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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. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is ENSG00000125695.

Additional gene information for CCDC47 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for CCDC47 Gene

Promoters and enhancers for CCDC47 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I063771 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.2 2243 5.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 DDX42 CCDC47 GC17M063765 FTSJ3 CEP95 POLG2 SMARCD2 DDX5 ENSG00000281311 CSH2
GH17I063780 Enhancer 1 ENCODE dbSUPER 0.8 -4.4 -4447 1.2 PKNOX1 NEUROD1 KLF17 FEZF1 FOS ZNF398 ZEB2 GLIS1 PRDM1 WT1 FTSJ3 ENSG00000265982 SMARCD2 DDX5 POLG2 ENSG00000281311 DDX42 CEP95 ERN1 CCDC47
GH17I063770 Enhancer 1.1 ENCODE dbSUPER 0.4 +6.0 5965 0.2 HDGF ATF1 ARNT NEUROD1 SIN3A TCF12 ELK1 ATF7 NCOA1 ZNF592 GC17M063765 DDX42 CCDC47 GC17P063754
GH17I063783 Enhancer 0.9 ENCODE dbSUPER 0.4 -9.8 -9791 4.3 PAF1 SOX13 KLF1 SAP130 FOXA3 ARID4B RARA ZGPAT JUND PRDM6 PIR56411 FTSJ3 PSMC5 ENSG00000125695 STRADA MAP3K3 CCDC47 DDX42
GH17I063760 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.4 +14.6 14623 1.5 PAF1 SIX4 EGR1 COPS2 CEBPG EGR2 FTSJ3 PSMC5 LIMD2 SMARCD2 DDX42 GC17P063754 CCDC47
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC47 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC47 gene promoter:

Genomic Locations for CCDC47 Gene

Genomic Locations for CCDC47 Gene
chr17:63,745,250-63,776,351
(GRCh38/hg38)
Size:
31,102 bases
Orientation:
Minus strand
chr17:61,822,610-61,853,711
(GRCh37/hg19)

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

Gene Families for CCDC47 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 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:0003723 RNA binding HDA,IDA 22658674
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 21903422
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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC47 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0016020 membrane HDA,IEA 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 HDA 16210410
GO:0006983 ER overload response IEA --
GO:0007029 endoplasmic reticulum organization IEA --
GO:0009791 post-embryonic development IEA --
GO:0030433 ubiquitin-dependent ERAD pathway 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

Drugs & Compounds for CCDC47 Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for CCDC47 Gene

  • Heart(4.4)
  • Liver(4.4)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CCDC47: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.93 (n)
dog
(Canis familiaris)
Mammalia CCDC47 33 34
  • 94.69 (n)
cow
(Bos Taurus)
Mammalia CCDC47 33 34
  • 93.51 (n)
mouse
(Mus musculus)
Mammalia Ccdc47 33 16 34
  • 92.13 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc47 33
  • 91.65 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC47 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC47 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC47 33 34
  • 81.84 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC47 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc47 33
  • 79.21 (n)
Str.586 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16389 33
zebrafish
(Danio rerio)
Actinopterygii ccdc47 33 34
  • 74.34 (n)
wufd13e11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1555 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010007 33
  • 51.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17593 33 34
  • 50.95 (n)
worm
(Caenorhabditis elegans)
Secernentea ccdc-47 33 34
  • 50.36 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24330 33
  • 45.59 (n)
rice
(Oryza sativa)
Liliopsida Os05g0432400 33
  • 44.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1616 34
  • 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 Variation AA Info Type
rs1000152938 -- 63,748,883(-) G/A intron_variant
rs1000180475 -- 63,770,575(-) T/A intron_variant
rs1000222400 -- 63,750,698(-) C/G intron_variant
rs1000245500 -- 63,762,294(-) TTTTTTTT/TTTTTTTTT intron_variant
rs1000319456 -- 63,761,997(-) A/G intron_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)

Additional Variant Information 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

Additional Disease Information for 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 (Developmental biology 2014) 2 3 58
  2. Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum. (PMID: 17204322) Zhang M … Takeshima H (Cell calcium 2007) 2 3 58
  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 research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for CCDC47 Gene

Sources for CCDC47 Gene

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