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Aliases for CCDC47 Gene

Aliases for CCDC47 Gene

  • Coiled-Coil Domain Containing 47 2 3 5
  • Calumin 2 3
  • Coiled-Coil Domain-Containing Protein 47 3
  • MSTP041 3
  • GK001 3

External Ids for CCDC47 Gene

Previous GeneCards Identifiers for CCDC47 Gene

  • GC17M059177
  • GC17M061822
  • GC17M057190

Summaries for CCDC47 Gene

GeneCards Summary for CCDC47 Gene

CCDC47 (Coiled-Coil Domain Containing 47) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and calcium ion binding. An important paralog of this gene is ENSG00000125695.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC47 Gene

Genomics for CCDC47 Gene

Regulatory Elements for CCDC47 Gene

Enhancers for CCDC47 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F063771 0.2 ENCODE 0.8 +2.2 2244 5.4 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC FTSJ3 CEP95 DDX42 CSH2 POLG2 CCDC47 GC17M063765
GH17F063780 0.2 ENCODE 0.8 -4.4 -4448 1.2 SIX4 PKNOX1 KLF17 FEZF1 RAD21 ARID3A ZBTB48 FOSL2 FOS ETV6 FTSJ3 ENSG00000265982 CCDC47 PIR56411
GH17F063783 0.5 ENCODE 0.4 -9.8 -9791 4.3 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 FTSJ3 DDX42 PSMC5 ENSG00000125695 STRADA CEP95 MAP3K3 PIR56411 CCDC47
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCDC47 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC47 Gene

Chromosome:
17
Start:
63,745,250 bp from pter
End:
63,776,351 bp from pter
Size:
31,102 bases
Orientation:
Minus strand

Genomic View for CCDC47 Gene

Genes around CCDC47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC47 Gene

Proteins for CCDC47 Gene

  • Protein details for CCDC47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A33-CCD47_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 47
    Protein Accession:
    Q96A33
    Secondary Accessions:
    • B2RAS8
    • D3DU20
    • Q96D00
    • Q96JZ7
    • Q9H3E4
    • Q9NRG3

    Protein attributes for CCDC47 Gene

    Size:
    483 amino acids
    Molecular mass:
    55874 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG39292.1; Type=Frameshift; Positions=306; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC47 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC47 Gene

Post-translational modifications for CCDC47 Gene

Other Protein References for CCDC47 Gene

No data available for DME Specific Peptides for CCDC47 Gene

Domains & Families for CCDC47 Gene

Protein Domains for CCDC47 Gene

Suggested Antigen Peptide Sequences for CCDC47 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC47: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC47 Gene

Function for CCDC47 Gene

Gene Ontology (GO) - Molecular Function for CCDC47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 21903422
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with CCDC47: view

Phenotypes for CCDC47 Gene

genes like me logo Genes that share phenotypes with CCDC47: view

Animal Models for CCDC47 Gene

MGI Knock Outs for CCDC47:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC47 Gene

Localization for CCDC47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC47 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC47 Gene COMPARTMENTS Subcellular localization image for CCDC47 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 1
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CCDC47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0016020 membrane IEA,IDA 16210410
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CCDC47: view

Pathways & Interactions for CCDC47 Gene

SuperPathways for CCDC47 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 16210410
GO:0006983 ER overload response IEA --
GO:0007029 endoplasmic reticulum organization IEA --
GO:0009791 post-embryonic development IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IEA --
genes like me logo Genes that share ontologies with CCDC47: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC47 Gene

Transcripts for CCDC47 Gene

mRNA/cDNA for CCDC47 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC47 Gene

Coiled-coil domain containing 47:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC47 Gene

No ASD Table

Relevant External Links for CCDC47 Gene

GeneLoc Exon Structure for
CCDC47
ECgene alternative splicing isoforms for
CCDC47

Expression for CCDC47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC47 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC47 Gene

This gene is overexpressed in Pancreas (10.9) and Nasal epithelium (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC47 Gene



Protein tissue co-expression partners for CCDC47 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC47 Gene:

CCDC47

SOURCE GeneReport for Unigene cluster for CCDC47 Gene:

Hs.202011
genes like me logo Genes that share expression patterns with CCDC47: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCDC47 Gene

Orthologs for CCDC47 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCDC47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC47 34 35
  • 99.93 (n)
dog
(Canis familiaris)
Mammalia CCDC47 34 35
  • 94.69 (n)
cow
(Bos Taurus)
Mammalia CCDC47 34 35
  • 93.51 (n)
mouse
(Mus musculus)
Mammalia Ccdc47 34 16 35
  • 92.13 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc47 34
  • 91.65 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC47 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC47 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC47 34 35
  • 81.84 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC47 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc47 34
  • 79.21 (n)
Str.586 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16389 34
zebrafish
(Danio rerio)
Actinopterygii ccdc47 34 35
  • 74.34 (n)
wufd13e11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1555 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010007 34
  • 51.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17593 34 35
  • 50.95 (n)
worm
(Caenorhabditis elegans)
Secernentea ccdc-47 34 35
  • 50.36 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24330 34
  • 45.59 (n)
rice
(Oryza sativa)
Liliopsida Os05g0432400 34
  • 44.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1616 35
  • 47 (a)
OneToMany
Species where no ortholog for CCDC47 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCDC47 Gene

ENSEMBL:
Gene Tree for CCDC47 (if available)
TreeFam:
Gene Tree for CCDC47 (if available)

Paralogs for CCDC47 Gene

Paralogs for CCDC47 Gene

genes like me logo Genes that share paralogs with CCDC47: view

Variants for CCDC47 Gene

Sequence variations from dbSNP and Humsavar for CCDC47 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10632876 -- 63,745,036(+) CTTAA(-/CTCAA)GAGGT downstream-variant-500B
rs10643408 -- 63,760,062(+) GTCTC(-/AA/AAA/AAAA)AAAAA intron-variant
rs111268134 -- 63,766,445(+) TGAGA(C/T)GGAGT intron-variant
rs111522542 -- 63,762,856(+) CATTA(C/T)ACTAA intron-variant
rs111610049 -- 63,761,229(+) ACTTA(A/C)CCTCA splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC47 Gene

Variant ID Type Subtype PubMed ID
esv2266185 CNV deletion 18987734
nsv1138565 CNV deletion 24896259
nsv833510 CNV loss 17160897

Variation tolerance for CCDC47 Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC47 Gene

Human Gene Mutation Database (HGMD)
CCDC47
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC47 Gene

Disorders for CCDC47 Gene

Relevant External Links for CCDC47

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC47

No disorders were found for CCDC47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC47 Gene

Publications for CCDC47 Gene

  1. Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity. (PMID: 25009997) Yamamoto S. … Kakizawa S. (Dev. Biol. 2014) 2 3 64
  2. Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum. (PMID: 17204322) Zhang M. … Takeshima H. (Cell Calcium 2007) 2 3 64
  3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CCDC47 Gene

Sources for CCDC47 Gene

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