PRR12 Gene Summary [Human]

This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
PRR12
Official Name
proline rich 12 [Source:HGNC Symbol;Acc:HGNC:29217]
Ensembl ID
ENSG00000126464
Bio databases IDs NCBI: 57479 Ensembl: ENSG00000126464
Aliases proline rich 12
Synonyms 6720469B10, KIAA1205, NOC, proline rich 12, RGD1309896
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRR12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Domain of unknown function (DUF4211)

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neuroocular syndrome 1
  • neurodevelopmental disorder
  • hereditary disorder
  • mental retardation
  • complex microphthalmia
  • skin neoplasm
  • skin neoplasia
  • Hodgkin lymphoma
  • Hodgkin disease
  • myositis
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PRR12 gene, providing context for its role in the cell.

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • postsynaptic density
  • neuron projection

Gene-Specific Assays for Results You Can Trust

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