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C5orf27 Gene

protein-coding   GIFtS: 31
GCID: GC05P095187

Chromosome 5 Open Reading Frame 27

Microbiology & Infectious Diseases Congress
  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 5 Open Reading Frame 271 2
FIS2
Protein FIS3

External Ids:    HGNC: 246871   Entrez Gene: 2022992   Ensembl: ENSG000002368827   UniProtKB: Q52M753   

Export aliases for C5orf27 gene to outside databases

Previous GC identifers: GC05P095214 GC05P090378


(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 C5orf27 Gene:
C5orf27 (chromosome 5 open reading frame 27) is a protein-coding gene. Diseases associated with C5orf27 include multiple myeloma, and crohn's disease.


(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_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the C5orf27 gene promoter:
         GR   AP-1   ATF-2   XBP-1   Egr-2   POU2F1   POU2F1a   GR-alpha   c-Jun   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C5orf27

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf27


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

Entrez Gene cytogenetic band: 5q15   Ensembl cytogenetic band:  5q15   HGNC cytogenetic band: 5q15

C5orf27 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf27 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P095187:  view genomic region     (about GC identifiers)

Start:
95,187,936 bp from pter      End:
95,195,837 bp from pter
Size:
7,902 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C5orf27

(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: CE027_HUMAN, Q52M75 (See protein sequence)
Recommended Name: Putative uncharacterized protein C5orf27  
Size: 96 amino acids; 10857 Da
Secondary accessions: B2RBN1 Q86YS4

Explore the universe of human proteins at neXtProt for C5orf27: NX_Q52M75


ENSEMBL proteins: 
 ENSP00000427188   ENSP00000423049  

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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: Q52M75


(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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Phenotypes:
     1 GenomeRNAi human phenotype for C5orf27:
 Increased gamma-H2AX phosphory 

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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(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 C5orf27
Interactions:

    Search GeneGlobe Interaction Network for C5orf27

(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 C5orf27 (CE027)



(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 C5orf27 gene: 
NM_175616.2  

Unigene Cluster for C5orf27:

Chromosome 5 open reading frame 27
Hs.8373  [show with all ESTs]
Unigene Representative Sequence: NR_026936
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000357880 ENST00000436592(uc003klq.3 uc003klp.3)
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Additional mRNA sequence: 

AK096140.1 AK314737.1 AY168789.1 BC093643.1 BC101577.1 NR_026936.1 

3 DOTS entries:

DT.408553  DT.100754877  DT.120854329 

24 AceView cDNA sequences:

T40166 CB135195 AY168789 CB162175 CD723478 NM_175616 CB135581 BX115114 
AW612431 CB137727 CB147331 AW614576 AK096140 CB144759 T67701 T58756 
AA195702 AW995393 AA195738 AW206457 CB997195 T67777 T41047 T58824 

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™, 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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C5orf27 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGAAACCTTT
C5orf27 Expression
About this image

C5orf27 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.8373
    Custom PCR Arrays for C5orf27
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In Situ
Assay Products:
 

 
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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 human and chimp.

Orthologs for C5orf27 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia C5orf276
chromosome 5 open reading frame 27
100(a)
1 ↔ 1
5(19479175-19481306)


ENSEMBL Gene Tree for C5orf27 (if available)
TreeFam Gene Tree for C5orf27 (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 C5orf27 (see all 275)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1428711271,2
--95185986(+) GGCCAC/GACTGG 1 -- us2k10--------
rs731384551,2
C--95186278(+) GCTTTG/ATTTCT 1 -- us2k12Minor allele frequency- A:0.13WA 120
rs1510747121,2
C--95186433(+) AGGCAA/GGCCAG 1 -- us2k10--------
rs680951401,2
C,F--95186490(+) TGGCTT/AGTGTT 1 -- us2k14Minor allele frequency- A:0.15WA NA 242
rs749707841,2
C--95186532(+) GTTTTG/CAGTCA 1 -- us2k14Minor allele frequency- C:0.27CSA WA NA EA 360
rs1121289511,2
C,F--95186636(+) AACTTC/TTGGAG 1 -- us2k12Minor allele frequency- T:0.03NA 122
rs1135961111,2
C,F--95186667(+) GGACTG/ACATGA 1 -- us2k14Minor allele frequency- A:0.10CSA WA NA 242
rs1155003031,2
F--95186684(+) TGATAG/ATGGTA 1 -- us2k11Minor allele frequency- A:0.03WA 118
rs100679411,2
C,F,A--95186689(+) GTGGTA/GAGAGG 1 -- us2k17Minor allele frequency- G:0.28WA NA CSA EA 366
rs1822783701,2
--95186757(+) GGGCTC/TCCACT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C5orf27 (95187936 - 95195837 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C5orf27:    About this table    
Variant IDTypeSubtypePubMed ID
nsv830409CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing C5orf27
DNA2.0 Custom Variant and Variant Library Synthesis for C5orf27

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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3 diseases for C5orf27:    
About MalaCards
multiple myeloma    crohn's disease    myeloma


C5orf27 for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for C5orf27 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
tumors 0 2 16193335 (1), 16638191 (1)


Export disorders for C5orf27 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 C5orf27 gene, integrated from 10 sources (see all 24):
(articles sorted by number of sources associating them with C5orf27)
    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. (Nat. Genet. 2004)
  2. 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)
  3. 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)
  4. (PubMed id )2 
  5. Polycomb group proteins function in the female gametophyte to determine seed development in plants. (PubMed id 17855429)9 Leroy O....KAPhler C. (Development 2007)
  6. Polycomb group genes control developmental timing of endosperm. (PubMed id 15918881)9 Ingouff M....Berger F. (Plant J. 2005)
  7. Fis binding in the dnaA operon promoter region. (PubMed id 8830699)9 Froelich J.M....Zyskind J.W. (J. Bacteriol. 1996)
  8. Role of decreased levels of Fis histone-like protein in Crohn's disease-associated adherent invasive Escherichia coli LF82 bacteria interacting with intestinal epithelial cells. (PubMed id 20118249)9 Miquel S....Darfeuille-Michaud A. (J. Bacteriol. 2010)
  9. Common and variable contributions of Fis residues to high-affinity binding at different DNA sequences. (PubMed id 16513738)9 Feldman-Cohen L.S....Osuna R. (J. Bacteriol. 2006)
  10. Fis regulates transcriptional induction of RpoS in Salmonella enterica. (PubMed id 15716427)9 Hirsch M. and Elliott T. (J. Bacteriol. 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
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: 202299 HGNC: 24687 AceView: FIS Ensembl:ENSG00000236882 euGenes: HUgn202299
ECgene: C5orf27 H-InvDB: C5orf27

(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 C5orf27 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 C5orf27 gene:
Search GeneIP for patents involving C5orf27

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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