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Aliases for C9orf9 Gene

Aliases for C9orf9 Gene

  • Chromosome 9 Open Reading Frame 9 2 3
  • Rsb66 Homolog 3
  • Mast 3

External Ids for C9orf9 Gene

Previous GeneCards Identifiers for C9orf9 Gene

  • GC09P126778
  • GC09P127310
  • GC09P129107
  • GC09P131029
  • GC09P131030
  • GC09P134743
  • GC09P135753
  • GC09P105248

Summaries for C9orf9 Gene

GeneCards Summary for C9orf9 Gene

C9orf9 (Chromosome 9 Open Reading Frame 9) 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 C9orf9 Gene

Genomics for C9orf9 Gene

Regulatory Elements for C9orf9 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C9orf9 Gene

132,878,027 bp from pter
132,890,201 bp from pter
12,175 bases
Plus strand

Genomic View for C9orf9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C9orf9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf9 Gene

Proteins for C9orf9 Gene

  • Protein details for C9orf9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C9orf9
    Protein Accession:
    Secondary Accessions:
    • Q9UGQ0

    Protein attributes for C9orf9 Gene

    222 amino acids
    Molecular mass:
    25166 Da
    Quaternary structure:
    • Interacts with CABP1 AND CALR.

    Alternative splice isoforms for C9orf9 Gene


neXtProt entry for C9orf9 Gene

Proteomics data for C9orf9 Gene at MOPED

Post-translational modifications for C9orf9 Gene

  • Ubiquitination at Lys 116
  • Modification sites at PhosphoSitePlus

Other Protein References for C9orf9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf9 Gene

Domains & Families for C9orf9 Gene

Protein Domains for C9orf9 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf9: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf9 Gene

Function for C9orf9 Gene

Gene Ontology (GO) - Molecular Function for C9orf9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0048306 calcium-dependent protein binding IEA --
genes like me logo Genes that share ontologies with C9orf9: view

Phenotypes for C9orf9 Gene

genes like me logo Genes that share phenotypes with C9orf9: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C9orf9

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf9 Gene

Localization for C9orf9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf9 Gene

Cytoplasm. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=In caudal sperms localizes onto sperm head. Is also present on midpiece and principle piece of sperm tails. Acrosome and sperm tail localization is regulated by Y-chromosome. {ECO:0000250 UniProtKB:Q7TPM5}.

Subcellular locations from

Jensen Localization Image for C9orf9 Gene COMPARTMENTS Subcellular localization image for C9orf9 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 3

Gene Ontology (GO) - Cellular Components for C9orf9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm --
GO:0005881 cytoplasmic microtubule IDA 23264731
genes like me logo Genes that share ontologies with C9orf9: view

Pathways & Interactions for C9orf9 Gene

SuperPathways for C9orf9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C9orf9 Gene


No data available for Pathways by source and SIGNOR curated interactions for C9orf9 Gene

Drugs & Compounds for C9orf9 Gene

No Compound Related Data Available

Transcripts for C9orf9 Gene

mRNA/cDNA for C9orf9 Gene

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

Unigene Clusters for C9orf9 Gene

Chromosome 9 open reading frame 9:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C9orf9

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf9 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8
SP1: - - -
SP2: - - - -
SP3: - -
SP4: -
SP5: -
SP6: - - -

Relevant External Links for C9orf9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9orf9 Gene

mRNA expression in normal human tissues for C9orf9 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf9 Gene

This gene is overexpressed in Testis (x6.8).

Protein differential expression in normal tissues from HIPED for C9orf9 Gene

This gene is overexpressed in Ovary (21.2), Testis (18.1), Rectum (14.9), and Monocytes (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C9orf9 Gene

SOURCE GeneReport for Unigene cluster for C9orf9 Gene Hs.62595

genes like me logo Genes that share expression patterns with C9orf9: view

Protein tissue co-expression partners for C9orf9 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C9orf9 Gene

Orthologs for C9orf9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf9 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia C11H9orf9 35
  • 88.41 (n)
  • 90.85 (a)
C11H9ORF9 36
  • 67 (a)
(Canis familiaris)
Mammalia C9H9orf9 35
  • 89.48 (n)
  • 91.67 (a)
C9ORF9 36
  • 67 (a)
(Mus musculus)
Mammalia 1700026L06Rik 35
  • 86.9 (n)
  • 91.07 (a)
1700026L06Rik 16
1700026L06Rik 36
  • 91 (a)
(Pan troglodytes)
Mammalia C9H9orf9 35
  • 97.36 (n)
  • 96.34 (a)
C9orf9 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Rsb66 35
  • 88.49 (n)
  • 93.45 (a)
(Monodelphis domestica)
Mammalia C9orf9 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia C9orf9 36
  • 75 (a)
(Gallus gallus)
Aves C9ORF9 35
  • 69.94 (n)
  • 65.64 (a)
C9ORF9 36
  • 46 (a)
(Anolis carolinensis)
Reptilia C9orf9 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf9 35
  • 63.69 (n)
  • 56.69 (a)
(Danio rerio)
Actinopterygii zgc:153740 35
  • 55.63 (n)
  • 50.96 (a)
C5H9orf9 36
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
CSA.10159 36
  • 17 (a)
Species with no ortholog for C9orf9:
  • 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)
  • 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 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 C9orf9 Gene

Gene Tree for C9orf9 (if available)
Gene Tree for C9orf9 (if available)

Paralogs for C9orf9 Gene

No data available for Paralogs for C9orf9 Gene

Variants for C9orf9 Gene

Sequence variations from dbSNP and Humsavar for C9orf9 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1062218 -- 132,888,694(+) TACCC(A/G)TGGAC intron-variant, utr-variant-3-prime
rs2040557 -- 132,890,177(+) AAGTC(A/G)GCTTC downstream-variant-500B
rs2073869 -- 132,888,429(+) AGGTG(C/T)TGCAG reference, synonymous-codon
rs2231405 -- 132,884,256(+) TCTAC(C/T)AAATA intron-variant
rs2231406 - 132,887,534(+) CCCTC(A/G/T)TTAGC missense, reference

Structural Variations from Database of Genomic Variants (DGV) for C9orf9 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv894024 CNV Gain 21882294
nsv831743 CNV Loss 17160897
esv2671227 CNV Deletion 23128226
esv2739146 CNV Deletion 23290073

Variation tolerance for C9orf9 Gene

Residual Variation Intolerance Score: 65.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf9 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf9 Gene

Disorders for C9orf9 Gene

Relevant External Links for C9orf9

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C9orf9: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf9 Gene

Publications for C9orf9 Gene

  1. A mouse protein that localizes to acrosome and sperm tail is regulated by Y-chromosome. (PMID: 24256100) Bhattacharya R. … Jesudasan R.A. (BMC Cell Biol. 2013) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. MTR120/KIAA1383, a novel microtubule-associated protein, promotes microtubule stability and ensures cytokinesis. (PMID: 23264731) Fong K.W. … Chen J. (J. Cell Sci. 2013) 67
  5. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. (PMID: 21048031) Casabonne D. … de Sanjose S. (Haematologica 2011) 67

Products for C9orf9 Gene

Sources for C9orf9 Gene

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