Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

PRDM5

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

What is the official name of the PRDM5 gene?

The official name of this gene is “PR domain containing 5.”

PRDM5 is the gene's official symbol. The PRDM5 gene is also known by other names, listed below.

What is the normal function of the PRDM5 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11107):

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/Q9NQX1):

Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May caused G2/M arrest and apoptosis in cancer cells.

How are changes in the PRDM5 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/Q9NQX1) provides the following information about the PRDM5 gene's known or predicted involvement in human disease.

Brittle cornea syndrome 2 (BCS2): A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints.[1] The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11107) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PRDM5 gene.
  • Brittle cornea syndrome 2[1]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the PRDM5 gene located?

Cytogenetic Location: 4q25-q26

Molecular Location on chromosome 4: base pairs 120,691,914 to 120,922,857

The PRDM5 gene is located on the long (q) arm of chromosome 4 between positions 25 and 26.

The PRDM5 gene is located on the long (q) arm of chromosome 4 between positions 25 and 26.

More precisely, the PRDM5 gene is located from base pair 120,691,914 to base pair 120,922,857 on chromosome 4.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PRDM5?

You and your healthcare professional may find the following resources about PRDM5 helpful.

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

What other names do people use for the PRDM5 gene or gene products?

  • BCS2
  • PFM2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PRDM5?

apoptosis ; cancer ; cell ; connective tissue ; cornea ; differentiation ; DNA ; domain ; extracellular ; extracellular matrix ; gene ; histone ; keratoconus ; methyltransferase ; protein ; rupture ; syndrome ; tissue ; transcription ; transcription factor ; trauma ; zinc finger motifs

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: July 21, 2014