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Aliases for C9orf66 Gene

Aliases for C9orf66 Gene

  • Chromosome 9 Open Reading Frame 66 2 3 5

External Ids for C9orf66 Gene

Summaries for C9orf66 Gene

GeneCards Summary for C9orf66 Gene

C9orf66 (Chromosome 9 Open Reading Frame 66) is a Protein Coding gene.

Additional gene information for C9orf66 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 C9orf66 Gene

Genomics for C9orf66 Gene

Regulatory Elements for C9orf66 Gene

Enhancers for C9orf66 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
GH09H000270 1.6 FANTOM5 ENCODE dbSUPER 26.8 -57.2 -57210 5.4 PKNOX1 ATF1 ARNT YY1 TCF12 ELK1 ZNF143 FOS ATF7 RUNX3 DOCK8 C9orf66 CBWD1 ENSG00000235880 WASHC1 FOXD4 GC09M000242
GH09H000295 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.5 -81.4 -81360 2.7 CTCF EBF1 BATF FOSL1 POLR2A EED FOSL2 FOS PRDM10 ETV6 DOCK8 C9orf66 ENSG00000235880 CBWD1 KANK1 GC09M000242 GC09P000333
GH09H000276 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -63.6 -63643 6.6 PKNOX1 NFIB FEZF1 BATF GATA2 ZNF366 ZNF350 OVOL3 ZNF398 ZEB2 WASHC1 DOCK8 CBWD1 RPL12P25 C9orf66 ENSG00000235880 GC09M000242
GH09H000213 1.2 ENCODE dbSUPER 11.1 +0.2 192 3.7 ATF1 SIN3A GLIS2 ZNF143 ATF7 REST GLIS1 MXD3 BRD4 CTCF CBWD1 WASHC1 ENSG00000235880 C9orf66 DOCK8
GH09H000235 0.7 dbSUPER 18.1 -24.1 -24130 8.1 SMARCE1 PKNOX1 BACH1 REST ZKSCAN1 GABPA FOSL1 ZNF316 SMARCA4 IKZF1 CBWD1 DOCK8 ENSG00000235880 C9orf66 FOXD4 GC09P000245 GC09M000227
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf66 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf66 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232352 593 1801 ATF1 SIN3A GLIS2 ZNF143 ATF7 REST GLIS1 MXD3 BRD4 CTCF

Genomic Locations for C9orf66 Gene

Genomic Locations for C9orf66 Gene
3,070 bases
Minus strand

Genomic View for C9orf66 Gene

Genes around C9orf66 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf66 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf66 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf66 Gene

Proteins for C9orf66 Gene

  • Protein details for C9orf66 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C9orf66
    Protein Accession:
    Secondary Accessions:
    • Q96NB0

    Protein attributes for C9orf66 Gene

    295 amino acids
    Molecular mass:
    31184 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C9orf66 Gene

Post-translational modifications for C9orf66 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf66 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf66 Gene

Domains & Families for C9orf66 Gene

Gene Families for C9orf66 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C9orf66 Gene


Suggested Antigen Peptide Sequences for C9orf66 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf66: view

No data available for UniProtKB/Swiss-Prot for C9orf66 Gene

Function for C9orf66 Gene

Phenotypes From GWAS Catalog for C9orf66 Gene

genes like me logo Genes that share phenotypes with C9orf66: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf66 Gene

Localization for C9orf66 Gene

Subcellular locations from

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 C9orf66 gene
Compartment Confidence
nucleus 3
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C9orf66 Gene

Pathways & Interactions for C9orf66 Gene

SuperPathways for C9orf66 Gene

No Data Available

Interacting Proteins for C9orf66 Gene

Gene Ontology (GO) - Biological Process for C9orf66 Gene


No data available for Pathways by source and SIGNOR curated interactions for C9orf66 Gene

Drugs & Compounds for C9orf66 Gene

No Compound Related Data Available

Transcripts for C9orf66 Gene

mRNA/cDNA for C9orf66 Gene

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

Unigene Clusters for C9orf66 Gene

Chromosome 9 open reading frame 66:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf66 Gene

