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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.

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

Regulatory Elements for C17orf50 Gene

Enhancers for C17orf50 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
GH17G035783 1.4 Ensembl ENCODE dbSUPER 23.6 +25.9 25892 6.9 TBP ZSCAN4 ZNF133 KLF17 RAD21 ZEB1 YY1 RCOR1 FOS CEBPB C17orf50 GAS2L2 TAF15 RASL10B MMP28 RDM1 HEATR9 GC17P035762
GH17G035763 1.4 Ensembl ENCODE 19 +5.0 4950 3.6 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF548 ZNF263 ENSG00000270871 LIG3 ZNF830 ENSG00000274756 LINC02001 C17orf50 ENSG00000270894 GAS2L2 GC17P035762 MMP28
GH17G035895 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.2 +138.7 138710 8.1 PKNOX1 FEZF1 RAD21 FOS RELB ETV6 IKZF2 ZNF680 CBFB CEBPB C17orf50 CCL5 GAS2L2 TAF15 HEATR9 SLFN12L SLFN14 PIR57610 GC17M035909 GC17M035888
GH17G035801 0.9 Ensembl ENCODE 26.5 +41.2 41201 1.1 MTA2 TAL1 REST DPF2 TCF12 ARID1B NCOR1 PBX2 SCRT2 ZBTB33 C17orf50 GC17P035798 PIR58663 GC17P035797 ENSG00000270829
GH17G035878 1.4 Ensembl ENCODE dbSUPER 14.5 +119.3 119302 3.2 HDGF TBP PKNOX1 EGR1 GATA2 ZNF143 RELB ETV6 IKZF2 CREM C17orf50 TAF15 GAS2L2 CCL5 ENSG00000270240
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C17orf50 on UCSC Golden Path with GeneCards custom track

Genomic Location for C17orf50 Gene

Chromosome:
17
Start:
35,760,593 bp from pter
End:
35,765,079 bp from pter
Size:
4,487 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

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 Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C17orf50 Gene

Function for C17orf50 Gene

Phenotypes for C17orf50 Gene

GenomeRNAi human phenotypes for C17orf50:
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

Inhibitory RNA Products

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

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:

CRISPR Products

Inhibitory RNA 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
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

Primer Products

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 34
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia C9H17orf50 34
  • 88.38 (n)
cow
(Bos Taurus)
Mammalia C19H17orf50 34
  • 75.83 (n)
mouse
(Mus musculus)
Mammalia 1700020L24Rik 34 16
  • 74.95 (n)
rat
(Rattus norvegicus)
Mammalia LOC689039 34
  • 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 Sequence Context AA Info Type
rs1002296935 -- 35,759,657(+) GATTG(C/T)GCCAC intron-variant, upstream-variant-2KB
rs1002347829 -- 35,759,820(+) GACAC(C/T)GAAGC intron-variant, upstream-variant-2KB
rs1002981605 -- 35,764,357(+) ACGAG(A/G)GAGGC intron-variant
rs1004296619 -- 35,759,886(+) TTGTC(A/T)CTGAC intron-variant, upstream-variant-2KB
rs1004753345 -- 35,760,144(+) ATCAC(A/T)ATTAG intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for C17orf50

Human Genome Epidemiology (HuGE) Navigator
C17orf50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.D. … Anand S. (Diabetes Care 2010) 3 64
  2. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3 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 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for C17orf50 Gene

Sources for C17orf50 Gene

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