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Aliases for CCDC117 Gene

Aliases for CCDC117 Gene

  • Coiled-Coil Domain Containing 117 2 3 5
  • Coiled-Coil Domain-Containing Protein 117 3
  • DJ366L4.1 3

External Ids for CCDC117 Gene

Previous GeneCards Identifiers for CCDC117 Gene

  • GC22P027498
  • GC22P029168
  • GC22P012133

Summaries for CCDC117 Gene

GeneCards Summary for CCDC117 Gene

CCDC117 (Coiled-Coil Domain Containing 117) is a Protein Coding gene.

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 CCDC117 Gene

Genomics for CCDC117 Gene

Regulatory Elements for CCDC117 Gene

Enhancers for CCDC117 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
GH22F029028 1.7 FANTOM5 Ensembl ENCODE 15 +258.6 258557 4.8 MLX ARID4B SIN3A YY1 FOS ZNF263 SP3 SP5 REST KAT8 C22orf31 CCDC117 KREMEN1 ZNRF3 ENSG00000226471 XBP1 ENSG00000226772 RNU6-810P ZNRF3-AS1 ASCC2
GH22F028807 1.8 FANTOM5 Ensembl ENCODE 13.3 +43.6 43598 18.1 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CCDC117 C22orf31 ZNRF3 ENSG00000272858 XBP1 HSCB TTC28 CHEK2 EMID1 GC22M028836
GH22F028740 1.1 ENCODE 16.6 -30.3 -30302 2.8 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YBX1 FEZF1 DMAP1 YY1 ZNF207 CCDC117 ENSG00000272858 ZNRF3 CHEK2 HSCB
GH22F029070 1.4 FANTOM5 ENCODE 10.1 +300.5 300471 4.8 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF121 GLIS2 KREMEN1 ENSG00000226772 CCDC117 EMID1 XBP1 C22orf31
GH22F028916 1.3 Ensembl ENCODE 10.5 +145.5 145534 3.7 MLX WRNIP1 ZFP64 ARID4B ZNF48 GLIS2 ZNF263 SP5 PPARG KAT8 ZNRF3 C22orf31 CCDC117 CHEK2 HSCB GC22P028904 ZNRF3-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC117 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC117 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084923 627 2200 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS

Genomic Location for CCDC117 Gene

Chromosome:
22
Start:
28,772,674 bp from pter
End:
28,789,301 bp from pter
Size:
16,628 bases
Orientation:
Plus strand

Genomic View for CCDC117 Gene

Genes around CCDC117 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC117 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC117 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC117 Gene

Proteins for CCDC117 Gene

  • Protein details for CCDC117 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWD4-CC117_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 117
    Protein Accession:
    Q8IWD4
    Secondary Accessions:
    • A8K0F1
    • B7Z2V1
    • B7Z860
    • Q6ICA7
    • Q8N278

    Protein attributes for CCDC117 Gene

    Size:
    279 amino acids
    Molecular mass:
    30541 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC117 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC117 Gene

Post-translational modifications for CCDC117 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC117 Gene

Domains & Families for CCDC117 Gene

Protein Domains for CCDC117 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC117 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC117: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC117 Gene

Function for CCDC117 Gene

Gene Ontology (GO) - Molecular Function for CCDC117 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19875381
genes like me logo Genes that share ontologies with CCDC117: view
genes like me logo Genes that share phenotypes with CCDC117: view

Animal Model Products

miRNA for CCDC117 Gene

miRTarBase miRNAs that target CCDC117

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC117 Gene

Localization for CCDC117 Gene

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 CCDC117 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC117 Gene

Pathways & Interactions for CCDC117 Gene

SuperPathways for CCDC117 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC117 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC117 Gene

Transcripts for CCDC117 Gene

Unigene Clusters for CCDC117 Gene

Coiled-coil domain containing 117:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC117 Gene

No ASD Table

Relevant External Links for CCDC117 Gene

GeneLoc Exon Structure for
CCDC117
ECgene alternative splicing isoforms for
CCDC117

Expression for CCDC117 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC117 Gene

Protein differential expression in normal tissues from HIPED for CCDC117 Gene

This gene is overexpressed in Adrenal (26.0), Peripheral blood mononuclear cells (24.6), and Fetal ovary (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC117 Gene



NURSA nuclear receptor signaling pathways regulating expression of CCDC117 Gene:

CCDC117

SOURCE GeneReport for Unigene cluster for CCDC117 Gene:

Hs.406460
genes like me logo Genes that share expression patterns with CCDC117: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CCDC117 Gene

Orthologs for CCDC117 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC117 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC117 34 35
  • 98.81 (n)
dog
(Canis familiaris)
Mammalia CCDC117 34 35
  • 90.97 (n)
cow
(Bos Taurus)
Mammalia CCDC117 34 35
  • 90.89 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc117 34
  • 83.75 (n)
mouse
(Mus musculus)
Mammalia Ccdc117 34 16 35
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC117 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC117 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC117 34 35
  • 68.15 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc117 34
  • 52.45 (n)
zebrafish
(Danio rerio)
Actinopterygii CCDC117 35
  • 24 (a)
OneToOne
Species where no ortholog for CCDC117 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC117 Gene

ENSEMBL:
Gene Tree for CCDC117 (if available)
TreeFam:
Gene Tree for CCDC117 (if available)

Paralogs for CCDC117 Gene

Pseudogenes.org Pseudogenes for CCDC117 Gene

genes like me logo Genes that share paralogs with CCDC117: view

No data available for Paralogs for CCDC117 Gene

Variants for CCDC117 Gene

Sequence variations from dbSNP and Humsavar for CCDC117 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs111244676 -- 28,781,647(+) CACCC(A/G)GCCTG intron-variant
rs111421002 -- 28,781,488(+) TGGGA(C/T)TACAG intron-variant
rs111719475 -- 28,774,169(+) TTCAT(A/G)CCATT intron-variant
rs111888584 -- 28,779,750(+) AATAC(A/G)TGCCT intron-variant
rs111894659 -- 28,781,511(+) ACGCC(C/T)GGCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC117 Gene

Variant ID Type Subtype PubMed ID
nsv9895 CNV gain+loss 18304495
nsv834169 CNV loss 17160897
nsv1114318 CNV deletion 24896259
nsv1064079 CNV gain 25217958
esv7361 CNV loss 19470904
esv4499 CNV loss 18987735
esv3558039 CNV deletion 23714750
esv2724119 CNV deletion 23290073
esv2496014 CNV deletion 19546169
esv2430624 CNV deletion 19546169
esv2307652 CNV deletion 18987734
esv1361730 CNV deletion 17803354

Variation tolerance for CCDC117 Gene

Residual Variation Intolerance Score: 36.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC117 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC117

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC117 Gene

Disorders for CCDC117 Gene

Relevant External Links for CCDC117

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC117

No disorders were found for CCDC117 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC117 Gene

Publications for CCDC117 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  3. 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
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4 64

Products for CCDC117 Gene

Sources for CCDC117 Gene

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