PRDM5

PR domain 5

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

From NCBI Gene:

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:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Brittle cornea syndrome 2

From UniProt:

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. [MIM:614170]

Cytogenetic Location: 4q27, which is the long (q) arm of chromosome 4 at position 27

Molecular Location: base pairs 120,684,907 to 120,922,866 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q27, which is the long (q) arm of chromosome 4 at position 27
  • BCS2
  • PFM2