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    PADI2 peptidyl arginine deiminase 2 [ Homo sapiens (human) ]

    Gene ID: 11240, updated on 5-Mar-2024

    Summary

    Official Symbol
    PADI2provided by HGNC
    Official Full Name
    peptidyl arginine deiminase 2provided by HGNC
    Primary source
    HGNC:HGNC:18341
    See related
    Ensembl:ENSG00000117115 MIM:607935; AllianceGenome:HGNC:18341
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAD2; PDI2; PAD-H19
    Summary
    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]
    Expression
    Biased expression in colon (RPKM 47.2), brain (RPKM 33.8) and 6 other tissues See more
    Orthologs
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    Genomic context

    Location:
    1p36.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17066761..17119451, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16877198..16929905, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17393256..17445946, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17319735-17320236 Neighboring gene ATPase cation transporting 13A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:17342294-17342828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17342829-17343364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17356477-17356976 Neighboring gene succinate dehydrogenase complex iron sulfur subunit B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17412349-17412850 Neighboring gene uncharacterized LOC124903861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17446537-17447071 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:17448488-17448671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 341 Neighboring gene uncharacterized LOC105376808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17519557-17520058 Neighboring gene long intergenic non-protein coding RNA 2783

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0994

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3R26 arginine deiminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone arginine deiminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nuclear estrogen receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-arginine deiminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of euchromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protein-arginine deiminase type-2
    Names
    peptidyl arginine deiminase, type II
    protein-arginine deiminase type II
    NP_031391.2
    XP_016855637.1
    XP_047298931.1
    XP_054188736.1
    XP_054188737.1
    XP_054189980.1
    XP_054189981.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033958.1 RefSeqGene

      Range
      5003..57693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007365.3NP_031391.2  protein-arginine deiminase type-2

      See identical proteins and their annotated locations for NP_031391.2

      Status: REVIEWED

      Source sequence(s)
      AB023211, AB030176, AL049569
      Consensus CDS
      CCDS177.1
      UniProtKB/Swiss-Prot
      Q96DA7, Q9UPN2, Q9Y2J8
      UniProtKB/TrEMBL
      B4DIU3
      Related
      ENSP00000364635.4, ENST00000375486.9
      Conserved Domains (3) summary
      pfam03068
      Location:287662
      PAD; Protein-arginine deiminase (PAD)
      pfam08526
      Location:1114
      PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
      pfam08527
      Location:116273
      PAD_M; Protein-arginine deiminase (PAD) middle domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      17066761..17119451 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000148.3XP_016855637.1  protein-arginine deiminase type-2 isoform X2

    2. XM_047442975.1XP_047298931.1  protein-arginine deiminase type-2 isoform X1

      Related
      ENSP00000364630.1, ENST00000375481.1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      1481961..1534651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332762.1XP_054188737.1  protein-arginine deiminase type-2 isoform X2

    2. XM_054332761.1XP_054188736.1  protein-arginine deiminase type-2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      16877198..16929905 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334006.1XP_054189981.1  protein-arginine deiminase type-2 isoform X2

    2. XM_054334005.1XP_054189980.1  protein-arginine deiminase type-2 isoform X1