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Protein Coding Gene : Ccdc47 coiled-coil domain containing 47

Primary Identifier  MGI:1914413 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  67163
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

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).
PHENOTYPE: More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis. [provided by MGI curators]
  • synonyms:
  • calumin,
  • RIKEN cDNA 2610204L23 gene,
  • 2610204L23Rik,
  • Ccdc47,
  • coiled-coil domain containing 47,
  • asp4

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Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

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Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

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Gene --> Expression annotations

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Disease

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