Aliases for C5orf47 Gene

Aliases for C5orf47 Gene

  • Chromosome 5 Open Reading Frame 47 2 3 5
  • Uncharacterized Protein C5orf47 3 4

External Ids for C5orf47 Gene

Previous GeneCards Identifiers for C5orf47 Gene

  • GC05P173334
  • GC05P168512
  • GC05P173400

Summaries for C5orf47 Gene

GeneCards Summary for C5orf47 Gene

C5orf47 (Chromosome 5 Open Reading Frame 47) is a Protein Coding gene.

Additional gene information for C5orf47 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 C5orf47 Gene

Genomics for C5orf47 Gene

GeneHancer (GH) Regulatory Elements for C5orf47 Gene

Promoters and enhancers for C5orf47 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
GH05J173972 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.3 258 2.9 CTCF ZBTB6 ZNF362 CC2D1A ELF1 HLF L3MBTL2 MAX RAD21 TEAD4 C5orf47 HSALNG0046736 CREBRF
GH05J173962 Promoter/Enhancer 1.3 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 750.4 -10.2 -10214 2.4 POLR2A REST ELF1 HSALNG0046734 RF00017-5119 C5orf47 CPEB4 NSG2
GH05J173989 Promoter 0.3 EPDnew 750.4 +15.4 15372 0.1 C5orf47 ENSG00000253244 BOD1 HSALNG0046736 RPL12P22 lnc-BOD1-6
GH05J173917 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -54.2 -54216 4.8 SIN3A ZNF24 SP1 SREBF1 SIX5 CTBP1 ATF1 CREB1 ZNF362 HLF BOD1 C5orf47 NSG2 CREBRF ENSG00000253955 HSALNG0046732 CPEB4 RF00017-5119
GH05J173757 Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -210.4 -210378 11.2 SIN3A ZBTB40 SREBF1 FOXA1 LCORL ZBTB6 MLX SMARCE1 RBPJ POLR2A CREBRF ENSG00000253955 ERGIC1 C5orf47 BOD1 STC2 CPEB4 ATP6V0E1 ENSG00000287003 lnc-CPEB4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C5orf47 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C5orf47 gene promoter:
  • Cart-1
  • E47
  • HNF-3beta
  • MyoD
  • Pax-4a
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Tal-1

Genomic Locations for C5orf47 Gene

Genomic Locations for C5orf47 Gene
chr5:173,973,779-174,006,140
(GRCh38/hg38)
Size:
32,362 bases
Orientation:
Plus strand
chr5:173,400,782-173,433,143
(GRCh37/hg19)
Size:
32,362 bases
Orientation:
Plus strand

Genomic View for C5orf47 Gene

Genes around C5orf47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf47 Gene

Proteins for C5orf47 Gene

  • Protein details for C5orf47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q569G3-CE047_HUMAN
    Recommended name:
    Uncharacterized protein C5orf47
    Protein Accession:
    Q569G3
    Secondary Accessions:
    • Q8IYU7

    Protein attributes for C5orf47 Gene

    Size:
    176 amino acids
    Molecular mass:
    19206 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34971.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH92489.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for C5orf47 Gene

Post-translational modifications for C5orf47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C5orf47 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C5orf47 Gene

Domains & Families for C5orf47 Gene

Gene Families for C5orf47 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C5orf47 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C5orf47: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C5orf47 Gene

Function for C5orf47 Gene

Phenotypes From GWAS Catalog for C5orf47 Gene

Phenotypes for C5orf47 Gene

genes like me logo Genes that share phenotypes with C5orf47: view

Animal Model Products

CRISPR Products

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 C5orf47 Gene

Localization for C5orf47 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 C5orf47 gene
Compartment Confidence
nucleus 2
cytosol 1
mitochondrion 0

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 C5orf47 Gene

Pathways & Interactions for C5orf47 Gene

PathCards logo

SuperPathways for C5orf47 Gene

No Data Available

Interacting Proteins for C5orf47 Gene

Gene Ontology (GO) - Biological Process for C5orf47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C5orf47 Gene

Drugs & Compounds for C5orf47 Gene

No Compound Related Data Available

Transcripts for C5orf47 Gene

mRNA/cDNA for C5orf47 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(2) 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 C5orf47 Gene

No ASD Table

Relevant External Links for C5orf47 Gene

GeneLoc Exon Structure for
C5orf47
ECgene alternative splicing isoforms for
C5orf47

Expression for C5orf47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C5orf47 Gene

mRNA differential expression in normal tissues according to GTEx for C5orf47 Gene

This gene is overexpressed in Testis (x44.2).

Protein differential expression in normal tissues from HIPED for C5orf47 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C5orf47 Gene



Protein tissue co-expression partners for C5orf47 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C5orf47 Gene:

C5orf47

SOURCE GeneReport for Unigene cluster for C5orf47 Gene:

Hs.131469
genes like me logo Genes that share expression patterns with C5orf47: 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 C5orf47 Gene

Orthologs for C5orf47 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C5orf47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5H5orf47 32
  • 98.67 (n)
C5orf47 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C5orf47 33
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4930524B15Rik 17 33 32
  • 66.25 (n)
rat
(Rattus norvegicus)
Mammalia RGD1311343 32
  • 64.95 (n)
Species where no ortholog for C5orf47 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)
  • cow (Bos Taurus)
  • 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 C5orf47 Gene

ENSEMBL:
Gene Tree for C5orf47 (if available)
TreeFam:
Gene Tree for C5orf47 (if available)

Paralogs for C5orf47 Gene

No data available for Paralogs for C5orf47 Gene

Variants for C5orf47 Gene

Sequence variations from dbSNP and Humsavar for C5orf47 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000005521 -- 174,005,059(+) G/A 3_prime_UTR_variant, intron_variant
rs1000104273 -- 173,988,214(+) C/G/T upstream_transcript_variant
rs1000316627 -- 173,998,451(+) A/G intron_variant
rs1000325513 -- 173,992,228(+) G/T intron_variant
rs1000357360 -- 173,992,928(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C5orf47 Gene

Variant ID Type Subtype PubMed ID
dgv1667e212 CNV loss 25503493
esv2497414 CNV deletion 19546169
nsv600298 CNV gain 21841781
nsv600323 CNV gain 21841781

Variation tolerance for C5orf47 Gene

Gene Damage Index Score: 3.36; 53.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C5orf47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf47 Gene

Disorders for C5orf47 Gene

Additional Disease Information for C5orf47

No disorders were found for C5orf47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C5orf47 Gene

Publications for C5orf47 Gene

  1. 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) 2 3 56
  2. 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 56
  3. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 4 56

Products for C5orf47 Gene

Sources for C5orf47 Gene