Aliases for CCDC117 Gene

Aliases for CCDC117 Gene

  • Coiled-Coil Domain Containing 117 2 3 5
  • Coiled-Coil Domain-Containing Protein 117 3 4
  • DJ366L4.1 3
  • FLJ33814 2
  • CCDC117 5

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.

Additional gene information for CCDC117 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC117 Gene

Genomics for CCDC117 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC117 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC117 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC117

Top Transcription factor binding sites by QIAGEN in the CCDC117 gene promoter:
  • AML1a
  • C/EBPalpha
  • HNF-1
  • HNF-1A
  • NF-1
  • NF-1/L
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2

Genomic Locations for CCDC117 Gene

Genomic Locations for CCDC117 Gene
chr22:28,772,674-28,789,301
(GRCh38/hg38)
Size:
16,628 bases
Orientation:
Plus strand
chr22:29,168,662-29,185,283
(GRCh37/hg19)
Size:
16,622 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

Gene Families for CCDC117 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC117 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC117 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54677 (B7Z2V1_HUMAN)
  • cDNA FLJ59662 (B7Z820_HUMAN)
  • cDNA FLJ54991 (B7Z860_HUMAN)
  • Coiled-coil domain-containing protein 117 (CC117_HUMAN)
genes like me logo Genes that share domains with CCDC117: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC117 Gene

Function for CCDC117 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

miRNA for CCDC117 Gene

miRTarBase miRNAs that target CCDC117

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC117

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
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

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

Pathways & Interactions for CCDC117 Gene

PathCards logo

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

Drugs & Compounds for CCDC117 Gene

No Compound Related Data Available

Transcripts for CCDC117 Gene

mRNA/cDNA for CCDC117 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC117

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

No ASD Table

Relevant External Links for CCDC117 Gene

GeneLoc Exon Structure 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC117

SOURCE GeneReport for Unigene cluster for CCDC117 Gene:

Hs.406460

Evidence on tissue expression from TISSUES for CCDC117 Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with CCDC117: view

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 98.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC117 30 31
  • 90.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC117 30 31
  • 90.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc117 30
  • 83.75 (n)
Mouse
(Mus musculus)
Mammalia Ccdc117 30 17 31
  • 82.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC117 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC117 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC117 30 31
  • 68.15 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc117 30
  • 52.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii CCDC117 31
  • 24 (a)
OneToOne
Species where no ortholog for CCDC117 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC117: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC117 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs13057011 - p.Arg147Ser
rs9613680 - p.Ser272Asn

Additional dbSNP identifiers (rs#s) for CCDC117 Gene

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

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

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)

Additional Variant Information 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

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. Nkx2-5 Second Heart Field Target Gene Ccdc117 Regulates DNA Metabolism and Proliferation. (PMID: 30742009) Horton AJ … Lee KH (Scientific reports 2019) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4

Products for CCDC117 Gene

  • Biorbyt antibodies for CCDC117

Sources for CCDC117 Gene