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Aliases for CCDC94 Gene

Aliases for CCDC94 Gene

  • Coiled-Coil Domain Containing 94 2 3 5

External Ids for CCDC94 Gene

Previous GeneCards Identifiers for CCDC94 Gene

  • GC19P004194
  • GC19P004039

Summaries for CCDC94 Gene

GeneCards Summary for CCDC94 Gene

CCDC94 (Coiled-Coil Domain Containing 94) is a Protein Coding gene. An important paralog of this gene is CCDC130.

Additional gene information for CCDC94 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 CCDC94 Gene

Genomics for CCDC94 Gene

Regulatory Elements for CCDC94 Gene

Enhancers for CCDC94 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
GH19H004574 2 FANTOM5 Ensembl ENCODE dbSUPER 44.1 +328.4 328405 2 HDGF PKNOX1 ARNT ARID4B FEZF1 ZNF2 ZBTB7B ZNF143 ZNF548 FOS CACTIN CCDC94 CACTIN-AS1 APBA3 ENSG00000267030 TICAM1 ENSG00000269807 ENSG00000267769 DPP9-AS1 SH3GL1
GH19H003981 1.2 ENCODE 54.4 -262.5 -262493 8 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 NR2C1 CACTIN ENSG00000267030 CCDC94 ENSG00000267769 CACTIN-AS1 ENSG00000267255 FZR1 HDGFL2 ENSG00000266959 LOC100287614
GH19H003605 1.3 ENCODE dbSUPER 48.2 -639.5 -639476 4 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF2 ZNF766 SP3 MCM5 ZNF662 CACTIN ZNF77 CACTIN-AS1 CCDC94 ENSG00000267030 ZNF555 ENSG00000267769 APBA3 GNA11 ZNF554
GH19H004811 2 FANTOM5 Ensembl ENCODE dbSUPER 31.1 +567.3 567270 5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 DUS3L CCDC94 TICAM1 SNRPEP4 SEMA6B ENSG00000267030 SAFB PLIN3 DPP9-AS1 ENSG00000267769
GH19H004722 1.4 ENCODE dbSUPER 41.2 +477.0 477025 4 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ZC3H11A ZFP41 SSRP1 ZNF610 SAFB SAFB2 CCDC94 SNRPEP4 ENSG00000267030 HDGFL2 ENSG00000267769 APBA3 DPP9-AS1 PTPRS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC94 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC94 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106178 221 1401 DMAP1 YY1 SLC30A9 ZNF143 SP3 MCM3 NFYC ZC3H11A MEF2D SSRP1

Genomic Location for CCDC94 Gene

Chromosome:
19
Start:
4,247,079 bp from pter
End:
4,269,090 bp from pter
Size:
22,012 bases
Orientation:
Plus strand

Genomic View for CCDC94 Gene

Genes around CCDC94 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC94 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC94 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC94 Gene

Proteins for CCDC94 Gene

  • Protein details for CCDC94 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW85-CCD94_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 94
    Protein Accession:
    Q9BW85
    Secondary Accessions:
    • O75270
    • Q9H862
    • Q9NW16

    Protein attributes for CCDC94 Gene

    Size:
    323 amino acids
    Molecular mass:
    37086 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC72949.1; Type=Frameshift; Positions=285; Evidence={ECO:0000305};

neXtProt entry for CCDC94 Gene

Post-translational modifications for CCDC94 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC94 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC94 Gene

Domains & Families for CCDC94 Gene

Gene Families for CCDC94 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC94 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC94 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BW85

UniProtKB/Swiss-Prot:

CCD94_HUMAN :
  • Belongs to the CWC16 family.
Family:
  • Belongs to the CWC16 family.
genes like me logo Genes that share domains with CCDC94: view

Function for CCDC94 Gene

Phenotypes From GWAS Catalog for CCDC94 Gene

Gene Ontology (GO) - Molecular Function for CCDC94 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC94: view
genes like me logo Genes that share phenotypes with CCDC94: view

Animal Models for CCDC94 Gene

MGI Knock Outs for CCDC94:

Animal Model Products

CRISPR Products

miRNA for CCDC94 Gene

miRTarBase miRNAs that target CCDC94

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC94
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC94 Gene

Localization for CCDC94 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 CCDC94 gene
Compartment Confidence
nucleus 4
cytosol 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC94 Gene

