Aliases for C2orf69 Gene

Aliases for C2orf69 Gene

  • Chromosome 2 Open Reading Frame 69 2 3 5
  • UPF0565 Protein C2orf69 3 4
  • Hypothetical Protein FLJ38973 2

External Ids for C2orf69 Gene

Previous GeneCards Identifiers for C2orf69 Gene

  • GC02P200485
  • GC02P200775
  • GC02P192628

Summaries for C2orf69 Gene

GeneCards Summary for C2orf69 Gene

C2orf69 (Chromosome 2 Open Reading Frame 69) is a Protein Coding gene. Diseases associated with C2orf69 include Hereditary Breast Ovarian Cancer Syndrome.

Additional gene information for C2orf69 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 C2orf69 Gene

Genomics for C2orf69 Gene

GeneHancer (GH) Regulatory Elements for C2orf69 Gene

Promoters and enhancers for C2orf69 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
GH02J199910 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 741 3.6 ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 ZFX ZIC2 ENSG00000232732 C2orf69 LOC101927687 CLK1 FTCDNL1 MAIP1
GH02J200372 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.9 +467.3 467274 11.9 ZSCAN5C POLR2G USF1 ZNF639 ZNF10 TCF7 RFX1 CTBP1 POLR2A NFYB SPATS2L CFLAR C2orf69 ENSG00000232732 RNY4P34 NONHSAG030212.2 RF00017-3397
GH02J200360 Enhancer 1.3 Ensembl ENCODE dbSUPER 5 +453.2 453245 10.6 EP300 FOXK2 POLR2G NCOR1 KDM6A TCF7 CUX1 ZNF740 ZBTB7A SMARCC2 SPATS2L ENSG00000232732 C2orf69 RNY4P34 RF00017-3396 NONHSAG030212.2
GH02J200351 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +443.0 443031 9 TEAD4 TEAD1 CTBP1 POLR2A CEBPG RBM22 ZFHX2 DPF2 BCL6 PRDM6 SPATS2L AOX1 C2orf69 RF00017-3396 RNY4P34 NONHSAG030212.2
GH02J200662 Enhancer 0.8 Ensembl ENCODE 4.5 +751.6 751575 2.1 ZNF217 FOS RFX1 EP300 CTBP1 FOSL2 CEBPB RCOR1 NR3C1 JUND C2orf69 AOX3P AOX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2orf69 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C2orf69

Top Transcription factor binding sites by QIAGEN in the C2orf69 gene promoter:
  • AML1a
  • Bach2
  • Elk-1
  • ITF-2
  • POU6F1 (c2)
  • RP58
  • S8
  • Sox9
  • Tal-1beta
  • YY1

Genomic Locations for C2orf69 Gene

Genomic Locations for C2orf69 Gene
chr2:199,911,256-199,955,935
(GRCh38/hg38)
Size:
44,680 bases
Orientation:
Plus strand
chr2:200,775,979-200,820,658
(GRCh37/hg19)
Size:
44,680 bases
Orientation:
Plus strand

Genomic View for C2orf69 Gene

Genes around C2orf69 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf69 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf69 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf69 Gene

Proteins for C2orf69 Gene

  • Protein details for C2orf69 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8R5-CB069_HUMAN
    Recommended name:
    UPF0565 protein C2orf69
    Protein Accession:
    Q8N8R5
    Secondary Accessions:
    • Q8NE30

    Protein attributes for C2orf69 Gene

    Size:
    385 amino acids
    Molecular mass:
    43448 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAW70190.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for C2orf69 Gene

Post-translational modifications for C2orf69 Gene

  • Glycosylation at Asn128 and Asn196
  • Modification sites at PhosphoSitePlus

Other Protein References for C2orf69 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2orf69 Gene

Domains & Families for C2orf69 Gene

Gene Families for C2orf69 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C2orf69 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2orf69 Gene

GenScript: Design optimal peptide antigens:
  • UPF0565 protein C2orf69 (CB069_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N8R5

UniProtKB/Swiss-Prot:

CB069_HUMAN :
  • Belongs to the UPF0565 family.
Family:
  • Belongs to the UPF0565 family.
genes like me logo Genes that share domains with C2orf69: view

Function for C2orf69 Gene

Phenotypes From GWAS Catalog for C2orf69 Gene

genes like me logo Genes that share phenotypes with C2orf69: view

Animal Model Products

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 C2orf69 Gene

Localization for C2orf69 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2orf69 Gene

Secreted.

