  • This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]

GeneCards Summary for PADI4 Gene

PADI4 (Peptidyl Arginine Deiminase 4) is a Protein Coding gene. Diseases associated with PADI4 include Rheumatoid Arthritis and Arthritis. Among its related pathways are protein citrullination and Chromatin organization. Gene Ontology (GO) annotations related to this gene include calcium ion binding and arginine deiminase activity. An important paralog of this gene is PADI1.

UniProtKB/Swiss-Prot Summary for PADI4 Gene

  • Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance. Citrullinates histone H1 at 'Arg-54' (to form H1R54ci), histone H3 at 'Arg-2', 'Arg-8', 'Arg-17' and/or 'Arg-26' (to form H3R2ci, H3R8ci, H3R17ci, H3R26ci, respectively) and histone H4 at 'Arg-3' (to form H4R3ci). Acts as a key regulator of stem cell maintenance by mediating citrullination of histone H1: citrullination of 'Arg-54' of histone H1 (H1R54ci) results in H1 displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Promotes profound chromatin decondensation during the innate immune response to infection in neutrophils by mediating formation of H1R54ci. Citrullination of histone H3 prevents their methylation by CARM1 and HRMT1L2/PRMT1 and represses transcription. Citrullinates EP300/P300 at 'Arg-2142', which favors its interaction with NCOA2/GRIP1.

Gene Wiki entry for PADI4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PADI4 Gene

Genomics for PADI4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PADI4 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
GH01J017307 Promoter 0.8 EPDnew 600.7 0.0 -17 0.1 JUND NFE2 ZNF316 FOSL1 MAFG MAFK VEZF1 ATF3 L3MBTL2 BACH1 PADI4 MIR3972 MN308911 PADI3
GH01J017306 Promoter 0.6 Ensembl 600.7 -1.9 -1894 0.2 REST ZNF341 ZNF623 PADI4 MIR3972 PADI3
GH01J017309 Promoter 0.4 Ensembl 600.7 -1.5 -1494 0.2 REST PADI4 MIR3972 PADI3
GH01J017347 Enhancer 1 Ensembl ENCODE 34.4 +40.3 40305 1.8 CREB1 IKZF1 KDM1A JUND MTA2 ZIC2 BRD9 DPF2 HDAC1 EP300 PADI4 HSALNG0001266 piR-48759-003 PADI6
GH01J017096 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.6 -209.4 -209352 3.9 PHF21A ZIC2 ZNF341 PKNOX1 GATAD2B ESR1 CEBPB KLF9 SMARCA5 EBF1 PADI2 PADI4 CROCCP2 HSALNG0001255 MN308685 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 PADI4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PADI4

Top Transcription factor binding sites by QIAGEN in the PADI4 gene promoter:
  • AML1a

Genomic Locations for PADI4 Gene

Genomic Locations for PADI4 Gene
chr1:17,308,195-17,364,004
(GRCh38/hg38)
Size:
55,810 bases
Orientation:
Plus strand
chr1:17,634,690-17,690,499
(GRCh37/hg19)
Size:
55,810 bases
Orientation:
Plus strand

Genomic View for PADI4 Gene

Genes around PADI4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PADI4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PADI4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PADI4 Gene

Proteins for PADI4 Gene

  • Protein details for PADI4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM07-PADI4_HUMAN
    Recommended name:
    Protein-arginine deiminase type-4
    Protein Accession:
    Q9UM07
    Secondary Accessions:
    • A8K392
    • B2RBW0
    • Q5VTZ8
    • Q70SX4

    Protein attributes for PADI4 Gene

    Size:
    663 amino acids
    Molecular mass:
    74079 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PADI4 Gene

neXtProt entry for PADI4 Gene

Selected DME Specific Peptides for PADI4 Gene

Q9UM07:
  • VGHVDEFL
  • AQQVQAPV
  • VNMLVLGK
  • GKEYPLGR
  • VSPPVTV
  • HCGTNVRRKPF
  • PTHAVCV
  • APWIMTP
  • LGIPKPFGP
  • PVVFDSPRN

Post-translational modifications for PADI4 Gene

  • Autocitrullination at Arg-372 and Arg-374 inactivates the enzyme.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PADI4 Gene

