Ccdc47 Gene Summary [Mouse]

Enables calcium ion binding activity. Acts upstream of or within several processes, including ER overload response; ERAD pathway; and calcium ion homeostasis. Located in rough endoplasmic reticulum. Is expressed in several structures, including cerebellum external granule cell layer; liver; neural retina; submandibular gland primordium; and yolk sac. Orthologous to human CCDC47 (coiled-coil domain containing 47). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Ccdc47
Official Name
coiled-coil domain containing 47 [Source:MGI Symbol;Acc:MGI:1914413]
Ensembl ID
ENSMUSG00000078622
Bio databases IDs NCBI: 67163 Ensembl: ENSMUSG00000078622
Aliases coiled-coil domain containing 47
Synonyms 2610204L23RIK, asp4, calumin, coiled-coil domain containing 47, D13Mgi22, GK001, MSTP041, RGD1308813, THNS
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Ccdc47 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • PAT complex subunit CCDC47
  • calcium ion binding
  • ribosome binding
  • 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
  • trichohepatoneurodevelopmental syndrome
  • neonatal late-onset sepsis
regulated by
  • RYR1
  • mir-22 (includes others)
  • 144DG11
regulates
role in cell
  • apoptosis
  • cell viability
  • function
  • calcium homeostasis
  • organization

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
  • Endoplasmic Reticulum
  • endoplasmic reticulum membrane
  • nuclear envelope
  • rough endoplasmatic reticulum

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Ccdc47 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • post-embryonic development
  • osteoblast differentiation
  • protein insertion into ER membrane
  • endoplasmic reticulum calcium ion homeostasis
  • protein folding
  • ER overload response

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • rough endoplasmic reticulum membrane
  • membrane
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding
  • protein binding involved in protein folding
  • ribosome binding
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

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