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Aliases for C17orf50 Gene

Aliases for C17orf50 Gene

  • Chromosome 17 Open Reading Frame 50 2 3 5

External Ids for C17orf50 Gene

Previous GeneCards Identifiers for C17orf50 Gene

  • GC17P031113
  • GC17P034087
  • GC17P030273

Summaries for C17orf50 Gene

GeneCards Summary for C17orf50 Gene

C17orf50 (Chromosome 17 Open Reading Frame 50) is a Protein Coding gene.

Additional gene information for C17orf50 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 C17orf50 Gene

Genomics for C17orf50 Gene

GeneHancer (GH) Regulatory Elements for C17orf50 Gene

Promoters and enhancers for C17orf50 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
GH17I035760 Promoter 0.5 EPDnew 550.8 +0.3 284 0.1 C17orf50 GC17P035762 MMP28 TAF15
GH17I035807 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.7 +48.8 48760 3.9 PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000270829 TAF15 C17orf50 GAS2L2 LIG3 MMP28 HEATR9 RDM1 AP2B1 ENSG00000270894
GH17I035783 Enhancer 1.2 Ensembl ENCODE dbSUPER 23.6 +25.9 25892 6.9 FOXA2 ZSCAN4 ZNF133 KLF17 YY1 ZEB1 ZNF335 RCOR1 FOS ATF7 C17orf50 GAS2L2 TAF15 RASL10B MMP28 RDM1 HEATR9 GC17P035762
GH17I035763 Enhancer 1.3 Ensembl ENCODE 19 +5.0 4950 3.6 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF213 ZNF143 ZNF548 KLF13 LIG3 ZNF830 LINC02001 PEX12 AP2B1 C17orf50 GAS2L2 CCT6B RAD51D GC17P035762
GH17I035878 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 14.5 +119.3 119302 3.2 HDGF PKNOX1 SMAD1 RB1 BATF KLF5 ZNF143 ATF7 ETV6 BCLAF1 CCL5 C17orf50 TAF15 GAS2L2 LOC105371744 ENSG00000270240
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C17orf50 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C17orf50 gene promoter:

Genomic Locations for C17orf50 Gene

Genomic Locations for C17orf50 Gene
chr17:35,760,593-35,765,079
(GRCh38/hg38)
Size:
4,487 bases
Orientation:
Plus strand
chr17:34,087,916-34,092,098
(GRCh37/hg19)

Genomic View for C17orf50 Gene

Genes around C17orf50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf50 Gene

Proteins for C17orf50 Gene

  • Protein details for C17orf50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WW18-CQ050_HUMAN
    Recommended name:
    Uncharacterized protein C17orf50
    Protein Accession:
    Q8WW18
    Secondary Accessions:
    • Q6Q621

    Protein attributes for C17orf50 Gene

    Size:
    174 amino acids
    Molecular mass:
    19346 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C17orf50 Gene

Post-translational modifications for C17orf50 Gene

No Post-translational modifications

Other Protein References for C17orf50 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C17orf50 Gene

Domains & Families for C17orf50 Gene

Gene Families for C17orf50 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C17orf50 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C17orf50: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C17orf50 Gene

Function for C17orf50 Gene

Phenotypes From GWAS Catalog for C17orf50 Gene

Phenotypes for C17orf50 Gene

GenomeRNAi human phenotypes for C17orf50:
genes like me logo Genes that share phenotypes with C17orf50: view

miRNA for C17orf50 Gene

miRTarBase miRNAs that target C17orf50

Clone 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 C17orf50 Gene

Localization for C17orf50 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 C17orf50 gene
Compartment Confidence
nucleus 3
extracellular 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C17orf50 Gene

Pathways & Interactions for C17orf50 Gene

SuperPathways for C17orf50 Gene

No Data Available

Interacting Proteins for C17orf50 Gene

Selected Interacting proteins: Q8WW18-CQ050_HUMAN for C17orf50 Gene via IID

Symbol External ID(s) Details
PIWIL1

Gene Ontology (GO) - Biological Process for C17orf50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C17orf50 Gene

Drugs & Compounds for C17orf50 Gene

No Compound Related Data Available

Transcripts for C17orf50 Gene

mRNA/cDNA for C17orf50 Gene

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

Unigene Clusters for C17orf50 Gene

Chromosome 17 open reading frame 50:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf50 Gene

No ASD Table

Relevant External Links for C17orf50 Gene

GeneLoc Exon Structure for
C17orf50
ECgene alternative splicing isoforms for
C17orf50

Expression for C17orf50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C17orf50 Gene

mRNA differential expression in normal tissues according to GTEx for C17orf50 Gene

This gene is overexpressed in Testis (x46.4).

NURSA nuclear receptor signaling pathways regulating expression of C17orf50 Gene:

C17orf50

SOURCE GeneReport for Unigene cluster for C17orf50 Gene:

Hs.127194
genes like me logo Genes that share expression patterns with C17orf50: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C17orf50 Gene

Orthologs for C17orf50 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C17orf50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf50 33
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia C9H17orf50 33
  • 88.38 (n)
cow
(Bos Taurus)
Mammalia C19H17orf50 33
  • 75.83 (n)
mouse
(Mus musculus)
Mammalia 1700020L24Rik 33 16
  • 74.95 (n)
rat
(Rattus norvegicus)
Mammalia LOC689039 33
  • 72.64 (n)
Species where no ortholog for C17orf50 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 C17orf50 Gene

ENSEMBL:
Gene Tree for C17orf50 (if available)
TreeFam:
Gene Tree for C17orf50 (if available)

Paralogs for C17orf50 Gene

No data available for Paralogs for C17orf50 Gene

Variants for C17orf50 Gene

Sequence variations from dbSNP and Humsavar for C17orf50 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1002296935 -- 35,759,657(+) C/T upstream_transcript_variant
rs1002347829 -- 35,759,820(+) C/T upstream_transcript_variant
rs1002981605 -- 35,764,357(+) G/A intron_variant
rs1004296619 -- 35,759,886(+) T/A upstream_transcript_variant
rs1004753345 -- 35,760,144(+) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C17orf50 Gene

Variant ID Type Subtype PubMed ID
esv3892999 CNV loss 25118596

Variation tolerance for C17orf50 Gene

Gene Damage Index Score: 8.24; 85.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C17orf50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C17orf50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf50 Gene

Disorders for C17orf50 Gene

Additional Disease Information for C17orf50

No disorders were found for C17orf50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C17orf50 Gene

Publications for C17orf50 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 58
  2. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 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 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for C17orf50 Gene

Sources for C17orf50 Gene

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