Gene Families for PADI4 Gene

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

Protein Domains for PADI4 Gene

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

Suggested Antigen Peptide Sequences for PADI4 Gene

GenScript: Design optimal peptide antigens:
  • Protein-arginine deiminase type IV (PADI4_HUMAN)
  • PADI4 protein (Q53HY9_HUMAN)
  • Peptidyl arginine deiminase type IV (Q6EVJ1_HUMAN)
  • Peptidyl arginine deiminase type IV (Q6EVJ2_HUMAN)
  • Peptidyl arginine deiminase type IV (Q6EVJ4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UM07

UniProtKB/Swiss-Prot:

PADI4_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 PADI4: view

Function for PADI4 Gene

Molecular function for PADI4 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance. Citrullinates histone H1 at 'Arg-54' (to form H1R54ci), histone H3 at 'Arg-2', 'Arg-8', 'Arg-17' and/or 'Arg-26' (to form H3R2ci, H3R8ci, H3R17ci, H3R26ci, respectively) and histone H4 at 'Arg-3' (to form H4R3ci). Acts as a key regulator of stem cell maintenance by mediating citrullination of histone H1: citrullination of 'Arg-54' of histone H1 (H1R54ci) results in H1 displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Promotes profound chromatin decondensation during the innate immune response to infection in neutrophils by mediating formation of H1R54ci. Citrullination of histone H3 prevents their methylation by CARM1 and HRMT1L2/PRMT1 and represses transcription. Citrullinates EP300/P300 at 'Arg-2142', which favors its interaction with NCOA2/GRIP1.
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:16567635, ECO:0000269|PubMed:21245532};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.055 mM for fibrinogen {ECO:0000269|PubMed:15629448}; KM=0.064 mM for filaggrin {ECO:0000269|PubMed:15629448}; Vmax=33.2 umol/h/mg enzyme toward fibrinogen {ECO:0000269|PubMed:15629448}; Vmax=8.0 umol/h/mg enzyme toward filaggrin {ECO:0000269|PubMed:15629448}; pH dependence: Optimum pH is 6.5-9.0. {ECO:0000269|PubMed:15629448};
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly Inhibited by F-amidine and N-alpha-benzoyl-N5-(2-chloro-1-iminoethyl)-L-ornithine amide (Cl-amidine). These inhibitors are however not specific to PADI4 and also inhibit other members of the family (PubMed:17002273). Incorporation of a carboxylate ortho to the backbone amide of Cl-amidine results in inhibitors with increased specificity for PADI4: N-alpha-(2-carboxyl)benzoyl-N(5)-(2-fluoro-1-iminoethyl)-L-ornithine amide (o-F-amidine) and N-alpha-(2-carboxyl)benzoyl-N(5)-(2-chloro-1-iminoethyl)-L-ornithine amide (o-Cl-amidine) (PubMed:21882827). Strongly and specifically inhibited by Thr-Asp-F-amidine (TDFA); other members of the family are not inhibited (PubMed:22004374).

Enzyme Numbers (IUBMB) for PADI4 Gene

Phenotypes From GWAS Catalog for PADI4 Gene

Gene Ontology (GO) - Molecular Function for PADI4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004668 protein-arginine deiminase activity IMP 15247907
GO:0005509 calcium ion binding IMP 15247907
GO:0005515 protein binding IPI 21584310
GO:0016787 hydrolase activity IEA --
GO:0034618 arginine binding IMP 15247907
genes like me logo Genes that share ontologies with PADI4: view
genes like me logo Genes that share phenotypes with PADI4: view

Human Phenotype Ontology for PADI4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PADI4 Gene

MGI Knock Outs for PADI4:

Animal Model Products

  • Taconic Biosciences Mouse Models for PADI4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PADI4

No data available for Transcription Factor Targets and HOMER Transcription for PADI4 Gene

Localization for PADI4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PADI4 Gene

Cytoplasm. Nucleus. Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils and neutrophils.

