Aliases for C17orf50 Gene

Aliases for C17orf50 Gene

  • Chromosome 17 Open Reading Frame 50 2 3 5
  • Uncharacterized Protein C17orf50 3 4

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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH17J035763 Promoter/Enhancer 1.9 EPDnew ENCODE CraniofacialAtlas 518.9 +4.6 4609 2.9 EP300 CTCF MYC RBAK PHF8 TEAD4 ZNF639 ZNF354C ZIC2 ZBTB10 C17orf50 GAS2L2 lnc-GAS2L2-2 LIG3 ZNF830 SNHG30 PEX12 AP2B1 CCT6B RAD51D
GH17J035760 Promoter 0.3 EPDnew 500.7 +0.3 284 0.1 C17orf50 lnc-GAS2L2-2 MMP28 TAF15
GH17J035807 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.8 +49.0 49003 4.4 FOXK2 ZBTB40 EP300 CTCF TCF12 SIN3A POLR2G SP1 BCLAF1 NONO ENSG00000270829 TAF15 C17orf50 GAS2L2 MMP28 HEATR9 RDM1 AP2B1 ENSG00000270894
GH17J035799 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 26.5 +40.2 40208 3.6 REST MXI1 ZNF316 NCOR1 PBX2 SPI1 RCOR1 TAL1 ZNF335 MAX C17orf50 GAS2L2 ENSG00000270829 MMP28 TAF15
GH17J035783 Enhancer 1.2 Ensembl ENCODE dbSUPER 23.7 +25.9 25879 6.9 FOS TRIM28 EP300 ZEB1 ATF2 MXI1 FOXA2 RBM25 OSR2 NR2F2 HSALNG0115974 lnc-C17orf50-4 C17orf50 GAS2L2 TAF15 RASL10B MMP28 RDM1 HEATR9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C17orf50 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C17orf50

Top Transcription factor binding sites by QIAGEN in the C17orf50 gene promoter:
  • c-Ets-1
  • E47
  • Hand1
  • HOXA3
  • LCR-F1
  • Max1
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • POU2F1

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)
Size:
4,183 bases
Orientation:
Plus strand

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C17orf50 Gene

Function for C17orf50 Gene

Phenotypes From GWAS Catalog for C17orf50 Gene

Phenotypes for C17orf50 Gene

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

Animal Model Products

CRISPR Products

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 2
extracellular 1
cytosol 0

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

PathCards logo

SuperPathways for C17orf50 Gene

No Data Available

Interacting Proteins for C17orf50 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000475146 Q8WW18-CQ050_HUMAN for C17orf50 Gene via STRING IID

;

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 :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for C17orf50 Gene

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

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia C9H17orf50 30
  • 88.38 (n)
cow
(Bos Taurus)
Mammalia C19H17orf50 30
  • 75.83 (n)
mouse
(Mus musculus)
Mammalia 1700020L24Rik 17 30
  • 74.95 (n)
rat
(Rattus norvegicus)
Mammalia LOC689039 30
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C17orf50 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs4795087 - p.Asp22Glu

Additional dbSNP identifiers (rs#s) for C17orf50 Gene

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 54
  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 54
  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 54
  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 54

Products for C17orf50 Gene

Sources for C17orf50 Gene