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C2orf80 Gene

protein-coding   GIFtS: 39
GCID: GC02M209030

Chromosome 2 Open Reading Frame 80

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 2 Open Reading Frame 801 2
Gonad Development Associated 11 2
GONDA12 5
Uncharacterized Protein C2orf802

External Ids:    HGNC: 343521   Entrez Gene: 3890732   Ensembl: ENSG000001886747   OMIM: 6155365   UniProtKB: Q0P6413   

Export aliases for C2orf80 gene to outside databases

Previous GC identifers: GC02M208739 GC02M200878


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C2orf80 Gene:
C2orf80 (chromosome 2 open reading frame 80) is a protein-coding gene. Diseases associated with C2orf80 include prostate cancer, and prostatitis.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf80 gene promoter:
         HOXA9B   Tal-1   HTF   POU6F1 (c2)   Tal-1beta   E47   C/EBPalpha   FOXO4   ITF-2   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C2orf80

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf80


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

Entrez Gene cytogenetic band: 2q34   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q33.3

C2orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf80 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M209030:  view genomic region     (about GC identifiers)

Start:
209,030,067 bp from pter      End:
209,054,797 bp from pter
Size:
24,731 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CB080_HUMAN, Q0P641 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf80  
Size: 193 amino acids; 22038 Da
Secondary accessions: A6NKZ3

Explore the universe of human proteins at neXtProt for C2orf80: NX_Q0P641

Explore proteomics data for C2orf80 at MOPED


See C2orf80 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001092804.1  
ENSEMBL proteins: 
 ENSP00000389385   ENSP00000343171   ENSP00000405393   ENSP00000408378   ENSP00000397144  
 ENSP00000413016   ENSP00000397281  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q0P641


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion2
nucleus2
cytosol1
golgi apparatus1

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C2orf80
Interactions:

    Search GeneGlobe Interaction Network for C2orf80

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C2orf80 (CB080)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C2orf80 gene: 
NM_001099334.2  

Unigene Cluster for C2orf80:

Chromosome 2 open reading frame 80
Hs.198416  [show with all ESTs]
Unigene Representative Sequence: BC035737
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000451342 ENST00000341287(uc002vcr.3) ENST00000451346 ENST00000428015
ENST00000453017 ENST00000423952 ENST00000449053
miRNA
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hsa-miR-203 hsa-miR-155
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Inhib. RNA
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Additional mRNA sequence: BC035737.1 

4 DOTS entries:

DT.440055  DT.70104081  DT.97774647  DT.100743513 

16 AceView cDNA sequences:

AW138581 AL535414 AA211233 AW136505 BC035737 BM805695 BI756746 BI822703 
N55138 BG192322 BI554282 AA120960 AI655684 BM806058 R22701 BG211448 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf80    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:                                                                  
SP2:                                            -     -               


ECgene alternative splicing isoforms for C2orf80

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C2orf80 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCTACATTTT
C2orf80 Expression
About this image


C2orf80 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Ovary (Reproductive System)
         Granulosa Cells Primary Follicle
C2orf80 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C2orf80 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.198416
    Custom PCR Arrays for C2orf80
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf80

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for C2orf80 gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia D630023F18Rik1 , 5 RIKEN cDNA D630023F18 gene1, 5 80.08(n)1
72.99(a)1
  1 (32.84 cM)5
983031  NM_175293.41  NP_780502.11 
 651006195 
lizard
(Anolis carolinensis)
Reptilia C2orf806
chromosome 2 open reading frame 80
58(a)
1 ↔ 1
4(90538698-90553683)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004890571 chromosome unknown open reading frame, human C2orf8 more 63.37(n)
56.17(a)
  100489057  XM_002937119.2  XP_002937165.2 
zebrafish
(Danio rerio)
Actinopterygii LOC1005362921 uncharacterized LOC100536292 52.72(n)
46.81(a)
  100536292  XM_003199196.2  XP_003199244.2 


ENSEMBL Gene Tree for C2orf80 (if available)
TreeFam Gene Tree for C2orf80 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C2orf80 gene

C2orf80 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for C2orf80
PGOHUM00000240508


(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C2orf80 (see all 733)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs341114821,2
C--209030330(+) TTTTTT/-AAGAA 1 -- ut311Minor allele frequency- -:0.00NA 2
rs2007904951,2
C--209030344(-) ATTTTC/TTTAAA 1 -- ut310--------
rs739865281,2
C,F--209030400(+) AATAAC/TACTTC 1 -- ut314Minor allele frequency- T:0.09WA CSA NA 242
rs759165831,2
C--209030520(+) GTACAA/GTTCCA 1 -- ut312Minor allele frequency- G:0.01WA EU 1439
rs617376391,2
F--209030540(+) GTGACC/TTGCAG 1 -- spa11Minor allele frequency- T:0.18NS 76
rs1819041271,2
C--209030558(+) GATGAC/TTTTGG 1 -- int10--------
rs67210251,2
C,F,A,H--209030572(+) CAAGCG/ACATCA 1 -- int110Minor allele frequency- A:0.37NA WA CSA EA EU 1683
rs7962811,2
C,F,O,A,H--209030578(+) CATCAA/GTTTAA 1 -- int111Minor allele frequency- G:0.23NA WA CSA EA EU 1704
rs1858821811,2
--209030597(+) CAGACA/GTTACT 1 -- int10--------
rs1400357891,2
--209030672(+) TAATGC/TAATTA 1 -- int10--------

HapMap Linkage Disequilibrium report for C2orf80 (209030067 - 209054797 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for C2orf80:    About this table    
Variant IDTypeSubtypePubMed ID
esv2721408CNV Deletion23290073
nsv508883CNV Insertion20534489
nsv524826CNV Loss19592680
dgv4418n71CNV Loss21882294
nsv834517CNV Loss17160897
nsv522180CNV Loss19592680
nsv875747CNV Loss21882294
esv274878CNV Loss21479260
nsv875748CNV Gain21882294
nsv875751CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C2orf80
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 615536    OMIM disorders: --

2 diseases for C2orf80:    
About MalaCards
prostate cancer    prostatitis


C2orf80 for disorders           About GeneDecksing

Genetic Association Database (GAD): C2orf80
Human Genome Epidemiology (HuGE) Navigator: C2orf80 (1 document)

Export disorders for C2orf80 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)
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PubMed articles for C2orf80 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C2orf80)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform. (PubMed id 24055526)1, 3 Norling A....Barbaro M. (Eur J Med Genet 2013)
  2. Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion. (PubMed id 22080834)1, 3 Hill M.J....Bray N.J. (Hum. Mol. Genet. 2012)
  3. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PubMed id 20080650)1, 4 Xu J....Isaacs W.B. (Proc. Natl. Acad. Sci. U.S.A. 2010)
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  5. 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. (Genome Res. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 389073 HGNC: 34352 AceView: LOC389073 Ensembl:ENSG00000188674 euGenes: HUgn389073
ECgene: C2orf80 H-InvDB: C2orf80

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C2orf80 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C2orf80 gene:
Search GeneIP for patents involving C2orf80

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 CLIAs for C2orf80



 Browse ESI BIO Cell Lines and PureStem Progenitors for C2orf80
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf80
 Browse SwitchGear 3'UTR luciferase reporter plasmids for C2orf80
 Browse SwitchGear Promoter luciferase reporter plasmids for C2orf80
 Search ThermoFisher Antibodies for C2orf80
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf80
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C2orf80
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C2orf80
 Search LSBio for Antibodies for C2orf80
Customized transgenic rodents for:
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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