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Ccdc47
Gene Detail
Symbol

Name
ID
Ccdc47
coiled-coil domain containing 47
MGI:1914413
Synonyms
2610204L23Rik, asp4, calumin
Feature Type
protein coding gene
Genetic Map
Chromosome 11
68.89 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:106197408-106216344 bp, - strand
From VEGA annotation of GRCm38

  18937 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41351  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CCDC47
Gene Tree: Ccdc47

Human
homologs
CCDC47, coiled-coil domain containing 47
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 57003
neXtProt AC: NX_Q96A33

Human Synonyms: GK001, MSTP041

Human Chr (Location): 17q23.3; chr17:63745250-63773728 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(18) : Gene trapped(15) Targeted(3)
Incidental mutations (data from APF )
 
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.
 
Interactions
Ccdc47 interacts with 390 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process calcium ion homeostasis, embryo development, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function calcium ion binding, poly(A) RNA binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (24)    Tissues (11)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 24
cDNA source data(176)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ccdc47    NEW 
Molecular
reagents
All nucleic(177) cDNA(177)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000003221 (Evidence)
Ensembl Gene Model ENSMUSG00000078622 (Evidence)
Entrez Gene 67163 (Evidence)
UniGene 22109
DFCI TC1680499, TC1575368
NIA Mouse Gene Index U270058
Consensus CDS Project CCDS25551.1
International Mouse Phenotyping Consortium Status Ccdc47
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003221 VEGA Gene Model | MGI Sequence Detail 18937 C57BL/6J ±  kb
transcript OTTMUST00000006685 VEGA | MGI Sequence Detail 5193 Not Applicable 
polypeptide OTTMUSP00000003177 VEGA | MGI Sequence Detail 483 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(2) UniProt(4)
Polymorphisms
SNPs within 2kb(80 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR012879 Protein of unknown function DUF1682
Protein Ontology PR:000031282 coiled-coil domain-containing protein 47
References
(Earliest) J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
(Latest) J:215393 Yamamoto S, et al., Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity. Dev Biol. 2014 Sep 1;393(1):33-43
All references(35)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory