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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C2orf69 Gene

protein-coding   GIFtS: 41
GCID: GC02P200775

Chromosome 2 Open Reading Frame 69

  Search for C2orf69
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 2 Open Reading Frame 691 2
Hypothetical Protein FLJ389731
UPF0565 Protein C2orf692

External Ids:    HGNC: 267991   Entrez Gene: 2053272   Ensembl: ENSG000001780747   UniProtKB: Q8N8R53   

Export aliases for C2orf69 gene to outside databases

Previous GC identifers: GC02P200485 GC02P192628


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C2orf69 Gene: 
C2orf69 (chromosome 2 open reading frame 69) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf69 gene promoter:
         Elk-1   RP58   AML1a   Bach2   POU6F1 (c2)   Tal-1beta   YY1   S8   Sox9   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf69

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf69


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

C2orf69 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf69 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P200775:  view genomic region     (about GC identifiers)

Start:
200,775,979 bp from pter      End:
200,820,658 bp from pter
Size:
44,680 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CB069_HUMAN, Q8N8R5 (See protein sequence)
Recommended Name: UPF0565 protein C2orf69 precursor  
Size: 385 amino acids; 43448 Da
Subcellular location: Secreted (Potential)
Sequence caution: Sequence=EAW70190.1; Type=Erroneous gene model prediction;
Secondary accessions: Q8NE30

Explore the universe of human proteins at neXtProt for C2orf69: NX_Q8N8R5

Explore proteomics data for C2orf69 at MOPED 

C2orf69 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C2orf69 Protein Expression

REFSEQ proteins: NP_710156.3  
ENSEMBL proteins: 
 ENSP00000312770  

Human Recombinant Protein Products for C2orf69: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

C2orf69 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for C2orf69


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR018881 UPF0565

Graphical View of Domain Structure for InterPro Entry Q8N8R5

ProtoNet protein and cluster: Q8N8R5

UniProtKB/Swiss-Prot: CB069_HUMAN, Q8N8R5
Similarity: Belongs to the UPF0565 family


C2orf69 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Phenotypes:
     3 GenomeRNAi human phenotypes for C2orf69:
 Decreased POU5F1-GFP protein e  Increased G1 DNA content  Increased gamma-H2AX phosphory 

Animal Models:
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SwitchGear 3'UTR luciferase reporter plasmidC2orf69 3' UTR sequence
Inhib. RNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf69

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

4 Interacting proteins for C2orf69 (Q8N8R53 ENSP000003127704) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
DYNLT1P631723I2D: score=5 
PCNAP120043I2D: score=5 
ZNF330Q9Y3S23I2D: score=5 
CBX1ENSP000002256034STRING: ENSP00000225603
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C2orf69 (CB069)

Search CenterWatch for drugs/clinical trials and news about C2orf69 / CB069

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C2orf69 gene: 
NM_153689.5  

Unigene Cluster for C2orf69:

Chromosome 2 open reading frame 69
Hs.471040  [show with all ESTs]
Unigene Representative Sequence: NM_153689
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000319974(uc010zhb.2) ENST00000491721
miRNA
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hsa-miR-579 hsa-miR-607 hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-371-5p hsa-miR-298 hsa-miR-4274
SwitchGear 3'UTR luciferase reporter plasmidC2orf69 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for C2orf69
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C2orf69
Clone
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OriGene ORF clones in mouse, rat for C2orf69
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GenScript: all cDNA clones in your preferred vector: C2orf69 (NM_153689)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for C2orf69
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf69
Sirion Biotech Customized lentivirus for stable overexpression of C2orf69 
                     Customized lentivirus expression plasmids for stable overexpression of C2orf69 
Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf69

Additional mRNA sequence: 

AK096292.1 BC036456.1 

4 DOTS entries:

DT.312247  DT.451928  DT.121026018  DT.95155462 

24/90 AceView cDNA sequences (see all 90):

AA291133 AA845433 CK818874 AA946724 AI276538 BU076261 H85463 AA814824 
CK818875 AK096292 BP375015 AI335602 AI080344 AI342816 AA883996 BU679909 
BM126285 AA815049 AA417956 CD238278 AI810100 AI472937 CB130830 N47077 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C2orf69 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AATGTATAAT
C2orf69 Expression
About this image


See C2orf69 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2orf69

SOURCE GeneReport for Unigene cluster: Hs.471040
    SABiosciences Custom PCR Arrays for C2orf69
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf69
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf69

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for C2orf69 gene from 6/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1700066M21Rik1 , 5 RIKEN cDNA 1700066M21 gene1, 5 83.56(n)1
81.27(a)1
  1 (28.78 cM)5
734671  NM_028546.11  NP_082822.11 
 573776205 
chicken
(Gallus gallus)
Aves C7H2orf691 chromosome 7 open reading frame, human C2orf69 73.43(n)
74.53(a)
  424064  NM_001039306.1  NP_001034395.1 
lizard
(Anolis carolinensis)
Reptilia C2ORF696
Uncharacterized protein
61(a)
1 ↔ 1
GL343343.1(416863-431396)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.93322 Transcribed sequences 74.63(n)    137709328 
zebrafish
(Danio rerio)
Actinopterygii zgc:1535211 zgc:153521 54.83(n)
49.66(a)
  777620  NM_001077728.1  NP_001071196.1 
fruit fly
(Drosophila melanogaster)
Insecta CG311226
--
17(a)
1 ↔ 1
3R(14231786-14238596)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for C2orf69 gene

C2orf69 for paralogs           About GeneDecksing


5 Pseudogenes.org Pseudogenes for C2orf69
PGOHUM00000249104 PGOHUM00000249106 PGOHUM00000249108 PGOHUM00000249110 PGOHUM00000249112


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/320 SNPs in C2orf69 are shown (see all 320)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1417731391,2
--200774005(+) CAACTA/TTGTGG 1 -- us2k10--------
rs777428651,2
C,F--200774064(+) CTTCAA/GTAAGA 1 -- us2k11Minor allele frequency- G:0.04WA 118
rs1843949081,2
--200774182(+) TCAACA/GTGGAG 1 -- us2k10--------
rs1903749141,2
--200774223(+) ATTAGC/TCGGGC 1 -- us2k10--------
rs1460401181,2
--200774316(+) TGAGCC/TGAGAT 1 -- us2k10--------
rs1399058201,2
--200774416(+) CAAGCC/TAAAAA 1 -- us2k10--------
rs1928611441,2
--200774450(+) ATTTGC/TAATTC 1 -- us2k10--------
rs1850440131,2
--200774529(+) TGCAAC/TTGGCA 1 -- us2k10--------
rs126193591,2
H--200774609(+) TTTTAA/CCCAGT 1 -- us2k10--------
rs1153042331,2
F--200774979(+) CTTTGT/ACTCAC 1 -- us2k11Minor allele frequency- A:0.01NA 120

HapMap Linkage Disequilibrium report for C2orf69 (200775979 - 200820658 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for C2orf69:    About this table     
Variant IDTypeSubtypePubMed ID
nsv834510CNV Loss17160897
nsv875704CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

C2orf69 for disorders           About MalaCards

C2orf69 for disorders           About GeneDecksing

Genetic Association Database (GAD): C2orf69

Export disorders for C2orf69 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for C2orf69 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C2orf69)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
  6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
  8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 205327 HGNC: 26799 AceView: FLJ38973 Ensembl:ENSG00000178074 euGenes: HUgn205327
ECgene: C2orf69 H-InvDB: C2orf69

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for C2orf69 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C2orf69 gene:
Search GeneIP for patents involving C2orf69

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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