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

Gene ID: 11240, updated on 20-Apr-2020

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
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

Genomic context

See PADI2 in Genome Data Viewer
Location:
1p36.13
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (17066761..17119453, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17393256..17445948, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase cation transporting 13A2 Neighboring gene succinate dehydrogenase complex iron sulfur subunit B Neighboring gene uncharacterized LOC105376808 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

Homology

Clone Names

  • KIAA0994

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
estrogen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein-arginine deiminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-arginine deiminase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

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

NCBI Reference Sequences (RefSeq)

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
    Q9Y2J8
    UniProtKB/TrEMBL
    A0A024RA98
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    17066761..17119453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000148.2XP_016855637.1  protein-arginine deiminase type-2 isoform X1

RNA

  1. XR_001736944.1 RNA Sequence

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