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Aliases for C17orf47 Gene

Aliases for C17orf47 Gene

  • Chromosome 17 Open Reading Frame 47 2 3 5

External Ids for C17orf47 Gene

Previous GeneCards Identifiers for C17orf47 Gene

  • GC17M053974
  • GC17M056618
  • GC17M051979

Summaries for C17orf47 Gene

GeneCards Summary for C17orf47 Gene

C17orf47 (Chromosome 17 Open Reading Frame 47) is a Protein Coding gene.

Additional gene information for C17orf47 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 C17orf47 Gene

Genomics for C17orf47 Gene

GeneHancer (GH) Regulatory Elements for C17orf47 Gene

Promoters and enhancers for C17orf47 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
GH17I058544 Promoter 0.7 EPDnew 550.8 +0.0 42 0.1 CREB1 ATF2 C17orf47 SEPT4 SEPT4-AS1
GH17I058511 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +28.2 28156 8.9 ZFP64 YBX1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 MTMR4 TRIM37 RAD51C SRSF1 MKS1 HSF5 VEZF1 SEPT4 C17orf47 SMG8
GH17I058503 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.9 +39.4 39402 2.4 EBF1 IRF4 RELA ZNF143 ETV6 IKZF2 RUNX3 ZNF687 DPF2 ELF1 TRIM37 RAD51C RNF43 SEPT4 C17orf47 SUPT4H1 MKS1 MTMR4 PIR59993
GH17I058575 Enhancer 0.9 ENCODE 11.8 -32.2 -32213 2.6 ELF3 PKNOX1 FOXA2 NFXL1 YBX1 ZBTB40 RAD21 ZNF335 EGR1 ZNF366 TRIM37 RAD51C ENSG00000224738 C17orf47 SEPT4 MTMR4 TEX14 PIR55527
GH17I058506 Enhancer 0.9 ENCODE dbSUPER 10.9 +36.9 36902 1.9 TFAP4 FOXA2 ZSCAN4 MAX CEBPG ETS1 YY1 POLR2A HNF4G HLF TRIM37 SEPT4 C17orf47 RNF43 SUPT4H1 MKS1 MTMR4 PIR59993
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C17orf47 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C17orf47 gene promoter:

Genomic Locations for C17orf47 Gene

Genomic Locations for C17orf47 Gene
chr17:58,540,681-58,544,372
(GRCh38/hg38)
Size:
3,692 bases
Orientation:
Minus strand
chr17:56,618,948-56,621,733
(GRCh37/hg19)

Genomic View for C17orf47 Gene

Genes around C17orf47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf47 Gene

Proteins for C17orf47 Gene

  • Protein details for C17orf47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEP4-CQ047_HUMAN
    Recommended name:
    Uncharacterized protein C17orf47
    Protein Accession:
    Q8NEP4
    Secondary Accessions:
    • Q8N821

    Protein attributes for C17orf47 Gene

    Size:
    570 amino acids
    Molecular mass:
    63111 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C17orf47 Gene

Post-translational modifications for C17orf47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C17orf47 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C17orf47 Gene

Domains & Families for C17orf47 Gene

Gene Families for C17orf47 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C17orf47 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C17orf47: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C17orf47 Gene

Function for C17orf47 Gene

Phenotypes From GWAS Catalog for C17orf47 Gene

Phenotypes for C17orf47 Gene

genes like me logo Genes that share phenotypes with C17orf47: 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 C17orf47 Gene

Localization for C17orf47 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 C17orf47 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 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 C17orf47 Gene

Pathways & Interactions for C17orf47 Gene

SuperPathways for C17orf47 Gene

No Data Available

Interacting Proteins for C17orf47 Gene

Gene Ontology (GO) - Biological Process for C17orf47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C17orf47 Gene

Drugs & Compounds for C17orf47 Gene

No Compound Related Data Available

Transcripts for C17orf47 Gene

mRNA/cDNA for C17orf47 Gene

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

Unigene Clusters for C17orf47 Gene

Chromosome 17 open reading frame 47:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf47 Gene

No ASD Table

Relevant External Links for C17orf47 Gene

GeneLoc Exon Structure for
C17orf47
ECgene alternative splicing isoforms for
C17orf47

Expression for C17orf47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C17orf47 Gene

mRNA differential expression in normal tissues according to GTEx for C17orf47 Gene

This gene is overexpressed in Testis (x16.4).

Protein differential expression in normal tissues from HIPED for C17orf47 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C17orf47 Gene



Protein tissue co-expression partners for C17orf47 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C17orf47 Gene:

C17orf47

SOURCE GeneReport for Unigene cluster for C17orf47 Gene:

Hs.646574
genes like me logo Genes that share expression patterns with C17orf47: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C17orf47 Gene

Orthologs for C17orf47 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C17orf47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf47 33
  • 99.12 (n)
C17orf47 34
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm11492 34
  • 53 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C17orf47 34
  • 52 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C17orf47 34
  • 34 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf47 34
  • 31 (a)
OneToOne
Species where no ortholog for C17orf47 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 C17orf47 Gene

ENSEMBL:
Gene Tree for C17orf47 (if available)
TreeFam:
Gene Tree for C17orf47 (if available)

Paralogs for C17orf47 Gene

No data available for Paralogs for C17orf47 Gene

Variants for C17orf47 Gene

Sequence variations from dbSNP and Humsavar for C17orf47 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000222330 -- 58,544,766(-) C/A upstream_transcript_variant
rs1001406580 -- 58,546,121(-) G/A upstream_transcript_variant
rs1002225567 -- 58,541,683(-) A/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1003067105 -- 58,544,568(-) G/T upstream_transcript_variant
rs1003618394 -- 58,545,270(-) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C17orf47 Gene

Variant ID Type Subtype PubMed ID
esv3640887 CNV loss 21293372

Variation tolerance for C17orf47 Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C17orf47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C17orf47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf47 Gene

Disorders for C17orf47 Gene

Additional Disease Information for C17orf47

No disorders were found for C17orf47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C17orf47 Gene

Publications for C17orf47 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. Meta-analysis identifies four new loci associated with testicular germ cell tumor. (PMID: 23666239) Chung CC … Nathanson KL (Nature genetics 2013) 3 58
  3. 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
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 58
  5. 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) 4 58

Products for C17orf47 Gene

Sources for C17orf47 Gene

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