Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C9orf50 Gene

Aliases for C9orf50 Gene

  • Chromosome 9 Open Reading Frame 50 2 3 5

External Ids for C9orf50 Gene

Previous GeneCards Identifiers for C9orf50 Gene

  • GC09M129455
  • GC09M131414
  • GC09M132374
  • GC09M101973

Summaries for C9orf50 Gene

GeneCards Summary for C9orf50 Gene

C9orf50 (Chromosome 9 Open Reading Frame 50) 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 C9orf50 Gene

Genomics for C9orf50 Gene

Regulatory Elements for C9orf50 Gene

Enhancers for C9orf50 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C9orf50 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C9orf50 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf50 Gene

129,612,225 bp from pter
129,622,275 bp from pter
10,051 bases
Minus strand

Genomic View for C9orf50 Gene

Genes around C9orf50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf50 Gene

Proteins for C9orf50 Gene

  • Protein details for C9orf50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C9orf50
    Protein Accession:
    Secondary Accessions:
    • Q2M1I2
    • Q8NA65

    Protein attributes for C9orf50 Gene

    431 amino acids
    Molecular mass:
    47639 Da
    Quaternary structure:
    No Data Available
    • Sequence=AK093122; Type=Erroneous termination; Positions=378; Note=Translated as Gln.; Evidence={ECO:0000305};

neXtProt entry for C9orf50 Gene

Proteomics data for C9orf50 Gene at MOPED

Post-translational modifications for C9orf50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf50 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf50 Gene

Domains & Families for C9orf50 Gene

Protein Domains for C9orf50 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf50: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf50 Gene

Function for C9orf50 Gene

Phenotypes for C9orf50 Gene

GenomeRNAi human phenotypes for C9orf50:
genes like me logo Genes that share phenotypes with C9orf50: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf50 Gene

Localization for C9orf50 Gene

Subcellular locations from

Jensen Localization Image for C9orf50 Gene COMPARTMENTS Subcellular localization image for C9orf50 gene
Compartment Confidence
nucleus 3
cytosol 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf50 Gene

Pathways & Interactions for C9orf50 Gene

SuperPathways for C9orf50 Gene

No Data Available

Interacting Proteins for C9orf50 Gene

Gene Ontology (GO) - Biological Process for C9orf50 Gene


No data available for Pathways by source and SIGNOR curated interactions for C9orf50 Gene

Drugs & Compounds for C9orf50 Gene

No Compound Related Data Available

Transcripts for C9orf50 Gene

mRNA/cDNA for C9orf50 Gene

Unigene Clusters for C9orf50 Gene

Chromosome 9 open reading frame 50:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf50 Gene

No ASD Table

Relevant External Links for C9orf50 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9orf50 Gene

mRNA expression in normal human tissues for C9orf50 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf50 Gene

This gene is overexpressed in Testis (x17.8).

Protein differential expression in normal tissues from HIPED for C9orf50 Gene

This gene is overexpressed in Serum (62.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf50 Gene

SOURCE GeneReport for Unigene cluster for C9orf50 Gene Hs.124223

genes like me logo Genes that share expression patterns with C9orf50: view

Protein tissue co-expression partners for C9orf50 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for C9orf50 Gene

Orthologs for C9orf50 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C9orf50 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia C11H9orf50 35
  • 72.56 (n)
  • 55.21 (a)
C9orf50 36
  • 53 (a)
(Canis familiaris)
Mammalia C9H9orf50 35
  • 74.17 (n)
  • 56.98 (a)
-- 36
  • 51 (a)
-- 36
  • 42 (a)
(Mus musculus)
Mammalia 1700001O22Rik 35
  • 65.21 (n)
  • 49.45 (a)
1700001O22Rik 16
1700001O22Rik 36
  • 45 (a)
(Rattus norvegicus)
Mammalia RGD1311084 35
  • 70.68 (n)
  • 59.4 (a)
(Pan troglodytes)
Mammalia C9orf50 36
  • 98 (a)
Species with no ortholog for C9orf50:
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 C9orf50 Gene

Gene Tree for C9orf50 (if available)
Gene Tree for C9orf50 (if available)

Paralogs for C9orf50 Gene

No data available for Paralogs for C9orf50 Gene

Variants for C9orf50 Gene

Sequence variations from dbSNP and Humsavar for C9orf50 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_033220 -
VAR_033221 -
VAR_033222 -
VAR_033223 -

Structural Variations from Database of Genomic Variants (DGV) for C9orf50 Gene

Variant ID Type Subtype PubMed ID
nsv893909 CNV Loss 21882294
nsv831731 CNV Gain+Loss 17160897
nsv893919 CNV Loss 21882294
nsv893922 CNV Gain 21882294
nsv893923 CNV Loss 21882294
nsv469901 CNV Loss 18288195
esv2669087 CNV Deletion 23128226

Variation tolerance for C9orf50 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.80; 73.70% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for C9orf50 Gene

Disorders for C9orf50 Gene

Relevant External Links for C9orf50

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for C9orf50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf50 Gene

Publications for C9orf50 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. (PMID: 23934736) Yu B. … Boerwinkle E. (Genet. Epidemiol. 2013) 3
  3. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark S.L. … van den Oord E.J. (Psychol Med 2012) 3
  4. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M. … da Cruz e Silva E.F. (Biochem. Pharmacol. 2011) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for C9orf50 Gene

Sources for C9orf50 Gene