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Aliases for C6orf223 Gene

Aliases for C6orf223 Gene

  • Chromosome 6 Open Reading Frame 223 2 3 5

External Ids for C6orf223 Gene

Previous GeneCards Identifiers for C6orf223 Gene

  • GC06P044077
  • GC06P043690

Summaries for C6orf223 Gene

GeneCards Summary for C6orf223 Gene

C6orf223 (Chromosome 6 Open Reading Frame 223) is a Protein Coding gene.

Additional gene information for C6orf223 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 C6orf223 Gene

Genomics for C6orf223 Gene

GeneHancer (GH) Regulatory Elements for C6orf223 Gene

Promoters and enhancers for C6orf223 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
GH06I043999 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.8 2751 7.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 POLR2B ZNF766 ZNF207 ZNF143 C6orf223 ZNF318 LOC101929705 CDC5L RPL34P14 CUL7 GC06P044013
GH06I044033 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13 +35.0 35022 3.6 TFAP4 MAX EBF1 CEBPG ZNF644 RAD21 ZNF48 TEAD3 SLC30A9 POLR2A NFKBIE C6orf223 VEGFA RSPH9 SLC29A1 GTPBP2 MAD2L1BP GC06P044013 LOC101929705 GC06M044069
GH06I043977 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12.5 -22.9 -22872 1 HDGF PKNOX1 SMAD1 BMI1 YBX1 BATF IRF4 ZNF143 ATF7 ETV6 C6orf223 NFKBIE GC06M043993 LOC105375067
GH06I044028 Enhancer 0.8 ENCODE dbSUPER 13 +28.9 28922 1.5 MEIS2 CTCF PKNOX1 CBFA2T3 ZFHX2 RCOR1 FOXP2 EGR2 CHD2 C6orf223 RSPH9 SLC29A1 GC06P044013 GC06M044069 LOC101929705
GH06I044071 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +74.0 73960 6.6 HDGF HNRNPUL1 PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B ZNF2 YY1 LOC101929705 GC06M044069 ENSG00000231881 ZNF318 GTPBP2 POLH ABCC10 VEGFA RPS2P29 RPL34P14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C6orf223 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C6orf223 gene promoter:

Genomic Locations for C6orf223 Gene

Genomic Locations for C6orf223 Gene
chr6:44,000,580-44,005,958
(GRCh38/hg38)
Size:
5,379 bases
Orientation:
Plus strand
chr6:43,968,317-43,973,695
(GRCh37/hg19)

Genomic View for C6orf223 Gene

Genes around C6orf223 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6orf223 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C6orf223 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C6orf223 Gene

Proteins for C6orf223 Gene

  • Protein details for C6orf223 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N319-CF223_HUMAN
    Recommended name:
    Uncharacterized protein C6orf223
    Protein Accession:
    Q8N319
    Secondary Accessions:
    • E9PB59
    • Q8N575

    Protein attributes for C6orf223 Gene

    Size:
    242 amino acids
    Molecular mass:
    26113 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32706.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for C6orf223 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C6orf223 Gene

Post-translational modifications for C6orf223 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C6orf223 Gene

No data available for DME Specific Peptides for C6orf223 Gene

Domains & Families for C6orf223 Gene

Gene Families for C6orf223 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C6orf223 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C6orf223: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C6orf223 Gene

Function for C6orf223 Gene

Phenotypes From GWAS Catalog for C6orf223 Gene

Phenotypes for C6orf223 Gene

GenomeRNAi human phenotypes for C6orf223:
genes like me logo Genes that share phenotypes with C6orf223: view

Clone Products

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 C6orf223 Gene

Localization for C6orf223 Gene

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for C6orf223 Gene

Pathways & Interactions for C6orf223 Gene

SuperPathways for C6orf223 Gene

No Data Available

Interacting Proteins for C6orf223 Gene

Gene Ontology (GO) - Biological Process for C6orf223 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C6orf223 Gene

Drugs & Compounds for C6orf223 Gene

No Compound Related Data Available

Transcripts for C6orf223 Gene

Unigene Clusters for C6orf223 Gene

Chromosome 6 open reading frame 223:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C6orf223 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for C6orf223 Gene

GeneLoc Exon Structure for
C6orf223
ECgene alternative splicing isoforms for
C6orf223

Expression for C6orf223 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C6orf223 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C6orf223 Gene

This gene is overexpressed in Lung (x8.1) and Kidney - Cortex (x4.6).

Protein differential expression in normal tissues from HIPED for C6orf223 Gene

This gene is overexpressed in Neutrophil (45.8) and Pancreas (21.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C6orf223 Gene



Protein tissue co-expression partners for C6orf223 Gene

NURSA nuclear receptor signaling pathways regulating expression of C6orf223 Gene:

C6orf223

SOURCE GeneReport for Unigene cluster for C6orf223 Gene:

Hs.531926
genes like me logo Genes that share expression patterns with C6orf223: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C6orf223 Gene

Orthologs for C6orf223 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C6orf223 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6orf223 34
  • 100 (a)
OneToOne
C6H6orf223 33
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia C23H6orf223 33
  • 72.27 (n)
Species where no ortholog for C6orf223 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)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 C6orf223 Gene

ENSEMBL:
Gene Tree for C6orf223 (if available)
TreeFam:
Gene Tree for C6orf223 (if available)

Paralogs for C6orf223 Gene

No data available for Paralogs for C6orf223 Gene

Variants for C6orf223 Gene

Sequence variations from dbSNP and Humsavar for C6orf223 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000045326 -- 44,000,362(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000111831 -- 44,005,347(+) T/C 3_prime_UTR_variant
rs1000219982 -- 43,999,966(+) A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000240414 -- 44,005,003(+) T/A 3_prime_UTR_variant
rs1001516579 -- 44,001,212(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C6orf223 Gene

Variant ID Type Subtype PubMed ID
esv2732001 CNV deletion 23290073
esv2732002 CNV deletion 23290073
nsv462934 CNV loss 19166990
nsv471815 CNV novel sequence insertion 20440878
nsv475668 CNV novel sequence insertion 20440878
nsv475853 CNV novel sequence insertion 20440878
nsv509131 CNV insertion 20534489
nsv603001 CNV loss 21841781

Variation tolerance for C6orf223 Gene

Residual Variation Intolerance Score: 97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C6orf223 Gene

Human Gene Mutation Database (HGMD)
C6orf223
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C6orf223

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C6orf223 Gene

Disorders for C6orf223 Gene

Additional Disease Information for C6orf223

No disorders were found for C6orf223 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C6orf223 Gene

Publications for C6orf223 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 58
  2. Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. (PMID: 21757650) Debette S … Seshadri S (Circulation research 2011) 3 58
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 4 58
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3

Products for C6orf223 Gene

Sources for C6orf223 Gene

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