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Aliases for C9orf40 Gene

Aliases for C9orf40 Gene

  • Chromosome 9 Open Reading Frame 40 2 3 5

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.

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 C9orf40 Gene

Genomics for C9orf40 Gene

Regulatory Elements for C9orf40 Gene

Enhancers for C9orf40 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
GH09F074951 1.1 ENCODE 8.8 +0.0 44 3.3 ATF1 CREB3L1 MLX ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ZNF121 NMRK1 OSTF1 C9orf41-AS1 CARNMT1 TRPM6 RNU6-445P C9orf40 LOC100133316
GH09F075000 1 ENCODE 8.6 -48.6 -48567 2.1 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF143 JUNB MXD4 REST CARNMT1 NMRK1 OSTF1 C9orf40 GC09P074993 ENSG00000229587
GH09F075026 1.1 ENCODE 6.7 -74.8 -74797 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 C9orf40 CARNMT1 ENSG00000278040
GH09F074960 0.7 Ensembl 8.9 -7.8 -7815 0.2 GTF2F1 JUN CEBPG RFX5 GATA3 CTBP1 RCOR1 FOS CHD2 HLF RNU6-445P CARNMT1 TRPM6 C9orf40 GC09P074962 C9orf41-AS1
GH09F075038 0.5 ENCODE 6.6 -86.4 -86369 1.8 HDGF JUND FOS MAFK C9orf40 CARNMT1 NMRK1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf40 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001305905 385 3000 ATF1 CREB3L1 MLX SIN3A GLI4 DMAP1 ZNF48 ZNF2 ZNF121 GTF3C2

Genomic Location for C9orf40 Gene

Chromosome:
9
Start:
74,946,581 bp from pter
End:
74,952,886 bp from pter
Size:
6,306 bases
Orientation:
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:
    Q8IXQ3-CI040_HUMAN
    Recommended name:
    Uncharacterized protein C9orf40
    Protein Accession:
    Q8IXQ3
    Secondary Accessions:
    • Q9NWD3

    Protein attributes for C9orf40 Gene

    Size:
    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 Lys 17
  • 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

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 Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf40 Gene

Function for C9orf40 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 C9orf40 Gene

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

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

Interacting Proteins for C9orf40 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000366050%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000366050 Q8IXQ3-CI040_HUMAN for C9orf40 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C9orf40 Gene

None

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

Transcripts for C9orf40 Gene

mRNA/cDNA for C9orf40 Gene

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

Unigene Clusters for C9orf40 Gene

Chromosome 9 open reading frame 40:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for C9orf40 Gene

GeneLoc Exon Structure for
C9orf40
ECgene alternative splicing isoforms for
C9orf40

Expression for C9orf40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

C9orf40

SOURCE GeneReport for Unigene cluster for C9orf40 Gene:

Hs.532296
genes like me logo Genes that share expression patterns with C9orf40: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf40 34
  • 97.59 (n)
C9orf40 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf40 34
  • 85.4 (n)
C9orf40 35
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H9orf40 34
  • 82.82 (n)
C9orf40 35
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC499331 34
  • 72.63 (n)
mouse
(Mus musculus)
Mammalia D030056L22Rik 34 16 35
  • 71.4 (n)
oppossum
(Monodelphis domestica)
Mammalia C9orf40 35
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf40 35
  • 37 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C9orf40 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1045036 -- 74,947,361(-) AAAAT(C/T)TATTG utr-variant-3-prime
rs10570325 -- 74,951,291(+) CTTTC(-/TTTT)CTTTT intron-variant, upstream-variant-2KB
rs11144166 -- 74,946,220(+) TAAAC(A/C)ACTTT downstream-variant-500B
rs11144168 -- 74,947,779(+) CAGTA(C/T)CTTCA utr-variant-3-prime
rs11144169 -- 74,948,973(+) AAACA(A/T)GGACC intron-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)

Relevant External Links for C9orf40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf40

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

Disorders for C9orf40 Gene

Relevant External Links for C9orf40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for C9orf40 Gene

Sources for C9orf40 Gene

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