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C2orf69 Gene(Protein Coding)

Chromosome 2 Open Reading Frame 69

GCID:
GC02P199911
GIFtS:
45
Genes Participants
UDN Logo

Aliases for C2orf69 Gene

Aliases for C2orf69 Gene

  • Chromosome 2 Open Reading Frame 69 2 3 5
  • 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.

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 C2orf69 Gene

Genomics for C2orf69 Gene

Products:

  1. Regulatory Element

Regulatory Elements for C2orf69 Gene

Enhancers for C2orf69 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
GH02G200372 1.5 Ensembl ENCODE dbSUPER 4.9 +467.3 467331 12.0 PKNOX1 ZFP64 FEZF1 YBX1 ELK1 GATA2 ZNF143 FOS KLF13 JUNB SPATS2L CFLAR C2orf69 LOC101927687 RNY4P34 LOC101927741
GH02G200351 1.4 Ensembl ENCODE dbSUPER 4.7 +444.0 444009 7.0 ATF1 PKNOX1 FEZF1 TCF12 GATA2 FOS NCOA1 SMARCA4 NBN KDM1A SPATS2L AOX1 C2orf69 GC02P200374
GH02G200367 1.3 Ensembl ENCODE 5 +456.4 456382 1.1 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SPATS2L C2orf69 GC02P200374
GH02G200363 0.7 dbSUPER 5 +453.7 453728 2.7 BCOR CTCF FOXA2 PKNOX1 ZNF511 NRF1 ZMYM3 TEAD3 FOSL1 ZNF664 SPATS2L C2orf69 GC02P200374
GH02G200662 0.7 ENCODE 4.5 +751.7 751702 1.8 PKNOX1 RFX1 MAX CEBPB NR3C1 PPARG EP300 RARA TEAD3 CTBP1 C2orf69 AOX3P GC02M200587
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C2orf69 on UCSC Golden Path with GeneCards custom track

Promoters for C2orf69 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000128603 444 1801 HDGF HNRNPUL1 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Transcription factor binding sites by QIAGEN in the C2orf69 gene promoter:

Genomic Location for C2orf69 Gene

Chromosome:
2
Start:
199,911,256 bp from pter
End:
199,955,935 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for C2orf69 Gene

Proteins for C2orf69 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for C2orf69 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for C2orf69 Gene

  • Glycosylation at posLast=128128 and posLast=196196
  • 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

Protein Domains for C2orf69 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2orf69 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for C2orf69 Gene

Function for C2orf69 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry
genes like me logo Genes that share phenotypes with C2orf69: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 4
mitochondrion 2
peroxisome 1
cytosol 1
golgi apparatus 1

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

Pathways & Interactions for C2orf69 Gene

SuperPathways for C2orf69 Gene

PathCards logo More details on SuperPathways for C2orf69
No Data Available

Interacting Proteins for C2orf69 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312770%0d%0a9606.ENSP00000375810%0d%0a9606.ENSP00000263559%0d%0a9606.ENSP00000264183%0d%0a
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for C2orf69 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for C2orf69 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(90) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2orf69 Gene

Chromosome 2 open reading frame 69:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
C2orf69

Expression for C2orf69 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for C2orf69 Gene
mRNA expression by BioGPS for C2orf69 GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for C2orf69 Gene



Protein tissue co-expression partners for C2orf69 Gene

NURSA nuclear receptor signaling pathways regulating expression of C2orf69 Gene:

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

Primer Products

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 C2BH2orf69 34
  • 100 (n)
C2orf69 35
  • 100 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia C2H2orf69 34
  • 91.95 (n)
C2orf69 35
  • 88 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia C37H2orf69 34
  • 90.45 (n)
C2orf69 35
  • 85 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia RGD1306941 34
  • 84.6 (n)
mouse
(Mus musculus)
 Mammalia 1700066M21Rik 34 16 35
  • 84.31 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia C2orf69 35
  • 69 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia C2orf69 35
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves C7H2ORF69 34 35
  • 73.43 (n)
lizard
(Anolis carolinensis)
 Reptilia C2orf69 35
  • 61 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia c2orf69 34
  • 66.04 (n)
Str.9332 34
zebrafish
(Danio rerio)
 Actinopterygii zgc:153521 34
  • 54.48 (n)
C9H2orf69 35
  • 41 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG31122 34 35
  • 50.42 (n)
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

Pseudogenes.org Pseudogenes 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 from dbSNP and Humsavar for C2orf69 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000199366 -- 199,910,523(+) TGTTG(-/CC)CAGGC intron-variant, upstream-variant-2KB
rs1000543718 -- 199,927,914(+) AAAAA(C/T)CTAGG utr-variant-3-prime
rs1001063519 -- 199,917,392(+) AAATG(G/T)GTTTT intron-variant
rs1001121677 -- 199,924,628(+) AAGAG(A/G)GAGGG intron-variant
rs1001186372 -- 199,920,320(+) AGTAA(A/T)GATTC intron-variant

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)

Relevant External Links 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

Relevant External Links for C2orf69

Genetic Association Database (GAD)
C2orf69
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf69

No disorders were found for C2orf69 Gene.

No data available for MalaCards , 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. (Nat. Genet. 2004) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  4. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S. … Sullivan P.F. (Nat. Genet. 2013) 3 64
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64

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Sources for C2orf69 Gene

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