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Aliases for C9orf64 Gene

Aliases for C9orf64 Gene

  • Chromosome 9 Open Reading Frame 64 2 3 5
  • Queuosine Salvage Protein 3
  • UPF0553 Protein C9orf64 3

External Ids for C9orf64 Gene

Previous GeneCards Identifiers for C9orf64 Gene

  • GC09M082010
  • GC09M083782
  • GC09M085743
  • GC09M086553
  • GC09M056378

Summaries for C9orf64 Gene

GeneCards Summary for C9orf64 Gene

C9orf64 (Chromosome 9 Open Reading Frame 64) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C9orf64 Gene

  • Involved in salvaging queuosine.

Gene Wiki entry for C9orf64 Gene

Additional gene information for C9orf64 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf64 Gene

Genomics for C9orf64 Gene

GeneHancer (GH) Regulatory Elements for C9orf64 Gene

Promoters and enhancers for C9orf64 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J083955 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.6 603 2.3 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF766 SP3 ZHX2 REST SMARCB1 C9orf64 HNRNPK LOC105376114 RMI1 KIF27
GH09J083977 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12 -23.0 -22990 5.5 PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B IRF4 HNRNPK RMI1 KIF27 C9orf64 LOC105376116 IDNK GKAP1 ENSG00000235298
GH09J083933 Enhancer 0.9 Ensembl ENCODE 13 +22.3 22294 2.9 GTF2F1 MXI1 USF1 ZNF133 MAX CEBPG EGR1 CBFA2T2 PRDM10 GATAD2A C9orf64 LOC105376116 RMI1 ENSG00000231616 KIF27
GH09J083983 Enhancer 0.6 Ensembl dbSUPER 11.4 -26.1 -26134 0.4 HLF ADNP ZNF24 C9orf64 KIF27 LOC105376116 RMI1 GC09P083995
GH09J084821 Enhancer 0.5 ENCODE 9.9 -865.1 -865063 1.8 SRF ELF1 ZZZ3 SPI1 C9orf64 NTRK2 GC09P084671 GC09P085030
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9orf64 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf64 gene promoter:
  • MEF-2A
  • PPAR-gamma2
  • aMEF-2
  • Nkx2-5
  • AREB6
  • Nkx6-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • PPAR-gamma1

Genomic Locations for C9orf64 Gene

Genomic Locations for C9orf64 Gene
18,761 bases
Minus strand
18,676 bases
Minus strand

Genomic View for C9orf64 Gene

Genes around C9orf64 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf64 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf64 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf64 Gene

Proteins for C9orf64 Gene

  • Protein details for C9orf64 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Queuosine salvage protein
    Protein Accession:
    Secondary Accessions:
    • B2RPI6
    • Q8N2B1
    • Q9BT18

    Protein attributes for C9orf64 Gene

    341 amino acids
    Molecular mass:
    39029 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC03538.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for C9orf64 Gene

Post-translational modifications for C9orf64 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf64 Gene

No data available for DME Specific Peptides for C9orf64 Gene

Domains & Families for C9orf64 Gene

Gene Families for C9orf64 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C9orf64 Gene


Suggested Antigen Peptide Sequences for C9orf64 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the queuosine salvage protein family.
  • Belongs to the queuosine salvage protein family.
genes like me logo Genes that share domains with C9orf64: view

Function for C9orf64 Gene

Molecular function for C9orf64 Gene

UniProtKB/Swiss-Prot Function:
Involved in salvaging queuosine.

