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C22orf23 Gene

protein-coding   GIFtS: 40
GCID: GC22M038339

Chromosome 22 Open Reading Frame 23

  Search for C22orf23
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 22 Open Reading Frame 231 2
EVG12
dJ1039K5.62
UPF0193 Protein EVG12

External Ids:    HGNC: 185891   Entrez Gene: 846452   Ensembl: ENSG000001283467   UniProtKB: Q9BZE73   

Export aliases for C22orf23 gene to outside databases

Previous GC identifers: GC22M034954 GC22M036582 GC22M036664 GC22M021305


(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 C22orf23 Gene:
C22orf23 (chromosome 22 open reading frame 23) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C22orf23 gene promoter:
         SRF   AML1a   SRF (504 AA)   HTF   Hand1   NF-kappaB   E47   c-Ets-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C22orf23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C22orf23


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

C22orf23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C22orf23 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M038339:  view genomic region     (about GC identifiers)

Start:
38,339,057 bp from pter      End:
38,349,676 bp from pter
Size:
10,620 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EVG1_HUMAN, Q9BZE7 (See protein sequence)
Recommended Name: UPF0193 protein EVG1  
Size: 217 amino acids; 24956 Da
Secondary accessions: Q5JYU9 Q96M68

Explore the universe of human proteins at neXtProt for C22orf23: NX_Q9BZE7

Explore proteomics data for C22orf23 at MOPED


See C22orf23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001193991.1  NP_115950.3  

ENSEMBL proteins: 
 ENSP00000384667   ENSP00000249079   ENSP00000384618   ENSP00000395077   ENSP00000407707  

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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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1 InterPro protein domain:
 IPR007914 UPF0193

Graphical View of Domain Structure for InterPro Entry Q9BZE7

ProtoNet protein and cluster: Q9BZE7

1 Blocks protein domain: IPB007914 Protein of unknown function UPF0193

UniProtKB/Swiss-Prot: EVG1_HUMAN, Q9BZE7
Similarity: Belongs to the UPF0193 (EVG1) family


C22orf23 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,
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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
C22orf23 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for C22orf23:
 Increased G1 DNA content  Increased gamma-H2AX phosphory 

Animal Models:
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hsa-miR-146a* hsa-miR-642a hsa-miR-588 hsa-miR-4289 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-570
SwitchGear 3'UTR luciferase reporter plasmidC22orf23 3' UTR sequence
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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
nucleus3
cytosol2

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--

C22orf23 for ontologies           About GeneDecksing


(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 C22orf23
Interactions:

    Search GeneGlobe Interaction Network for C22orf23

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

C22orf23 for ontologies           About GeneDecksing



(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
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  Browse compounds at ApexBio 

Browse Tocris compounds for C22orf23 (EVG1)



(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,
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 C22orf23 gene (2 alternative transcripts): 
NM_001207062.1  NM_032561.4  

Unigene Cluster for C22orf23:

Chromosome 22 open reading frame 23
Hs.517612  [show with all ESTs]
Unigene Representative Sequence: NM_032561
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000403305(uc003auj.2 uc021wpl.1) ENST00000249079 ENST00000403026
ENST00000418863 ENST00000422191
miRNA
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hsa-miR-146a* hsa-miR-642a hsa-miR-588 hsa-miR-4289 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-570
SwitchGear 3'UTR luciferase reporter plasmidC22orf23 3' UTR sequence
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Additional mRNA sequence: 

AF324466.1 AK097339.1 BC031998.1 CR456440.1 

6 DOTS entries:

DT.95275035  DT.95275040  DT.95255604  DT.97819165  DT.91987893  DT.95275042 

Selected AceView cDNA sequences (see all 47):

AI016233 BC031998 BP368834 AA781685 AW665305 CR456440 BX115695 BP368870 
BI767835 NM_032561 AK057349 BI825809 AA860425 BI753238 BI827500 AI765407 
BI463610 BG675443 AI991437 BG721011 BI827388 BI830789 BM563210 AF324466 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for C22orf23 (see all 7)    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b
SP1:                    -     -                                   -                 -                     
SP2:        -     -     -     -           -                       -                 -                     
SP3:              -     -     -                                   -                                       
SP4:                    -     -           -                       -                 -                     
SP5:                          -                                                                           


ECgene alternative splicing isoforms for C22orf23

(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 Genevestigator, and/or 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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

C22orf23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C22orf23 Protein Expression

Genevestigator expression for C22orf23

SOURCE GeneReport for Unigene cluster: Hs.517612
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In Situ
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(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 animals.