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 PADI4 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PADI4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 15339660
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0032991 protein-containing complex IMP 15247907
genes like me logo Genes that share ontologies with PADI4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PADI4 Gene

Pathways & Interactions for PADI4 Gene

PathCards logo

SuperPathways for PADI4 Gene

genes like me logo Genes that share pathways with PADI4: view

Pathways by source for PADI4 Gene

1 BioSystems pathway for PADI4 Gene
2 Reactome pathways for PADI4 Gene

Gene Ontology (GO) - Biological Process for PADI4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006325 chromatin organization TAS --
GO:0006334 nucleosome assembly IEA,ISS --
GO:0006338 chromatin remodeling IEA,ISS --
GO:0006464 cellular protein modification process TAS 10488123
genes like me logo Genes that share ontologies with PADI4: view

No data available for SIGNOR curated interactions for PADI4 Gene

Drugs & Compounds for PADI4 Gene

(10) Drugs for PADI4 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Target 0
Azithromycin Approved Pharma Target, inhibitor 531
Streptomycin Approved, Vet_approved Pharma Target 26
Tetracycline Approved, Vet_approved Pharma Target 137
Ammonia Approved Pharma 0

(3) Additional Compounds for PADI4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PADI4: view

Transcripts for PADI4 Gene

mRNA/cDNA for PADI4 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 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 PADI4

Alternative Splicing Database (ASD) splice patterns (SP) for PADI4 Gene

No ASD Table

Relevant External Links for PADI4 Gene

GeneLoc Exon Structure for
PADI4

Expression for PADI4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PADI4 Gene

mRNA differential expression in normal tissues according to GTEx for PADI4 Gene

This gene is overexpressed in Whole Blood (x47.5).

Protein differential expression in normal tissues from HIPED for PADI4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.4), Neutrophil (18.2), Lavage (7.7), and Saliva (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PADI4 Gene



Protein tissue co-expression partners for PADI4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PADI4

SOURCE GeneReport for Unigene cluster for PADI4 Gene:

Hs.522969

mRNA Expression by UniProt/SwissProt for PADI4 Gene:

Q9UM07-PADI4_HUMAN
Tissue specificity: Expressed in eosinophils and neutrophils, not expressed in peripheral monocytes or lymphocytes.

Evidence on tissue expression from TISSUES for PADI4 Gene

  • Spleen(4.7)
  • Nervous system(4.5)
  • Blood(4.3)
  • Pancreas(4.3)
  • Bone marrow(3.2)
  • Skin(2.3)
  • Lung(2.2)
  • Intestine(2.1)
  • Liver(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with PADI4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PADI4 Gene

Orthologs for PADI4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PADI4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PADI4 30 31
  • 96.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PADI4 30 31
  • 83.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PADI4 30 31
  • 82.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Padi4 30
  • 79.81 (n)
Mouse
(Mus musculus)
Mammalia Padi4 30 17 31
  • 79.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PADI4 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 66 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii padi2 31
  • 45 (a)
OneToMany
Species where no ortholog for PADI4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PADI4 Gene

ENSEMBL:
Gene Tree for PADI4 (if available)
TreeFam:
Gene Tree for PADI4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PADI4: view image

Paralogs for PADI4 Gene

Paralogs for PADI4 Gene

(4) SIMAP similar genes for PADI4 Gene using alignment to 9 proteins:

  • PADI4_HUMAN
  • B1AQ67_HUMAN
  • Q53HY9_HUMAN
  • Q6EVJ1_HUMAN
  • Q6EVJ2_HUMAN
  • Q6EVJ4_HUMAN
  • Q6EVJ5_HUMAN
  • Q6EVJ6_HUMAN
  • Q6EVJ7_HUMAN
genes like me logo Genes that share paralogs with PADI4: view

Variants for PADI4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PADI4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
711266 Benign: not provided 17,331,097(+) T/C MISSENSE_VARIANT
729596 Benign: not provided 17,338,127(+) C/T SYNONYMOUS_VARIANT
774152 Benign: not provided 17,342,393(+) A/G MISSENSE_VARIANT
777323 Benign: not provided 17,308,245(+) G/A MISSENSE_VARIANT
780217 Benign: not provided 17,331,112(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PADI4 Gene

