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PADI4 Gene

protein-coding   GIFtS: 62
GCID: GC01P017634

Peptidyl Arginine Deiminase, Type IV

(Previous names: peptidyl arginine deiminase, type V)
(Previous symbol: PADI5)
  See PADI4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Peptidyl Arginine Deiminase, Type IV1 2     PAD2 5
PADI51 2 3 5     PAD42
Peptidyl Arginine Deiminase, Type V1 2     PDI42
Protein-Arginine Deiminase Type IV2 3     PADI-H Protein2
PDI52 3     Protein-Arginine Deiminase Type-42
HL-60 PAD2 3     Peptidylarginine Deiminase IV3
EC 3.5.3.153 8     

External Ids:    HGNC: 183681   Entrez Gene: 235692   Ensembl: ENSG000001593397   OMIM: 6053475   UniProtKB: Q9UM073   

Export aliases for PADI4 gene to outside databases

Previous GC identifers: GC00U991184 GC01P016675 GC01P017015 GC01P017379 GC01P017507 GC01P015882


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, type IV) is a protein-coding gene. Diseases associated with PADI4 include rheumatoid arthritis, and palindromic rheumatism. GO annotations related to this gene include protein-arginine deiminase activity and calcium ion binding. An important paralog of this gene is PADI2.

UniProtKB/Swiss-Prot: PADI4_HUMAN, Q9UM07
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

Gene Wiki entry for PADI4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PADI4 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPADI4 promoter sequence
   Search Chromatin IP Primers for PADI4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PADI4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

PADI4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PADI4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P017634:  view genomic region     (about GC identifiers)

Start:
17,634,690 bp from pter      End:
17,690,499 bp from pter
Size:
55,810 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PADI4_HUMAN, Q9UM07 (See protein sequence)
Recommended Name: Protein-arginine deiminase type-4  
Size: 663 amino acids; 74079 Da
Cofactor: Binds 5 calcium ions per subunit
Selected PDB 3D structures from and Proteopedia for PADI4 (see all 12):
1WD8 (3D)        1WD9 (3D)        1WDA (3D)        2DEW (3D)        2DEX (3D)        2DEY (3D)    
Secondary accessions: A8K392 B2RBW0 Q5VTZ8 Q70SX4

Explore the universe of human proteins at neXtProt for PADI4: NX_Q9UM07

Explore proteomics data for PADI4 at MOPED

Post-translational modifications: 

  • Autocitrullination at Arg-372 and Arg-374 inactivates the enzyme1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PADI4 (Q9UM07) (see all 10)
     VSPPVTV  APWIMTP  PTHAVCV  VNMLVLGK 


    See PADI4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036519.2  
    ENSEMBL proteins: 
     ENSP00000364602   ENSP00000364597  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PADI: Peptidyl arginine deiminases

    Selected InterPro protein domains (see all 6):
     IPR013733 Prot_Arg_deaminase_cen_dom
     IPR013732 PAD_N
     IPR008972 Cupredoxin
     IPR004303 PAD
     IPR016296 Protein-arginine_deiminase_sub

    Graphical View of Domain Structure for InterPro Entry Q9UM07

    ProtoNet protein and cluster: Q9UM07

    1 Blocks protein domain: IPB004303 Protein-arginine deiminase

    UniProtKB/Swiss-Prot: PADI4_HUMAN, Q9UM07
    Similarity: Belongs to the protein arginine deiminase family


    Find genes that share domains with PADI4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PADI4_HUMAN, Q9UM07
    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
    Catalytic activity: Protein L-arginine + H(2)O = protein L-citrulline + NH(3)
    Enzyme regulation: 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)
    Biophysicochemical properties: Kinetic parameters: KM=0.055 mM for fibrinogen; KM=0.064 mM for filaggrin;
    Vmax=33.2 umol/h/mg enzyme toward fibrinogen; Vmax=8.0 umol/h/mg enzyme toward filaggrin; pH dependence: Optimum
    pH is 6.5-9.0;

         Enzyme Number (IUBMB): EC 3.5.3.151 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004668protein-arginine deiminase activity IDA15339660
    GO:0005509calcium ion binding IDA16567635
    GO:0005515protein binding IPI--
    GO:0016990arginine deiminase activity IDA--
         
    Find genes that share ontologies with PADI4           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Padi4):
     growth/size/body  hematopoietic system  immune system  mortality/aging  normal 

    Find genes that share phenotypes with PADI4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PADI4: Padi4tm1.1Ywan Padi4tm1.1Kmow

       genOway: Develop your customized and physiologically relevant rodent model for PADI4

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PADI4_HUMAN, Q9UM07: Cytoplasm. Nucleus. Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils and
    neutrophils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15339660
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with PADI4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PADI4 About    
    See pathways by source

    SuperPathContained pathways About
    1protein citrullination
    protein citrullination


