WDR12 Gene Summary [Human]

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]

Details

Type
Protein Coding
Official Symbol
WDR12
Official Name
WD repeat domain 12 [Source:HGNC Symbol;Acc:HGNC:14098]
Ensembl ID
ENSG00000138442
Bio databases IDs NCBI: 55759 Ensembl: ENSG00000138442
Aliases WD repeat domain 12
Synonyms 4933402C23Rik, WD repeat domain 12, YTM1, Ytm1p
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 WDR12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • NLE (NUC135) domain
  • WD40 repeats
  • WD domain, G-beta repeat
  • WD40
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Alzheimer disease
  • headache
  • myocardial infarction
  • non-small cell lung cancer
  • coronary artery disease
  • migraines
  • hemolytic anemia
  • non-small cell lung carcinoma
  • small vessel disease stroke
  • suicide attempt
regulates
  • RNR
role in cell
  • proliferation
  • cell cycle progression
  • processing in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • pre-ribosome
  • Nucleus
  • nucleoplasm
  • nucleoli

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human WDR12 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
  • Notch signaling pathway
  • ribosomal large subunit biogenesis
  • regulation of cell cycle
  • maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)

Cellular Component

Where in the cell the gene product is active
  • PeBoW complex
  • nucleolus
  • preribosome, large subunit precursor
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • ribonucleoprotein complex binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.