No ASD Table

Relevant External Links for C9orf66 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9orf66 Gene

Protein differential expression in normal tissues from HIPED for C9orf66 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf66 Gene

Protein tissue co-expression partners for C9orf66 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf66 Gene:


SOURCE GeneReport for Unigene cluster for C9orf66 Gene:


No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf66 Gene

Orthologs for C9orf66 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C9orf66 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C9H9orf66 33
  • 93.79 (n)
Species where no ortholog for C9orf66 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C9orf66 Gene

Gene Tree for C9orf66 (if available)
Gene Tree for C9orf66 (if available)

Paralogs for C9orf66 Gene

No data available for Paralogs for C9orf66 Gene

Variants for C9orf66 Gene

Sequence variations from dbSNP and Humsavar for C9orf66 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs192260189 Likely benign 215,081(+) GCTGG(G/T)GTGAA intron-variant, upstream-variant-2KB, reference, missense
rs62533313 Likely benign 214,908(+) GCTAC(C/T)CTGCG intron-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs144097790 Uncertain significance 214,919(+) GCGCG(C/T)CAGGC intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs566738926 Uncertain significance 215,012(+) GCGTT(A/C/G)GCGCT intron-variant, upstream-variant-2KB, reference, missense, stop-gained
rs764626266 Uncertain significance 215,040(+) ACGCC(C/T)CCCGC intron-variant, upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for C9orf66 Gene

Variant ID Type Subtype PubMed ID
nsv950829 CNV duplication 24416366
nsv8403 CNV gain+loss 18304495
nsv818668 CNV gain 17921354
nsv612987 CNV gain 21841781
nsv612986 CNV loss 21841781
nsv612983 CNV gain 21841781
nsv515505 CNV gain+loss 19592680
nsv466028 CNV gain 19166990
nsv442127 CNV gain 18776908
nsv1119254 CNV duplication 24896259
nsv1032134 CNV loss 25217958
nsv1023234 CNV loss 25217958
nsv1020561 CNV loss 25217958
esv3891510 CNV loss 25118596
esv3891508 CNV gain 25118596
esv3891507 CNV gain+loss 25118596
esv3891505 CNV gain 25118596
esv3891501 CNV gain 25118596
esv3619174 CNV loss 21293372
esv3576613 CNV gain 25503493
esv3576612 CNV gain 25503493
esv32541 CNV gain 17666407
esv2764172 CNV gain+loss 21179565
esv2759654 CNV gain+loss 17122850
dgv909n27 CNV gain 19166990
dgv908n27 CNV gain 19166990
dgv7354n100 CNV gain 25217958
dgv7353n100 CNV gain 25217958
dgv7352n100 CNV gain 25217958
dgv7351n100 CNV gain 25217958
dgv7350n100 CNV gain 25217958
dgv7349n100 CNV gain 25217958
dgv7348n100 CNV gain 25217958
dgv7347n100 CNV gain 25217958
dgv7346n100 CNV gain 25217958
dgv7345n100 CNV gain 25217958
dgv7344n100 CNV gain 25217958
dgv7343n100 CNV gain 25217958
dgv254e55 CNV gain 17911159
dgv253e55 CNV gain 17911159
dgv12450n54 CNV gain 21841781
dgv12449n54 CNV gain 21841781
dgv12448n54 CNV gain 21841781
dgv12447n54 CNV gain 21841781

Variation tolerance for C9orf66 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.56; 95.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf66 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf66 Gene

Disorders for C9orf66 Gene

Relevant External Links for C9orf66

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for C9orf66 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf66 Gene

Publications for C9orf66 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60
  3. Genome-scale RNAi screen for host factors required for HIV replication. (PMID: 18976975) Zhou H … Espeseth AS (Cell host & microbe 2008) 3 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for C9orf66 Gene

Sources for C9orf66 Gene

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