C12orf43 Gene Summary [Human]

Predicted to be involved in Spemann organizer formation and negative regulation of Wnt signaling pathway. Predicted to be located in nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
C12orf43
Official Name
chromosome 12 open reading frame 43 [Source:HGNC Symbol;Acc:HGNC:25719]
Ensembl ID
ENSG00000157895
Bio databases IDs NCBI: 64897 Ensembl: ENSG00000157895
Aliases chromosome 12 open reading frame 43
Synonyms 2210016L21Rik, C12h12orf43, C12orf43l, chromosome 12 open reading frame 43, Custos, RGD1311899, RIKEN cDNA 2210016L21 gene, similar to human chromosome 12 open reading frame 43
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 C12orf43 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • 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
  • schizophrenia
  • coronary artery disease
regulated by
  • levodopa
  • hydroxypropyl-beta-cyclodextrin

Subcellular Expression

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human C12orf43 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • Wnt receptor signaling pathway
  • negative regulation of Wnt receptor signaling pathway
  • Spemann organizer formation

Cellular Component

Where in the cell the gene product is active
  • nuclear envelope

Molecular Function

What the gene product does at the molecular level
  • protein 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.