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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.

Additional gene information for C9orf50 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 C9orf50 Gene

Genomics for C9orf50 Gene

GeneHancer (GH) Regulatory Elements for C9orf50 Gene

Promoters and enhancers for C9orf50 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I129619 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 556.8 +2.0 2025 1.1 RB1 ZFP64 SIN3A ZBTB40 RFX5 ZNF335 GLIS2 EGR1 HSF1 CREM NTMT1 C9orf50
GH09I129605 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.1 +13.4 13392 5.8 CLOCK FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 MCM3 SP3 NTMT1 NUP188 LOC101929314 SPOUT1 FUBP3 PKN3 C9orf50 NCS1 MIGA2 USP20
GH09I129025 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 +595.0 595030 2.9 HDGF CLOCK ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B ZNF143 DEK SP3 SH3GLB2 LOC101929314 C9orf50 SPTAN1 ENSG00000272696
GH09I129566 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13 +53.0 52977 5.8 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A ZBTB7B YY1 ZNF766 E2F8 C9orf50 NTMT1 LOC105376292 NCS1 IER5L CRAT PTPA LINC00963
GH09I129457 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +162.4 162427 4.4 HDGF FOXA2 ARID4B SIN3A YBX1 DMAP1 YY1 ZNF766 ZNF143 FOS LOC101929314 SPOUT1 LOC101929270 NTMT1 C9orf50 NUP188 LINC00963 USP20 C9orf106 ASB6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C9orf50 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf50 gene promoter:

Genomic Locations for C9orf50 Gene

Genomic Locations for C9orf50 Gene
chr9:129,612,225-129,622,275
(GRCh38/hg38)
Size:
10,051 bases
Orientation:
Minus strand
chr9:132,374,504-132,383,055
(GRCh37/hg19)

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:
    Q5SZB4-CI050_HUMAN
    Recommended name:
    Uncharacterized protein C9orf50
    Protein Accession:
    Q5SZB4
    Secondary Accessions:
    • Q2M1I2
    • Q8NA65

    Protein attributes for C9orf50 Gene

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

neXtProt entry for C9orf50 Gene

Post-translational modifications for C9orf50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C9orf50 Gene

Domains & Families for C9orf50 Gene

Gene Families for C9orf50 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C9orf50 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for C9orf50 Gene

Phenotypes From GWAS Catalog for C9orf50 Gene

Phenotypes for C9orf50 Gene

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

Clone 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

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 C9orf50 gene
Compartment Confidence
nucleus 3
mitochondrion 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) 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

Selected Interacting proteins: Q5SZB4-CI050_HUMAN for C9orf50 Gene via IID

Symbol External ID(s) Details
PPP1CC

Gene Ontology (GO) - Biological Process for C9orf50 Gene

None

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:

Clone Products

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

No ASD Table

Relevant External Links for C9orf50 Gene

GeneLoc Exon Structure for
C9orf50
ECgene alternative splicing isoforms for
C9orf50

Expression for C9orf50 Gene

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



Protein tissue co-expression partners for C9orf50 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf50 Gene:

C9orf50

SOURCE GeneReport for Unigene cluster for C9orf50 Gene:

Hs.124223
genes like me logo Genes that share expression patterns with C9orf50: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C9orf50 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H9orf50 33
  • 74.17 (n)
-- 34
  • 51 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C11H9orf50 33
  • 72.56 (n)
C9orf50 34
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311084 33
  • 70.68 (n)
mouse
(Mus musculus)
Mammalia 1700001O22Rik 33 16 34
  • 65.21 (n)
Species where no ortholog for C9orf50 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)
  • 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

ENSEMBL:
Gene Tree for C9orf50 (if available)
TreeFam:
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 Variation AA Info Type
rs1000319099 -- 129,619,251(-) A/T intron_variant
rs1000859678 -- 129,621,294(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000889691 -- 129,614,956(-) A/G 3_prime_UTR_variant, intron_variant, stop_lost, terminator_codon_variant
rs1001261290 -- 129,615,195(-) G/A intron_variant
rs1001322600 -- 129,620,438(-) G/C coding_sequence_variant, intron_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2669087 CNV deletion 23128226
esv3621837 CNV loss 21293372
nsv1046477 CNV gain 25217958
nsv469901 CNV loss 18288195
nsv831731 CNV gain+loss 17160897
nsv951783 CNV deletion 24416366

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)

Additional Variant Information for C9orf50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf50 Gene

Disorders for C9orf50 Gene

Additional Disease Information for C9orf50

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 (Nature genetics 2004) 3 4 58
  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 (Genetic epidemiology 2013) 3 58
  3. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark SL … van den Oord EJ (Psychological medicine 2012) 3 58
  4. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M … da Cruz e Silva EF (Biochemical pharmacology 2011) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for C9orf50 Gene

Sources for C9orf50 Gene

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