Orthologs for C22orf23 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1700088E04Rik1 , 5 RIKEN cDNA 1700088E04 gene1, 5 81.17(n)1
81.02(a)1
  15 (37.70 cM)5
276601  NM_138581.21  NP_613047.11 
 791346555 
chicken
(Gallus gallus)
Aves C1H22ORF231 chromosome 1 open reading frame, human C22orf23 62.37(n)
55.91(a)
  418031  XM_416268.4  XP_416268.2 
lizard
(Anolis carolinensis)
Reptilia C22orf236
chromosome 22 open reading frame 23
55(a)
1 ↔ 1
GL343460.1(100045-106666)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004850661 chromosome unknown open reading frame, human C22orf23 56.76(n)
52.36(a)
  100485066  XM_002934212.2  XP_002934258.1 
zebrafish
(Danio rerio)
Actinopterygii si:dkey-43k4.31 si:dkey-43k4.3 53.93(n)
43.82(a)
  795882  XM_001333259.4  XP_001333295.3 
fruit fly
(Drosophila melanogaster)
Insecta CG52806
--
21(a)
1 ↔ 1
3L(8982169-8983328)


ENSEMBL Gene Tree for C22orf23 (if available)
TreeFam Gene Tree for C22orf23 (if available)

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

(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 C22orf23 (see all 195)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1436417091,2
C--38339068(+) CAAACC/TGAAAC 2 -- ut310--------
rs1903836901,2
--38339257(+) CAAGGG/TGTCAG 2 -- ut310--------
rs412745441,2
C,F--38339298(+) GCACAA/GGCACG 2 -- ut311Minor allele frequency- G:0.03NA 120
rs1467736091,2
--38339302(+) AAGCAC/TGGAGC 2 -- ut310--------
rs1808628521,2
--38339336(+) TCACGC/TGGCAC 2 -- ut310--------
rs1407205861,2
--38339744(+) CCCACA/GTTAAA 2 -- ut310--------
rs1176184451,2
C,F--38339764(+) TTGGCC/TAGTTA 2 -- ut311Minor allele frequency- T:0.02EA 120
rs734139991,2
C--38339798(+) TAAGGC/TGGTAA 2 -- ut312Minor allele frequency- T:0.04WA 120
rs30266351,2
C,F,H--38339881(+) AACAGG/CCCACA 2 -- ut31 ese317Minor allele frequency- C:0.09NS EA NA WA CSA 1631
rs10537191,2
C--38339892(-) CACTTC/TTGACC 2 -- ut31 ese32Minor allele frequency- T:0.00MN NA 186

HapMap Linkage Disequilibrium report for C22orf23 (38339057 - 38349676 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for C22orf23:    About this table    
Variant IDTypeSubtypePubMed ID
dgv830e199CNV Deletion23128226
nsv915053CNV Loss21882294
nsv915035CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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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.)
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(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 C22orf23 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C22orf23)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Experimental annotation of the human genome using microarray technology. (PubMed id 11237012)1, 2, 3 Shoemaker D.D.... Boguski M.S. (Nature 2001)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
  5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  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. (Genome Res. 2006)
  7. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
  8. 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)
  9. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)

(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: 84645 HGNC: 18589 AceView: C22orf23 Ensembl:ENSG00000128346 euGenes: HUgn84645
ECgene: C22orf23 H-InvDB: C22orf23

(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 C22orf23 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 C22orf23 gene:
Search GeneIP for patents involving C22orf23

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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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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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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