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Aliases for C4orf47 Gene

Aliases for C4orf47 Gene

  • Chromosome 4 Open Reading Frame 47 2 3 5

External Ids for C4orf47 Gene

Previous GeneCards Identifiers for C4orf47 Gene

  • GC04P186587
  • GC04P186350
  • GC04P182103

Summaries for C4orf47 Gene

GeneCards Summary for C4orf47 Gene

C4orf47 (Chromosome 4 Open Reading Frame 47) is a Protein Coding gene.

Additional gene information for C4orf47 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 C4orf47 Gene

Genomics for C4orf47 Gene

GeneHancer (GH) Regulatory Elements for C4orf47 Gene

Promoters and enhancers for C4orf47 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
GH04I185425 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.1 +20.6 20573 2 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 YY1 POLR2B CBX5 UFSP2 GC04P185428 PRIMPOL C4orf47 ENSG00000207231 GC04M185416
GH04I185394 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 -9.1 -9058 3.8 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 LRP2BP GC04M185389 ANKRD37 UFSP2 LOC105377591 C4orf47 SNX25 CFAP97
GH04I185222 Enhancer 0.5 ENCODE 5.3 -182.3 -182335 1.2 ZNF202 ZNF211 ZBTB33 SETDB1 PRIMPOL CFAP97 C4orf47 SNX25 LOC105377591
GH04I185398 Enhancer 0.7 Ensembl ENCODE 0.4 -5.8 -5831 1.2 NFATC1 JUNB ELF1 BATF SPI1 UFSP2 LRP2BP ANKRD37 C4orf47
GH04I185424 Enhancer 0.2 Ensembl 0.4 +19.0 18966 0.4 UFSP2 LRP2BP ENSG00000207231 GC04M185416 C4orf47
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C4orf47 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C4orf47 gene promoter:

Genomic Locations for C4orf47 Gene

Genomic Locations for C4orf47 Gene
chr4:185,405,235-185,449,828
(GRCh38/hg38)
Size:
44,594 bases
Orientation:
Plus strand
chr4:186,347,394-186,370,980
(GRCh37/hg19)

Genomic View for C4orf47 Gene

Genes around C4orf47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C4orf47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C4orf47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C4orf47 Gene

Proteins for C4orf47 Gene

  • Protein details for C4orf47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A7E2U8-CD047_HUMAN
    Recommended name:
    UPF0602 protein C4orf47
    Protein Accession:
    A7E2U8
    Secondary Accessions:
    • Q5BLP7

    Protein attributes for C4orf47 Gene

    Size:
    309 amino acids
    Molecular mass:
    34376 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C4orf47 Gene

Post-translational modifications for C4orf47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C4orf47 Gene

Domains & Families for C4orf47 Gene

Gene Families for C4orf47 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C4orf47 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C4orf47 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A7E2U8

UniProtKB/Swiss-Prot:

CD047_HUMAN :
  • Belongs to the UPF0602 family.
Family:
  • Belongs to the UPF0602 family.
genes like me logo Genes that share domains with C4orf47: view

Function for C4orf47 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C4orf47 Gene

Localization for C4orf47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C4orf47 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

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 C4orf47 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C4orf47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 25074808
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with C4orf47: view

Pathways & Interactions for C4orf47 Gene

SuperPathways for C4orf47 Gene

No Data Available

Interacting Proteins for C4orf47 Gene

Gene Ontology (GO) - Biological Process for C4orf47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C4orf47 Gene

Drugs & Compounds for C4orf47 Gene

No Compound Related Data Available

Transcripts for C4orf47 Gene

Unigene Clusters for C4orf47 Gene

Chromosome 4 open reading frame 47:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C4orf47 Gene

No ASD Table

Relevant External Links for C4orf47 Gene

GeneLoc Exon Structure for
C4orf47
ECgene alternative splicing isoforms for
C4orf47

Expression for C4orf47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C4orf47 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C4orf47 Gene

This gene is overexpressed in Testis (x6.8) and Brain - Caudate (basal ganglia) (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of C4orf47 Gene:

C4orf47

SOURCE GeneReport for Unigene cluster for C4orf47 Gene:

Hs.549398

mRNA Expression by UniProt/SwissProt for C4orf47 Gene:

A7E2U8-CD047_HUMAN
Tissue specificity: Detected in testis and fetal liver.
genes like me logo Genes that share expression patterns with C4orf47: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C4orf47 Gene

Orthologs for C4orf47 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C4orf47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4H4orf47 33
  • 98.17 (n)
C4orf47 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C16H4orf47 33
  • 89.21 (n)
C4orf47 34
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C27H4orf47 33
  • 87.27 (n)
C4orf47 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1564308 33
  • 81.64 (n)
mouse
(Mus musculus)
Mammalia 1700029J07Rik 33 16 34
  • 81.2 (n)
oppossum
(Monodelphis domestica)
Mammalia C4orf47 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf47 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4H4ORF47 33
  • 72.62 (n)
C4orf47 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf47 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c4orf47 33
  • 63.82 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:153146 33
  • 62.56 (n)
C14H4orf47 34
  • 55 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
OneToOne
Species where no ortholog for C4orf47 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C4orf47 Gene

ENSEMBL:
Gene Tree for C4orf47 (if available)
TreeFam:
Gene Tree for C4orf47 (if available)

Paralogs for C4orf47 Gene

No data available for Paralogs for C4orf47 Gene

Variants for C4orf47 Gene

Sequence variations from dbSNP and Humsavar for C4orf47 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs796052130 pathogenic, Hip dysplasia, beukes type 185,408,399(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000009846 -- 185,418,288(+) C/T genic_upstream_transcript_variant, intron_variant
rs10000869 -- 185,418,295(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000093655 -- 185,406,912(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000106455 -- 185,411,482(+) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C4orf47 Gene

Variant ID Type Subtype PubMed ID
dgv5493n100 CNV gain 25217958
esv1192975 CNV insertion 17803354
esv2759309 CNV loss 17122850
esv3603492 CNV gain 21293372
esv3603494 CNV gain 21293372
esv3603496 CNV gain 21293372
esv3603497 CNV gain 21293372
esv3894088 CNV gain 25118596
nsv1033523 CNV gain 25217958
nsv1141995 OTHER inversion 24896259
nsv428456 CNV gain+loss 18775914
nsv4638 CNV insertion 18451855
nsv517035 CNV gain+loss 19592680
nsv527026 CNV gain 19592680

Variation tolerance for C4orf47 Gene

Gene Damage Index Score: 3.64; 56.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C4orf47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C4orf47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C4orf47 Gene

Disorders for C4orf47 Gene

Additional Disease Information for C4orf47

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for C4orf47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C4orf47 Gene

Publications for C4orf47 Gene

  1. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. (PMID: 25074808) Firat-Karalar EN … Stearns T (Journal of cell science 2014) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. (PMID: 15809229) Castelo R … Eyras E (Nucleic acids research 2005) 3 4 58
  4. 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 4 58
  5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R … Stanton LW (Nature biotechnology 2004) 3 58

Products for C4orf47 Gene

Sources for C4orf47 Gene

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