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Aliases for C9orf40 Gene

Aliases for C9orf40 Gene

  • Chromosome 9 Open Reading Frame 40 2 3 5
  • Uncharacterized Protein C9orf40 3

External Ids for C9orf40 Gene

Previous GeneCards Identifiers for C9orf40 Gene

  • GC09M073018
  • GC09M074791
  • GC09M076751
  • GC09M077561
  • GC09M047383

Summaries for C9orf40 Gene

GeneCards Summary for C9orf40 Gene

C9orf40 (Chromosome 9 Open Reading Frame 40) is a Protein Coding gene.

Additional gene information for C9orf40 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 C9orf40 Gene

Genomics for C9orf40 Gene

GeneHancer (GH) Regulatory Elements for C9orf40 Gene

Promoters and enhancers for C9orf40 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
GH09J074951 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.8 +0.0 43 3.3 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 E2F8 ZNF143 C9orf41-AS1 C9orf40 NMRK1 OSTF1 CARNMT1 TRPM6 RNU6-445P LOC100133316
GH09J075026 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 6.8 -74.8 -74796 3.1 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF207 ZNF143 CARNMT1 C9orf40 ENSG00000278040 GC09P074993
GH09J075000 Enhancer 0.9 ENCODE 8.6 -48.6 -48567 2.1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 SLC30A9 ZNF143 RUNX3 NFKBIZ CARNMT1 NMRK1 OSTF1 C9orf40 GC09P074993 ENSG00000229587
GH09J075038 Enhancer 0.5 ENCODE 6.6 -86.4 -86368 1.8 HDGF PCBP2 JUND FOS C9orf40 CARNMT1 GC09P074993 NMRK1
GH09J074949 Enhancer 0.6 ENCODE 0.7 +3.8 3806 0.2 MEIS2 PKNOX1 TEAD4 TAL1 CBFA2T3 REST DPF2 EP300 TCF12 NFIC TRPM6 CARNMT1 OSTF1 NMRK1 RNU6-445P C9orf40 LOC100133316
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C9orf40 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf40 gene promoter:

Genomic Locations for C9orf40 Gene

Genomic Locations for C9orf40 Gene
6,306 bases
Minus strand

Genomic View for C9orf40 Gene

Genes around C9orf40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf40 Gene

Proteins for C9orf40 Gene

  • Protein details for C9orf40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C9orf40
    Protein Accession:
    Secondary Accessions:
    • Q9NWD3

    Protein attributes for C9orf40 Gene

    194 amino acids
    Molecular mass:
    21063 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C9orf40 Gene

Post-translational modifications for C9orf40 Gene

  • Ubiquitination at Lys17
  • Modification sites at PhosphoSitePlus

Other Protein References for C9orf40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf40 Gene

Domains & Families for C9orf40 Gene

Gene Families for C9orf40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C9orf40 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf40: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf40 Gene

Function for C9orf40 Gene

Phenotypes From GWAS Catalog for C9orf40 Gene

Gene Ontology (GO) - Molecular Function for C9orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
genes like me logo Genes that share ontologies with C9orf40: view
genes like me logo Genes that share phenotypes with C9orf40: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf40 Gene

Localization for C9orf40 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 C9orf40 gene
Compartment Confidence
mitochondrion 3
nucleus 3
cytoskeleton 2
peroxisome 2
cytosol 2

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf40 Gene

Pathways & Interactions for C9orf40 Gene

SuperPathways for C9orf40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C9orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with C9orf40: view

No data available for Pathways by source and SIGNOR curated interactions for C9orf40 Gene

Drugs & Compounds for C9orf40 Gene

No Compound Related Data Available

Transcripts for C9orf40 Gene

mRNA/cDNA for C9orf40 Gene

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

Unigene Clusters for C9orf40 Gene

Chromosome 9 open reading frame 40:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf40 Gene

No ASD Table

Relevant External Links for C9orf40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9orf40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C9orf40 Gene

This gene is overexpressed in Gallbladder (43.6) and Fetal Liver (25.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C9orf40 Gene

Protein tissue co-expression partners for C9orf40 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf40 Gene:


SOURCE GeneReport for Unigene cluster for C9orf40 Gene:


Evidence on tissue expression from TISSUES for C9orf40 Gene

  • Intestine(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with C9orf40: 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 C9orf40 Gene

Orthologs for C9orf40 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C9orf40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C9H9orf40 33
  • 97.59 (n)
C9orf40 34
  • 96 (a)
(Bos Taurus)
Mammalia C8H9orf40 33
  • 85.4 (n)
C9orf40 34
  • 74 (a)
(Canis familiaris)
Mammalia C1H9orf40 33
  • 82.82 (n)
C9orf40 34
  • 74 (a)
(Rattus norvegicus)
Mammalia LOC499331 33
  • 72.63 (n)
(Mus musculus)
Mammalia D030056L22Rik 16 34 33
  • 71.4 (n)
(Monodelphis domestica)
Mammalia C9orf40 34
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia C9orf40 34
  • 37 (a)
Species where no ortholog for C9orf40 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)
  • 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 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 C9orf40 Gene

Gene Tree for C9orf40 (if available)
Gene Tree for C9orf40 (if available)

Paralogs for C9orf40 Gene

No data available for Paralogs for C9orf40 Gene

Variants for C9orf40 Gene

Sequence variations from dbSNP and Humsavar for C9orf40 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000047801 -- 74,952,848(-) C/G 5_prime_UTR_variant
rs1000099920 -- 74,952,683(-) C/A 5_prime_UTR_variant
rs1002242402 -- 74,946,484(-) TAAT/T downstream_transcript_variant
rs1002422565 -- 74,953,071(-) C/A upstream_transcript_variant
rs1002424706 -- 74,953,282(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf40 Gene

Variant ID Type Subtype PubMed ID
nsv507518 OTHER sequence alteration 20534489
nsv518305 CNV loss 19592680

Variation tolerance for C9orf40 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9orf40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf40 Gene

Disorders for C9orf40 Gene

Additional Disease Information for C9orf40

No disorders were found for C9orf40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf40 Gene

Publications for C9orf40 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3 58

Products for C9orf40 Gene

Sources for C9orf40 Gene

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