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The information on this page was automatically extracted from online scientific databases.

What is the official name of the PADI4 gene?

The official name of this gene is “peptidyl arginine deiminase, type IV.”

PADI4 is the gene's official symbol. The PADI4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PADI4 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProt (PADI4_HUMAN)This link leads to a site outside Genetics Home Reference.:

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.

How are changes in the PADI4 gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the PADI4 gene.
UniProt (PADI4_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the PADI4 gene's known or predicted involvement in human disease.

Rheumatoid arthritis (RA): 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. 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).

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PADI4 gene.
  • Rheumatoid arthritis
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the PADI4 gene and its association with health conditions.

Where is the PADI4 gene located?

Cytogenetic Location: 1p36.13

Molecular Location on chromosome 1: base pairs 17,308,195 to 17,364,004

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The PADI4 gene is located on the short (p) arm of chromosome 1 at position 36.13.

The PADI4 gene is located on the short (p) arm of chromosome 1 at position 36.13.

More precisely, the PADI4 gene is located from base pair 17,308,195 to base pair 17,364,004 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PADI4?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PADI4 gene or gene products?

  • PAD
  • PAD4
  • PADI5
  • PDI4
  • PDI5

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PADI4?

Ala ; Arg ; arginine ; arthritis ; atrophy ; autoimmune ; catalytic ; cell ; chromatin ; collagen ; gene ; histone ; immune response ; infection ; inflammation ; macrophage ; mediating ; methylation ; mRNA ; neutrophils ; protein ; ser ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Published: February 8, 2016