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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.

Additional gene information for C2orf69 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

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
GH02I199910 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 335 2.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ZNF207 LOC101927687 C2orf69 TYW5 FTCDNL1 MAIP1
GH02I200372 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 4.9 +467.3 467330 12 PKNOX1 ZFP64 FEZF1 ETS1 ZNF143 ATF7 RUNX3 JUNB TSHZ1 REST SPATS2L CFLAR C2orf69 LOC101927687 RNY4P34 GC02P200374 LOC101927741
GH02I200367 Enhancer 1.2 Ensembl ENCODE 5 +456.4 456381 1.1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 SLC30A9 RXRA SP5 ZHX2 SPATS2L C2orf69 GC02P200374
GH02I200351 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.7 +444.0 444009 7 MEIS2 SOX13 PKNOX1 MZF1 CEBPG FEZF1 TEAD3 ZFHX2 CTBP1 ATF7 SPATS2L AOX1 C2orf69 GC02P200374
GH02I200662 Enhancer 0.7 ENCODE 4.5 +751.7 751702 1.8 PKNOX1 MAX RARA TEAD3 CTBP1 GATA3 RCOR1 FOSL2 FOS HOMEZ C2orf69 AOX3P GC02M200587 AOX1 GC02P200578
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2orf69 on UCSC Golden Path with GeneCards custom track

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

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)

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 posLast=128128 and Asn196

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:

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

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 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

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

Pathways & Interactions for C2orf69 Gene

SuperPathways for C2orf69 Gene

No Data Available

Interacting Proteins for C2orf69 Gene

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 :
(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:

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
ECgene alternative splicing isoforms for
C2orf69

Expression for C2orf69 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, 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

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 33
  • 100 (n)
C2orf69 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C2H2orf69 33
  • 91.95 (n)
C2orf69 34
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C37H2orf69 33
  • 90.45 (n)
C2orf69 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306941 33
  • 84.6 (n)
mouse
(Mus musculus)
Mammalia 1700066M21Rik 33 16 34
  • 84.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf69 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2orf69 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7H2ORF69 33 34
  • 73.43 (n)
lizard
(Anolis carolinensis)
Reptilia C2orf69 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf69 33
  • 66.04 (n)
Str.9332 33
zebrafish
(Danio rerio)
Actinopterygii zgc:153521 33
  • 54.48 (n)
C9H2orf69 34
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31122 33 34
  • 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

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 Variation AA Info Type
rs1000199366 -- 199,910,523(+) CCC/C upstream_transcript_variant
rs1000543718 -- 199,927,914(+) T/C 3_prime_UTR_variant
rs1001063519 -- 199,917,392(+) G/T intron_variant
rs1001121677 -- 199,924,628(+) G/A intron_variant
rs1001186372 -- 199,920,320(+) T/A 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)

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

Additional Disease Information for 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 (Nature genetics 2004) 3 4 58
  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 58
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  4. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S … Sullivan PF (Nature genetics 2013) 3 58
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58

Products for C2orf69 Gene

Sources for C2orf69 Gene

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