    1 BioSystems Pathway for PADI4
        protein citrullination



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PADI4
    Interactions:

        GeneGlobe Interaction Network for PADI4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for PADI4 (Q9UM073 ENSP000003645974) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly ISS--
    GO:0006338chromatin remodeling ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006464cellular protein modification process TAS10488123

    Find genes that share ontologies with PADI4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for PADI4

    5 HMDB Compounds for PADI4    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    CalciumCa (see all 2)7440-70-2--
    Citrulline(2S)-2-amino-5-(carbamoylamino)pentanoic acid (see all 55)372-75-8--
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for PADI4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Citrulline2-Amino-5-uredovaleric acid (see all 8)372-75-8target--15345777 16271291 16412378 16146736 16355400
    N-[(1S)-1-(AMINOCARBONYL)-4-(ETHANIMIDOYLAMINO)BUTYL]BENZAMIDE-- --target--10592235

    6 Novoseek inferred chemical compound relationships for PADI4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrulline 91 35 10027703 (2), 16539813 (2), 12586539 (1), 17216583 (1) (see all 27)
    acpa 83.8 2 18476880 (2)
    arginine 74.6 33 15832289 (2), 15339660 (2), 19246161 (2), 12586539 (1) (see all 29)
    baee 71.7 3 11017707 (2)
    fibrinogen 26.3 2 16892136 (1), 20450789 (1)
    calcium 11.2 4 12586539 (1), 16892136 (1), 15625577 (1), 19004619 (1)



    Find genes that share compounds with PADI4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PADI4 gene: 
    NM_012387.2  

    Unigene Cluster for PADI4:

    Peptidyl arginine deiminase, type IV
    Hs.522969  [show with all ESTs]
    Unigene Representative Sequence: BC025718
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375453 ENST00000375448(uc009vpc.2 uc001baj.2) ENST00000468945
    ENST00000487048 ENST00000467001
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    Additional mRNA sequence: 

    AB017919.1 AF229067.1 AK290507.1 AK309637.1 AK314839.1 BC025718.1 

    6 DOTS entries:

    DT.200682  DT.92424921  DT.91944157  DT.95154884  DT.95097226  DT.95218477 

    Selected AceView cDNA sequences (see all 56):

    BX280830 BF942697 CB241171 BM676574 BM713957 BC025718 BX492994 BI836729 
    BI020543 CB146134 BI910127 BI752751 BI905950 NM_012387 BI021411 BI019938 
    AI766115 BI025762 BU600065 AA682801 BX493079 BU502414 AW467231 AB017919 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PADI4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCCCTGAG
    PADI4 Expression
    About this image


    PADI4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 8 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Peripheral Blood Monocytes (PB CD14+)   
             neutrophils   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             bone marrow   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Umbilical Cord (Extraembryonic Tissues)
             Cord Blood Monocytes (CD14+)   
    PADI4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PADI4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522969

    UniProtKB/Swiss-Prot: PADI4_HUMAN, Q9UM07
    Tissue specificity: Expressed in eosinophils and neutrophils, not expressed in peripheral monocytes or lymphocytes

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PADI4 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Padi41 , 5 peptidyl arginine deiminase, type IV1, 5 79.81(n)1
    73.56(a)1
      4 (72.34 cM)5
    186021  NM_011061.21  NP_035191.21 
     1407458655 
    zebrafish
    (Danio rerio)
    Actinopterygii padi26
    peptidyl arginine deiminase, type II
    45(a)
    1 → many
    6(47784349-47806450) ENSDARG00000044167


    ENSEMBL Gene Tree for PADI4 (if available)
    TreeFam Gene Tree for PADI4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PADI4 gene
    PADI22  PADI12  PADI32  
    4 SIMAP similar genes for PADI4 using alignment to 9 protein entries:     PADI4_HUMAN (see all proteins):
    PADI1    PADI3    PADI6    PADI2

    Find genes that share paralogs with PADI4           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PADI4
    PGOHUM00000251109


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PADI4 (see all 1683)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1912609361,2
    --15878986(+) CAAACA/CAAAAG 1 -- us2k10--------
    rs1388985851,2
    --15879021(+) CCACTG/TTGTTC 1 -- us2k10--------
    rs1841840951,2
    --15879031(+) CACAGC/TGTATC 1 -- us2k10--------
    rs1885603791,2
    --15879226(+) TTGGGA/GTAGAG 1 -- us2k10--------
    rs750033931,2
    F--15879233(+) AGAGGC/ACAGCC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1489727261,2
    --15879415(+) TCATGA/CGGTCA 1 -- us2k10--------
    rs1140888771,2
    C,F--15879473(+) ATGCGT/ACAGAA 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs168251141,2
    C,F--15879482(+) AACGTC/TGGACC 1 -- us2k14Minor allele frequency- T:0.02NA WA 258
    rs1471205301,2
    --15879509(+) TGCTGG/TTACAG 1 -- us2k10--------
    rs115795041,2
    C,F,A,H--15879522(+) GATAAA/GTTTTG 1 -- us2k124Minor allele frequency- G:0.23NS EA NA WA CSA 2487

