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

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: mouse all
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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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAD2 dysregulation and aberrant protein citrullination feature prominently in reactive astrogliosis and myelin protein aggregation in sporadic ALS.
Title: PAD2 dysregulation and aberrant protein citrullination feature prominently in reactive astrogliosis and myelin protein aggregation in sporadic ALS.
Analysis of the diagnostic and prognostic value of serum PAD2 in patients with sepsis in the intensive care unit.
Title: Analysis of the diagnostic and prognostic value of serum PAD2 in patients with sepsis in the intensive care unit.
Molecular Factors in PAD2 (PADI2) and PAD4 (PADI4) Are Associated with Interstitial Lung Disease Susceptibility in Rheumatoid Arthritis Patients.
Title: Molecular Factors in PAD2 (PADI2) and PAD4 (PADI4) Are Associated with Interstitial Lung Disease Susceptibility in Rheumatoid Arthritis Patients.
Peptidylarginine Deiminase 2 Gene Polymorphisms in Subjects with Periodontitis Predispose to Rheumatoid Arthritis.
Title: Peptidylarginine Deiminase 2 Gene Polymorphisms in Subjects with Periodontitis Predispose to Rheumatoid Arthritis.
Molecular Mechanism of Protein Arginine Deiminase 2: A Study Involving Multiple Microsecond Long Molecular Dynamics Simulations.
Title: Molecular Mechanism of Protein Arginine Deiminase 2: A Study Involving Multiple Microsecond Long Molecular Dynamics Simulations.
Syndecan-2 regulates PAD2 to exert antifibrotic effects on RA-ILD fibroblasts.
Title: Syndecan-2 regulates PAD2 to exert antifibrotic effects on RA-ILD fibroblasts.
The Clinical and Prognostic Significance of Protein Arginine Deiminases 2 and 4 in Colorectal Cancer.
Title: The Clinical and Prognostic Significance of Protein Arginine Deiminases 2 and 4 in Colorectal Cancer.
PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.
Title: PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.
PADI2 Polymorphisms Are Significantly Associated With Rheumatoid Arthritis, Autoantibodies Serologic Status and Joint Damage in Women from Southern Mexico.
Title: PADI2 Polymorphisms Are Significantly Associated With Rheumatoid Arthritis, Autoantibodies Serologic Status and Joint Damage in Women from Southern Mexico.
Citrullination as a novel posttranslational modification of matrix metalloproteinases.
Title: Citrullination as a novel posttranslational modification of matrix metalloproteinases.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74293 (e-PCR)
- UniSTS:40963

G42367 (e-PCR)
- UniSTS:94225

D1S272E (e-PCR)
- UniSTS:48668

D2S2154 (e-PCR)
- UniSTS:26461

PADI2__5811 (e-PCR)
- UniSTS:463762

D1S2590 (e-PCR)
- UniSTS:20404

SHGC-32551 (e-PCR)
- UniSTS:77494

RH28516 (e-PCR)
- UniSTS:87743

SHGC-74290 (e-PCR)
- UniSTS:13265

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

Process	Evidence Code	Pubs
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular estrogen receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of chemokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lymphocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed
involved_in transcription initiation-coupled chromatin remodeling	IMP Inferred from Mutant Phenotype 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 more info	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

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Preferred Names: protein-arginine deiminase type-2

Names: peptidyl arginine deiminase, type II; protein-arginine deiminase type II

NP_031391.2

EC 3.5.3.15

XP_016855637.1

EC 3.5.3.15

XP_047298931.1

EC 3.5.3.15

XP_054188736.1

EC 3.5.3.15

XP_054188737.1

EC 3.5.3.15

XP_054189980.1

EC 3.5.3.15

XP_054189981.1

EC 3.5.3.15

NCBI Reference Sequences (RefSeq)

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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

NG_033958.1 RefSeqGene

Range

5003..57693

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007365.3 → NP_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:287 → 662

PAD; Protein-arginine deiminase (PAD)

pfam08526
Location:1 → 114

PAD_N; Protein-arginine deiminase (PAD) N-terminal domain

pfam08527
Location:116 → 273

PAD_M; Protein-arginine deiminase (PAD) middle domain