Phenotypes From GWAS Catalog for C9orf64 Gene

Gene Ontology (GO) - Molecular Function for C9orf64 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C9orf64: view
genes like me logo Genes that share phenotypes with C9orf64: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf64 Gene

Localization for C9orf64 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 C9orf64 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C9orf64 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with C9orf64: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C9orf64 Gene

Pathways & Interactions for C9orf64 Gene

SuperPathways for C9orf64 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C9orf64 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification IEA,IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C9orf64: view

No data available for Pathways by source and SIGNOR curated interactions for C9orf64 Gene

Drugs & Compounds for C9orf64 Gene

No Compound Related Data Available

Transcripts for C9orf64 Gene

mRNA/cDNA for C9orf64 Gene

Unigene Clusters for C9orf64 Gene

Chromosome 9 open reading frame 64:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf64 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: - - -
SP2: -
SP3: -
SP4: - - -

Relevant External Links for C9orf64 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9orf64 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf64 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C9orf64 Gene

This gene is overexpressed in Testis (6.9) and Ovary (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C9orf64 Gene

Protein tissue co-expression partners for C9orf64 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C9orf64 Gene:


SOURCE GeneReport for Unigene cluster for C9orf64 Gene:


Evidence on tissue expression from TISSUES for C9orf64 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with C9orf64: 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 C9orf64 Gene

Orthologs for C9orf64 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for C9orf64 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C9H9orf64 33
  • 99.87 (n)
C9orf64 34
  • 99 (a)
(Bos Taurus)
Mammalia C8H9orf64 34 33
  • 88.17 (n)
(Canis familiaris)
Mammalia C9orf64 34
  • 87 (a)
C1H9orf64 33
  • 86.12 (n)
(Ornithorhynchus anatinus)
Mammalia C9orf64 34
  • 82 (a)
(Rattus norvegicus)
Mammalia RGD1311345 33
  • 79.4 (n)
(Mus musculus)
Mammalia 2210016F16Rik 16 34 33
  • 79.09 (n)
(Monodelphis domestica)
Mammalia C9orf64 34
  • 66 (a)
(Gallus gallus)
Aves CZH9ORF64 33
  • 71.16 (n)
C9orf64 34
  • 71 (a)
(Anolis carolinensis)
Reptilia C9orf64 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf64 33
  • 64.52 (n)
Str.5189 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15578 33
(Danio rerio)
Actinopterygii zgc:136564 33
  • 58.6 (n)
C8H9orf64 34
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005844 33
  • 52.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9752 34 33
  • 51.41 (n)
(Caenorhabditis elegans)
Secernentea C11D2.4 34 33
  • 52.61 (n)
(Oryza sativa)
Liliopsida Os07g0588800 33
  • 46.14 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC589.05c 33
  • 51.67 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03527 33
  • 51.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
Species where no ortholog for C9orf64 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for C9orf64 Gene

Gene Tree for C9orf64 (if available)
Gene Tree for C9orf64 (if available)

Paralogs for C9orf64 Gene Pseudogenes for C9orf64 Gene

genes like me logo Genes that share paralogs with C9orf64: view

No data available for Paralogs for C9orf64 Gene

Variants for C9orf64 Gene

Sequence variations from dbSNP and Humsavar for C9orf64 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000016348 -- 83,952,840(-) T/G genic_downstream_transcript_variant, intron_variant
rs1000016976 -- 83,946,110(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000036387 -- 83,946,941(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000088640 -- 83,946,612(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000175044 -- 83,941,902(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf64 Gene

Variant ID Type Subtype PubMed ID
esv2759701 CNV gain 17122850
esv3620909 CNV gain 21293372
esv3620910 CNV loss 21293372
nsv1043703 CNV gain 25217958
nsv436717 OTHER inversion 17901297
nsv469859 CNV gain 16826518
nsv831644 CNV gain 17160897
nsv8541 CNV gain 18304495

Variation tolerance for C9orf64 Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9orf64 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf64 Gene

Disorders for C9orf64 Gene

Additional Disease Information for C9orf64

No disorders were found for C9orf64 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf64 Gene

Publications for C9orf64 Gene

  1. Plant, animal, and fungal micronutrient queuosine is salvaged by members of the DUF2419 protein family. (PMID: 24911101) Zallot R … de Crécy-Lagard V (ACS chemical biology 2014) 2 3 4 58
  2. Incomplete DNA methylation underlies a transcriptional memory of somatic cells in human iPS cells. (PMID: 21499256) Ohi Y … Ramalho-Santos M (Nature cell biology 2011) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 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 C9orf64 Gene

Sources for C9orf64 Gene

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