Structural Variations from Database of Genomic Variants (DGV) for PADI4 Gene

Variant ID Type Subtype PubMed ID
dgv128n100 CNV gain 25217958
dgv172n54 CNV loss 21841781
dgv173n54 CNV loss 21841781
dgv174n54 CNV loss 21841781
dgv175n54 CNV loss 21841781
dgv176n54 CNV loss 21841781
dgv23e199 CNV deletion 23128226
dgv26n67 CNV loss 20364138
dgv51n106 CNV deletion 24896259
dgv52n106 CNV deletion 24896259
esv21592 CNV loss 19812545
esv2668971 CNV deletion 23128226
esv2674909 CNV deletion 23128226
esv2853236 CNV deletion 24192839
esv33950 CNV gain+loss 17666407
esv3550565 CNV deletion 23714750
esv3550676 CNV deletion 23714750
esv3550900 CNV deletion 23714750
esv3585365 CNV loss 21293372
esv3585366 CNV gain 21293372
esv3585367 CNV loss 21293372
esv4441 CNV loss 18987735
nsv1003937 CNV loss 25217958
nsv1068605 CNV deletion 25765185
nsv1069104 CNV deletion 25765185
nsv1075256 CNV deletion 25765185
nsv1126979 CNV deletion 24896259
nsv1137736 CNV deletion 24896259
nsv1137737 CNV deletion 24896259
nsv1152088 CNV deletion 26484159
nsv1153189 CNV deletion 26484159
nsv1153728 CNV deletion 26484159
nsv481233 CNV novel sequence insertion 20440878
nsv511142 CNV loss 21212237
nsv511681 CNV loss 21212237
nsv545692 CNV loss 21841781
nsv545694 CNV loss 21841781
nsv545696 CNV gain 21841781
nsv545697 CNV loss 21841781
nsv834291 CNV gain 17160897
nsv958215 CNV deletion 24416366

Variation tolerance for PADI4 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PADI4 Gene

Human Gene Mutation Database (HGMD)
PADI4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PADI4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PADI4 Gene

Disorders for PADI4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PADI4 Gene - From: GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rheumatoid arthritis
  • ra
arthritis
  • inflammatory disorder of joint
palindromic rheumatism
  • hench's syndrome
autoimmune disease
  • autoimmune hypersensitivity disease
cervical polyp
  • cervix adenomatous polyp
- elite association - COSMIC cancer census association via MalaCards
Search PADI4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PADI4_HUMAN
  • Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269 PubMed:12833157}. Note=The gene represented in this entry may be involved in disease pathogenesis. The association to rheumatoid arthritis was initially thought to result from increased citrullination of target proteins (PubMed:12833157). However, variants that have been associated to rheumatoid arthritis (Ser-55, Ala-82 and Ala-112) do not affect the catalytic activity or the citrullination activity of PADI4, suggesting that these variants may affect the mRNA stability rather than the protein (PubMed:21245532). {ECO:0000269 PubMed:12833157, ECO:0000269 PubMed:21245532}.

Additional Disease Information for PADI4

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 PADI4: view

No data available for Genatlas for PADI4 Gene

Publications for PADI4 Gene

  1. High variability of peptidylarginine deiminase 4 (PADI4) in a healthy white population: characterization of six new variants of PADI4 exons 2-4 by a novel haplotype-specific sequencing-based approach. (PMID: 15338034) Hoppe B … Salama A (Journal of molecular medicine (Berlin, Germany) 2004) 3 4 23 41
  2. Molecular characterization of peptidylarginine deiminase in HL-60 cells induced by retinoic acid and 1alpha,25-dihydroxyvitamin D(3). (PMID: 10488123) Nakashima K … Yamada M (The Journal of biological chemistry 1999) 2 3 4 23
  3. PADI4 genotype is not associated with rheumatoid arthritis in a large UK Caucasian population. (PMID: 19470526) Burr ML … Barton A (Annals of the rheumatic diseases 2010) 3 23 41
  4. A functional haplotype of PADI4 gene in rheumatoid arthritis: positive correlation in a French population. (PMID: 19332633) Gandjbakhch F … Solau-Gervais E (The Journal of rheumatology 2009) 3 23 41
  5. [Association of the PADI4 gene polymorphism and HLA-DRB1 shared epitope alleles with rheumatoid arthritis]. (PMID: 19199253) Fan LY … Ma JW (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009) 3 23 41

Products for PADI4 Gene

Sources for PADI4 Gene