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 C2orf69 gene
Compartment Confidence
extracellular 3
mitochondrion 2
peroxisome 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for C2orf69 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C2orf69: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C2orf69 Gene

Pathways & Interactions for C2orf69 Gene

PathCards logo

SuperPathways for C2orf69 Gene

No Data Available

Interacting Proteins for C2orf69 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000312770 Q8N8R5-CB069_HUMAN for C2orf69 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for C2orf69 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf69 Gene

Drugs & Compounds for C2orf69 Gene

No Compound Related Data Available

Transcripts for C2orf69 Gene

mRNA/cDNA for C2orf69 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf69 Gene

No ASD Table

Relevant External Links for C2orf69 Gene

GeneLoc Exon Structure for
C2orf69

Expression for C2orf69 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C2orf69 Gene

Protein differential expression in normal tissues from HIPED for C2orf69 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.9), Frontal cortex (10.8), and Testis (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2orf69 Gene



Protein tissue co-expression partners for C2orf69 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C2orf69

SOURCE GeneReport for Unigene cluster for C2orf69 Gene:

Hs.471040

Evidence on tissue expression from TISSUES for C2orf69 Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with C2orf69: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf69 Gene

Orthologs for C2orf69 Gene

This gene was present in the common ancestor of animals.

Orthologs for C2orf69 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2orf69 31
  • 100 (a)
OneToOne
C2BH2orf69 30
  • 100 (n)
cow
(Bos Taurus)
Mammalia C2H2orf69 30
  • 91.95 (n)
C2orf69 31
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C37H2orf69 30
  • 90.45 (n)
C2orf69 31
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306941 30
  • 84.6 (n)
mouse
(Mus musculus)
Mammalia 1700066M21Rik 17 31 30
  • 84.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf69 31
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2orf69 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7H2ORF69 31 30
  • 73.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf69 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf69 30
  • 66.04 (n)
Str.9332 30
zebrafish
(Danio rerio)
Actinopterygii zgc:153521 30
  • 54.48 (n)
C9H2orf69 31
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31122 31 30
  • 50.42 (n)
OneToOne
Species where no ortholog for C2orf69 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)
  • 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 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 C2orf69 Gene

ENSEMBL:
Gene Tree for C2orf69 (if available)
TreeFam:
Gene Tree for C2orf69 (if available)

Paralogs for C2orf69 Gene

genes like me logo Genes that share paralogs with C2orf69: view

No data available for Paralogs for C2orf69 Gene

Variants for C2orf69 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C2orf69 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
809136 Uncertain Significance: not provided 199,911,739(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for C2orf69 Gene

Structural Variations from Database of Genomic Variants (DGV) for C2orf69 Gene

Variant ID Type Subtype PubMed ID
nsv834510 CNV loss 17160897

Variation tolerance for C2orf69 Gene

Residual Variation Intolerance Score: 69.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.50; 71.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf69 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf69

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf69 Gene

Disorders for C2orf69 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C2orf69 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hereditary breast ovarian cancer syndrome
  • brca1- and brca2-associated hereditary breast and ovarian cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C2orf69

genes like me logo Genes that share disorders with C2orf69: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C2orf69 Gene

Publications for C2orf69 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  2. 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 54
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54
  4. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S … Sullivan PF (Nature genetics 2013) 3 54
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 54

Products for C2orf69 Gene

Sources for C2orf69 Gene