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

C2orf73 Gene

protein-coding   GIFtS: 37
GCID: GC02P054557

Chromosome 2 Open Reading Frame 73

  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)
About This Section

Aliases
Chromosome 2 Open Reading Frame 731 2
Uncharacterized Protein C2orf732

External Ids:    HGNC: 268611   Entrez Gene: 1298522   Ensembl: ENSG000001779947   UniProtKB: Q8N5S33   

Export aliases for C2orf73 gene to outside databases

Previous GC identifers: GC02P054411 GC02P054292


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

GeneCards Summary for C2orf73 Gene: 
C2orf73 (chromosome 2 open reading frame 73) is a protein-coding gene. Diseases associated with C2orf73 include pancreatic cancer, and pancreatitis.


(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  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf73 gene promoter:
         POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   GATA-1   Gfi-1   AREB6   POU2F1   POU2F1a   POU2F1c   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf73

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf73


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

Entrez Gene cytogenetic band: 2p16.2   Ensembl cytogenetic band:  2p16.2   HGNC cytogenetic band: 2p16.2

C2orf73 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf73 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P054557:  view genomic region     (about GC identifiers)

Start:
54,557,171 bp from pter      End:
54,610,879 bp from pter
Size:
53,709 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: CB073_HUMAN, Q8N5S3 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf73  
Size: 287 amino acids; 32142 Da
Sequence caution: Sequence=AAH31669.1; Type=Erroneous initiation;
Secondary accessions: A0AV79 A0AV81 Q8N7V4
Alternative splicing: 2 isoforms:  Q8N5S3-1   Q8N5S3-2   

Explore the universe of human proteins at neXtProt for C2orf73: NX_Q8N5S3

Explore proteomics data for C2orf73 at MOPED 

C2orf73 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C2orf73 Protein Expression

REFSEQ proteins: NP_001093866.1  
ENSEMBL proteins: 
 ENSP00000417971   ENSP00000385348   ENSP00000381631   ENSP00000325555   ENSP00000389570  
 ENSP00000403195  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q8N5S3


(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:
     1 GenomeRNAi human phenotype for C2orf73:
 Increased HPV18 LCR reporter a 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for C2orf73 
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf73


(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 C2orf73

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for C2orf73 (Q8N5S33 ENSP000003816314) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
FCHSD2O948683, ENSP000003867224I2D: score=1 STRING: ENSP00000386722
SH3BP4Q9P0V33, ENSP000003402374I2D: score=1 STRING: ENSP00000340237
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 C2orf73 (CB073)

Search CenterWatch for drugs/clinical trials and news about C2orf73 / CB073

(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 C2orf73 gene (2 alternative transcripts): 
NM_173486.1  NM_001100396.1  

Unigene Cluster for C2orf73:

Chromosome 2 open reading frame 73
Hs.732626  [show with all ESTs]
Unigene Representative Sequence: NM_001100396
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000486488 ENST00000405749 ENST00000398634(uc002rxt.1 uc010yor.1)
ENST00000317627(uc002rxs.1 uc010yos.1) ENST00000447328 ENST00000414747
ENST00000491538
miRNA
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Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
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                     Customized lentivirus expression plasmids for stable overexpression of C2orf73 
Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf73

Additional mRNA sequence: 

AK097617.1 BC031669.1 BC126244.1 BC126246.1 BC144191.1 BC144192.1 

5 DOTS entries:

DT.408208  DT.100744974  DT.100744975  DT.121021734  DT.97802057 

24/44 AceView cDNA sequences (see all 44):

BX280544 BX106408 AA904958 AI656714 AW296137 AA701000 AW197634 AA405932 
BE502290 AK097617 AW296341 AA769980 BU076308 NM_173486 AI207010 BC031669 
CA503196 AA405181 AI807451 AW182832 AW003924 AW664734 AL706411 AW002506 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf73    About this scheme

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1:                                                            
SP2:              -     -                                       
SP3:                    -                                       
SP4:                    -           -                           


ECgene alternative splicing isoforms for C2orf73

(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

C2orf73 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCCCAGCACT
C2orf73 Expression
About this image


See C2orf73 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2orf73

SOURCE GeneReport for Unigene cluster: Hs.732626
    SABiosciences Custom PCR Arrays for C2orf73
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf73
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf73

(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 chordates.

Orthologs for C2orf73 gene from 2/8 species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 4930505A04Rik1 , 5 RIKEN cDNA 4930505A04 gene1, 5 79.42(n)1
68.26(a)1
  11 (17.93 cM)5
750871  NM_001100394.11  NP_001093864.11 
 304260065 
lizard
(Anolis carolinensis)
Reptilia C2orf736
chromosome 2 open reading frame 73
33(a)
1 ↔ 1
1(263318488-263335679)


ENSEMBL Gene Tree for C2orf73 (if available)
TreeFam Gene Tree for C2orf73 (if available)

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

(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

10/614 SNPs in C2orf73 are shown (see all 614)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1409833881,2
C--54556103(+) CCTCAC/TGATCT 1 -- us2k10--------
rs1926096401,2
C--54556112(+) CTGCCC/TGCCTT 1 -- us2k10--------
rs17275311,2
C,F,A--54556141(-) CGCCTG/ATAATC 1 -- us2k18Minor allele frequency- A:0.14NA WA CSA 14
rs1855741651,2
--54556218(+) ACATAA/C/TGCAAG 1 -- us2k10--------
rs1390335231,2
--54556272(+) ATACCA/GCTCAA 1 -- us2k10--------
rs1889040571,2
--54556307(+) TGTACA/GGATGC 1 -- us2k10--------
rs1430458331,2
--54556315(+) TGCAGA/GTGAAC 1 -- us2k10--------
rs1930880601,2
--54556323(+) AACTTA/GTCAGT 1 -- us2k10--------
rs1474600381,2
--54556368(+) CTTTAA/GGCCCT 1 -- us2k10--------
rs739336241,2
C,F--54556386(+) TTCCTG/CAGGGT 1 -- us2k12Minor allele frequency- C:0.14WA 120

HapMap Linkage Disequilibrium report for C2orf73 (54557171 - 54610879 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/15 variations for C2orf73 (see all 15):    About this table     
Variant IDTypeSubtypePubMed ID
nsv821415CNV Deletion20802225
esv1008998CNV Deletion20482838
esv2720080CNV Deletion23290073
nsv436294CNV Deletion17901297
esv2720078CNV Deletion23290073
esv5301CNV Deletion18987735
esv2535207CNV Deletion19546169
esv2276399CNV Deletion18987734
esv2604967CNV Loss19546169
nsv511786CNV Loss21212237

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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
2 diseases for C2orf73:    About MalaCards
pancreatic cancer    pancreatitis


C2orf73 for disorders           About GeneDecksing


Export disorders for C2orf73 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 C2orf73 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C2orf73)
    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, 3 Ota T.... Sugano S. (2004)
  2. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. (PubMed id 18654987)1 Thalappilly S....Dusetti N.J. (2008)
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
  4. 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)
  5. 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. (2002)

(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: 129852 HGNC: 26861 AceView: FLJ40298 Ensembl:ENSG00000177994 euGenes: HUgn129852
ECgene: C2orf73 H-InvDB: C2orf73

(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 C2orf73 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 C2orf73 gene:
Search GeneIP for patents involving C2orf73

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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 Regulatory tfbs in C2orf73 promoter
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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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