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Aliases for C2orf47 Gene

Aliases for C2orf47 Gene

  • Chromosome 2 Open Reading Frame 47 2 3 5

External Ids for C2orf47 Gene

Previous GeneCards Identifiers for C2orf47 Gene

  • GC02P200528
  • GC02P200820
  • GC02P192672

Summaries for C2orf47 Gene

GeneCards Summary for C2orf47 Gene

C2orf47 (Chromosome 2 Open Reading Frame 47) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2orf47 Gene

Genomics for C2orf47 Gene

Regulatory Elements for C2orf47 Gene

Enhancers for C2orf47 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C2orf47 on UCSC Golden Path with GeneCards custom track

Promoters for C2orf47 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C2orf47 on UCSC Golden Path with GeneCards custom track

Genomic Location for C2orf47 Gene

Chromosome:
2
Start:
199,955,317 bp from pter
End:
200,008,540 bp from pter
Size:
53,224 bases
Orientation:
Plus strand

Genomic View for C2orf47 Gene

Genes around C2orf47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf47 Gene

Proteins for C2orf47 Gene

  • Protein details for C2orf47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWC4-CB047_HUMAN
    Recommended name:
    Uncharacterized protein C2orf47, mitochondrial
    Protein Accession:
    Q8WWC4
    Secondary Accessions:
    • Q658V9
    • Q9H671

    Protein attributes for C2orf47 Gene

    Size:
    291 amino acids
    Molecular mass:
    32545 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf47 Gene

Proteomics data for C2orf47 Gene at MOPED

Post-translational modifications for C2orf47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf47 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2orf47 Gene

Domains & Families for C2orf47 Gene

Protein Domains for C2orf47 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf47: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf47 Gene

Function for C2orf47 Gene

genes like me logo Genes that share phenotypes with C2orf47: view

Animal Model Products

CRISPR Products

miRNA for C2orf47 Gene

miRTarBase miRNAs that target C2orf47

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 C2orf47 Gene

Localization for C2orf47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2orf47 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C2orf47 Gene COMPARTMENTS Subcellular localization image for C2orf47 gene
Compartment Confidence
mitochondrion 5
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for C2orf47 Gene

Pathways & Interactions for C2orf47 Gene

SuperPathways for C2orf47 Gene

No Data Available

Interacting Proteins for C2orf47 Gene

Gene Ontology (GO) - Biological Process for C2orf47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf47 Gene

Drugs & Compounds for C2orf47 Gene

No Compound Related Data Available

Transcripts for C2orf47 Gene

Unigene Clusters for C2orf47 Gene

Chromosome 2 open reading frame 47:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf47 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: -

Relevant External Links for C2orf47 Gene

GeneLoc Exon Structure for
C2orf47
ECgene alternative splicing isoforms for
C2orf47

Expression for C2orf47 Gene

mRNA expression in normal human tissues for C2orf47 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C2orf47 Gene

This gene is overexpressed in Nasal epithelium (30.7) and Bone (19.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C2orf47 Gene



SOURCE GeneReport for Unigene cluster for C2orf47 Gene Hs.154494

genes like me logo Genes that share expression patterns with C2orf47: view

Protein tissue co-expression partners for C2orf47 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C2orf47 Gene

Orthologs for C2orf47 Gene

This gene was present in the common ancestor of animals.

Orthologs for C2orf47 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C2H2orf47 35
  • 86.72 (n)
  • 80.44 (a)
C2orf47 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C37H2orf47 35
  • 87.36 (n)
  • 82.53 (a)
-- 36
  • 81 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 9430016H08Rik 35
  • 81.56 (n)
  • 77.32 (a)
9430016H08Rik 16
9430016H08Rik 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C2BH2orf47 35
  • 98.97 (n)
  • 98.63 (a)
C2orf47 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia MGC94335 35
  • 80.87 (n)
  • 76.29 (a)
oppossum
(Monodelphis domestica)
Mammalia C2orf47 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf47 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2ORF47 35
  • 63.55 (n)
  • 51.87 (a)
C2orf47 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf47 35
  • 58.55 (n)
  • 50.56 (a)
Str.10159 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.32021 35
zebrafish
(Danio rerio)
Actinopterygii Dr.10129 35
zgc:123096 35
  • 62.17 (n)
  • 58 (a)
C9H2orf47 36
  • 50 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7637 35
fruit fly
(Drosophila melanogaster)
Insecta CG3776 36
  • 22 (a)
OneToOne
Species with no ortholog for C2orf47:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2orf47 Gene

ENSEMBL:
Gene Tree for C2orf47 (if available)
TreeFam:
Gene Tree for C2orf47 (if available)

Paralogs for C2orf47 Gene

No data available for Paralogs for C2orf47 Gene

Variants for C2orf47 Gene

Sequence variations from dbSNP and Humsavar for C2orf47 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs2118548 - 199,963,803(-) TTCTA(A/T)TAATT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1042962 -- 199,963,994(+) TTATC(A/C)CCTTC downstream-variant-500B, utr-variant-3-prime
rs5837717 -- 199,964,485(+) TACAC(-/T)TTTTT downstream-variant-500B
rs166845 -- 199,958,637(-) TCTAC(A/T)TGGGA intron-variant
rs281767 -- 199,958,558(-) CAGAA(G/T)AGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf47 Gene

Variant ID Type Subtype PubMed ID
nsv875704 CNV Gain 21882294
nsv834510 CNV Loss 17160897

Variation tolerance for C2orf47 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.94% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for C2orf47 Gene

Disorders for C2orf47 Gene

Relevant External Links for C2orf47

Genetic Association Database (GAD)
C2orf47
Human Genome Epidemiology (HuGE) Navigator
C2orf47
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf47

No disorders were found for C2orf47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf47 Gene

Publications for C2orf47 Gene

  1. Open reading frames associated with cancer in the dark matter of the human genome. (PMID: 25048349) Delgado A.P. … Narayanan R. (Cancer Genomics Proteomics 2014) 2 3 67
  2. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3
  3. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3
  4. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3

Products for C2orf47 Gene

Sources for C2orf47 Gene

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