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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.

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

Regulatory Elements for C4orf47 Gene

Enhancers for C4orf47 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
GH04G185425 1.1 ENCODE 11.1 +20.6 20572 2.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 CBX5 UFSP2 C4orf47 GC04M185416 ENSG00000207231
GH04G185222 0.7 ENCODE 5.3 -182.3 -182335 1.2 ZNF202 CTCF ZNF211 L3MBTL2 MAX RBBP5 MNT YY1 ZNF335 ZNF547 CFAP97 C4orf47 LOC105377591
GH04G185398 0.8 Ensembl ENCODE 0.4 -5.8 -5831 1.2 TBL1XR1 ELK1 JUNB ATF2 ZBTB40 SPI1 UFSP2 LRP2BP C4orf47
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C4orf47 on UCSC Golden Path with GeneCards custom track

Genomic Location for C4orf47 Gene

Chromosome:
4
Start:
185,405,235 bp from pter
End:
185,449,828 bp from pter
Size:
44,594 bases
Orientation:
Plus strand

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

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

No data available for Gene Families for C4orf47 Gene

Function for C4orf47 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

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:

CRISPR Products

Inhibitory RNA 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

Primer Products

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 34
  • 98.17 (n)
C4orf47 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C16H4orf47 34
  • 89.21 (n)
C4orf47 35
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C27H4orf47 34
  • 87.27 (n)
C4orf47 35
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1564308 34
  • 81.64 (n)
mouse
(Mus musculus)
Mammalia 1700029J07Rik 34 16 35
  • 81.2 (n)
oppossum
(Monodelphis domestica)
Mammalia C4orf47 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf47 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4H4ORF47 34
  • 72.62 (n)
C4orf47 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf47 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c4orf47 34
  • 63.82 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:153146 34
  • 62.56 (n)
C14H4orf47 35
  • 55 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs796052130 Pathogenic 185,408,399(-) ATCAT(C/T)ATATG intron-variant, nc-transcript-variant, reference, missense
rs1000009846 -- 185,418,288(+) TAAGA(C/T)AAACA intron-variant
rs10000869 -- 185,418,295(+) AACAT(A/G)TAACT intron-variant
rs1000093655 -- 185,406,912(+) AACCA(A/C)TGAGG intron-variant
rs1000106455 -- 185,411,482(+) ATCAT(G/T)CACGA intron-variant, utr-variant-5-prime

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)

Relevant External Links 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

Relevant External Links for C4orf47

Genetic Association Database (GAD)
C4orf47
Human Genome Epidemiology (HuGE) Navigator
C4orf47
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C4orf47

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 E.N. … Stearns T. (J. Cell Sci. 2014) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 Res. 2005) 3 4 64
  4. 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 4 64
  5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 64

Products for C4orf47 Gene

Sources for C4orf47 Gene

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