Pathways & Interactions for CCDC94 Gene

SuperPathways for CCDC94 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC94 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC94 Gene

Drugs & Compounds for CCDC94 Gene

No Compound Related Data Available

Transcripts for CCDC94 Gene

mRNA/cDNA for CCDC94 Gene

Unigene Clusters for CCDC94 Gene

Coiled-coil domain containing 94:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC94
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC94 Gene

No ASD Table

Relevant External Links for CCDC94 Gene

GeneLoc Exon Structure for
CCDC94
ECgene alternative splicing isoforms for
CCDC94

Expression for CCDC94 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC94 Gene

Protein differential expression in normal tissues from HIPED for CCDC94 Gene

This gene is overexpressed in Spleen (16.4), Peripheral blood mononuclear cells (12.8), Adrenal (10.0), and CD8 Tcells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC94 Gene



Protein tissue co-expression partners for CCDC94 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC94 Gene:

CCDC94

SOURCE GeneReport for Unigene cluster for CCDC94 Gene:

Hs.21811

Evidence on tissue expression from TISSUES for CCDC94 Gene

  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with CCDC94: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC94 Gene

Orthologs for CCDC94 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCDC94 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC94 33 34
  • 92.21 (n)
cow
(Bos Taurus)
Mammalia CCDC94 33 34
  • 85.1 (n)
dog
(Canis familiaris)
Mammalia CCDC94 33 34
  • 83.9 (n)
mouse
(Mus musculus)
Mammalia Ccdc94 33 16 34
  • 82.38 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc94 33
  • 81.58 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC94 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC94 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC94 33 34
  • 75.84 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC94 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc94 33
  • 65.21 (n)
Str.3695 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24272 33
zebrafish
(Danio rerio)
Actinopterygii ccdc94 33 34
  • 68.35 (n)
zgc55914 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3443 33
fruit fly
(Drosophila melanogaster)
Insecta CG8435 33 34
  • 70.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012306 33
  • 59.83 (n)
worm
(Caenorhabditis elegans)
Secernentea F37C12.1 33 34
  • 47.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YJU2 34
  • 26 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9263 33
barley
(Hordeum vulgare)
Liliopsida Hv.2576 33
rice
(Oryza sativa)
Liliopsida Os.24549 33
wheat
(Triticum aestivum)
Liliopsida Ta.14364 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2229 34
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6066 33
Species where no ortholog for CCDC94 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CCDC94 Gene

ENSEMBL:
Gene Tree for CCDC94 (if available)
TreeFam:
Gene Tree for CCDC94 (if available)

Paralogs for CCDC94 Gene

Paralogs for CCDC94 Gene

(1) SIMAP similar genes for CCDC94 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CCDC94: view

Variants for CCDC94 Gene

Sequence variations from dbSNP and Humsavar for CCDC94 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000177947 -- 4,264,924(+) CAAGA(A/C)ATTTT intron-variant
rs1000304578 -- 4,259,086(+) TTTTT(C/T)TTTTT intron-variant
rs1000362208 -- 4,257,792(+) GAGAC(A/G)GGGTT intron-variant
rs1000393285 -- 4,257,620(+) AGGCA(C/G)ATGCC intron-variant
rs1000525957 -- 4,264,012(+) AATCC(A/C)AGCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC94 Gene

Variant ID Type Subtype PubMed ID
esv2718000 CNV deletion 23290073
esv2718001 CNV deletion 23290073
esv2718002 CNV deletion 23290073
esv28436 CNV loss 19812545
nsv578442 CNV loss 21841781
nsv833716 CNV loss 17160897
nsv833717 CNV loss 17160897
nsv833718 CNV loss 17160897

Variation tolerance for CCDC94 Gene

Residual Variation Intolerance Score: 29.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC94 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC94

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC94 Gene

Disorders for CCDC94 Gene

Relevant External Links for CCDC94

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC94

No disorders were found for CCDC94 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC94 Gene

Publications for CCDC94 Gene

  1. Ccdc94 protects cells from ionizing radiation by inhibiting the expression of p53. (PMID: 22952453) Sorrells S … Jette C (PLoS genetics 2012) 2 3 60
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for CCDC94 Gene

Sources for CCDC94 Gene

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