    HapMap Linkage Disequilibrium report for PADI4 (17634690 - 17690499 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PADI4 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4441CNV Deletion18987735
    esv2744586CNV Deletion23290073
    dgv23e199CNV Deletion23128226
    esv2744574CNV Deletion23290073
    esv2674909CNV Deletion23128226
    esv2668971CNV Deletion23128226
    esv2744563CNV Deletion23290073
    nsv511142CNV Loss21212237
    esv21592CNV Loss19812545
    nsv511681CNV Loss21212237

    Human Gene Mutation Database (HGMD): PADI4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PADI4
    DNA2.0 Custom Variant and Variant Library Synthesis for PADI4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605347   
    OMIM disorders: 180300  
    UniProtKB/Swiss-Prot: PADI4_HUMAN, Q9UM07
  • 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. 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)

  • 2 diseases for PADI4:    
    About MalaCards
    rheumatoid arthritis    palindromic rheumatism

    1 disease from the University of Copenhagen DISEASES database for PADI4:
    Rheumatoid arthritis

    Find genes that share disorders with PADI4           About GenesLikeMe

    10 Novoseek inferred disease relationships for PADI4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rheumatoid arthritis 80.4 41 15485997 (4), 17216583 (2), 15077293 (2), 15814578 (2) (see all 26)
    rheumatic diseases 57.3 2 17968335 (1), 16134727 (1)
    autoimmunity 50.7 2 18645041 (2)
    autoimmune diseases 46.2 2 17868046 (1), 19892302 (1)
    multiple sclerosis 36.2 5 16828881 (2), 19540364 (1), 15080264 (1), 18476880 (1)
    lupus erythematosus systemic 35.7 2 17968335 (1), 15080264 (1)
    osteoarthritis 30.5 2 17968929 (1)
    inflammation 28.8 4 16245073 (2), 15814578 (1), 18645041 (1)
    arthritis 4.84 3 17968929 (2)
    leukemia 0 3 17216583 (1), 16502257 (1)

    Genetic Association Database (GAD): PADI4
    Human Genome Epidemiology (HuGE) Navigator: PADI4 (41 documents)

    Export disorders for PADI4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PADI4 gene, integrated from 10 sources (see all 164):
    (articles sorted by number of sources associating them with PADI4)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 15338034)1, 2, 4, 9 Hoppe B....Salama A. (J. Mol. Med. 2004)
    2. Molecular characterization of peptidylarginine deiminase in HL-60 cells induced by retinoic acid and 1alpha,25-dihydroxyvitamin D(3). (PubMed id 10488123)1, 2, 3, 9 Nakashima K.... Yamada M. (J. Biol. Chem. 1999)
    3. Human PAD4 regulates histone arginine methylation levels via demethylimination. (PubMed id 15345777)1, 2, 7 Wang Y.... Coonrod S.A. (Science 2004)
    4. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. (PubMed id 12833157)1, 2, 4 Suzuki A.... Yamamoto K. (Nat. Genet. 2003)
    5. PADI4 polymorphisms and rheumatoid arthritis susceptibility: a meta-analysis. (PubMed id 17265154)1, 4, 9 Lee Y.H....Song G.G. (Rheumatol. Int. 2007)
    6. Genetic and genomic studies of PADI4 in rheumatoid arthritis. (PubMed id 15814578)1, 4, 9 Harney S.M....Brown M.A. (Rheumatology (Oxford) 2005)
    7. Haplotypes of PADI4 susceptible to rheumatoid arthritis are also associated with ulcerative colitis in the Japanese population. (PubMed id 17980669)1, 4, 9 Chen C.C....Tsukamoto K. (Clin. Immunol. 2008)
    8. A functional haplotype of PADI4 gene in rheumatoid arthritis: positive correlation in a French population. (PubMed id 19332633)1, 4, 9 Gandjbakhch F....Solau-Gervais E. (J. Rheumatol. 2009)
    9. Association of anti-cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis. (PubMed id 17469103)1, 4, 9 Cha S....Bae S.C. (Arthritis Rheum. 2007)
    10. A functional haplotype of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Koreans. (PubMed id 16385500)1, 4, 9 Kang C.P....Bae S.C. (Arthritis Rheum. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23569 HGNC: 18368 AceView: PADI4 Ensembl:ENSG00000159339 euGenes: HUgn23569
    ECgene: PADI4 H-InvDB: PADI4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PADI4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PADI4 gene:
    Search GeneIP for patents involving PADI4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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