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C12orf55 Gene

protein-coding   GIFtS: 34
GCID: GC12P096883

Chromosome 12 Open Reading Frame 55

(Previous name: chromosome 12 open reading frame 63)
(Previous symbol: C12orf63)
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(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 12 Open Reading Frame 551 2
C12orf631 2
Chromosome 12 Open Reading Frame 631
Putative Uncharacterized Protein C12orf632
Uncharacterized Protein C12orf552

External Ids:    HGNC: 264561   Entrez Gene: 1445352   Ensembl: ENSG000001885967   UniProtKB: Q96N233   

Export aliases for C12orf55 gene to outside databases

Previous GC identifers: GC12U900552 GC12P095407 GC12P093945


(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 C12orf55 Gene:
C12orf55 (chromosome 12 open reading frame 55) 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 at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf55 gene promoter:
         TBP   MEF-2   HNF-1A   MEF-2A   POU2F1   HNF-1   POU2F1a   TFIID   aMEF-2   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C12orf55

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf55


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

Entrez Gene cytogenetic band: 12q23.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.1

C12orf55 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf55 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P096883:  view genomic region     (about GC identifiers)

Start:
96,883,349 bp from pter      End:
97,269,333 bp from pter
Size:
385,985 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CL055_HUMAN, Q96N23 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf55  
Size: 812 amino acids; 92323 Da

Explore the universe of human proteins at neXtProt for C12orf55: NX_Q96N23

Explore proteomics data for C12orf55 at MOPED


See C12orf55 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000452066   ENSP00000431759   ENSP00000449035   ENSP00000298953  

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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:
 IPR027912 DUF4486

Graphical View of Domain Structure for InterPro Entry Q96N23

ProtoNet protein and cluster: Q96N23


Find genes that share domains with C12orf55           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, 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:0005515protein binding ----
     
Find genes that share ontologies with C12orf55           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C12orf55

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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
cytosol2
nucleus2

(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 C12orf55
Interactions:

    Search GeneGlobe Interaction Network for C12orf55

(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 C12orf55 (CL055)



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C12orf55 gene: 
NM_198520.2  

Unigene Cluster for C12orf55:

Chromosome 12 open reading frame 55
Hs.535389  [show with all ESTs]
Unigene Representative Sequence: BC041426
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000554621 ENST00000553778(uc009ztl.1) ENST00000524981(uc001teq.2)
ENST00000554108(uc001ter.1) ENST00000554821 ENST00000556591 ENST00000550977(uc001tes.3)
ENST00000342887(uc021rcc.1) ENST00000298953
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Additional mRNA sequence: 

AK091789.1 BC041426.1 

3 DOTS entries:

DT.100014617  DT.75165059  DT.91717954 

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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C12orf55 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATACTTGTTT
C12orf55 Expression
About this image

C12orf55 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C12orf55 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.535389
    Custom PCR Arrays for C12orf55
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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 chordates.

Orthologs for C12orf55 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 4930485B16Rik1 RIKEN cDNA 4930485B16 gene 77.32(n)
74.82(a)
  380654  XM_006514394.1  XP_006514457.1 
chicken
(Gallus gallus)
Aves LOC4179211 uncharacterized LOC417921 60.91(n)
49.25(a)
  417921  XM_004937651.1  XP_004937708.1 
lizard
(Anolis carolinensis)
Reptilia C12orf556
chromosome 12 open reading frame 55
46(a)
1 ↔ 1
5(30280024-30329822)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004901771 uncharacterized LOC100490177 55.66(n)
43.92(a)
  100490177  XM_002931626.2  XP_002931672.2 
zebrafish
(Danio rerio)
Actinopterygii LOC1005361241 uncharacterized LOC100536124 49.11(n)
39.76(a)
  100536124  XM_003198275.2  XP_003198323.2 


ENSEMBL Gene Tree for C12orf55 (if available)
TreeFam Gene Tree for C12orf55 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C12orf55 gene
1 SIMAP similar gene for C12orf55 using alignment to 4 protein entries:     CL055_HUMAN (see all proteins):
C12orf63

Find genes that share paralogs with C12orf55           About GenesLikeMe



(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 C12orf55 (see all 2847)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1418423841,2
C--93946786(+) TAAAT-/AAATA 
        
AAATA
1 -- int10--------
rs569817011,2
C--93977563(+) GTGTG-/TGT   
   GTGCG
CGTGC
1 -- int11Minor allele frequency- TGTGTGCG:0.50NA 2
rs113097121,2
C,F--93983569(+) TATTG-/TTTTTT 1 -- int13Minor allele frequency- T:0.33NA CSA 6
rs58002511,2
C--93990019(+) CCTGG-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA 4
rs341500771,2
C--93994108(+) GTTTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
rs559776271,2
C--94037651(+) ATATATA/-CATGC 1 -- int11Minor allele frequency- -:0.50NA 2
rs118343641,2
C,F,H--96721081(+) TTACAC/GCAGTT 1 -- us2k17Minor allele frequency- G:0.02NS EA NA WA 648
rs1507152401,2
--96721108(+) CAAGTC/TTGCCA 1 -- us2k10--------
rs111085391,2
C,F,A--96721139(+) GAGAAA/GAAAGA 1 -- us2k16Minor allele frequency- G:0.28WA NA EA 364
rs1391086181,2
--96721195(+) AAATGA/CCCAGT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C12orf55 (96883349 - 97133349 bp, first 250kb of C12orf55)

Structural Variations
      Database of Genomic Variants (DGV) variations for C12orf55: --
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing C12orf55
DNA2.0 Custom Variant and Variant Library Synthesis for C12orf55

(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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Find genes that share disorders with C12orf55           About GenesLikeMe

Genetic Association Database (GAD): C12orf55

Export disorders for C12orf55 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 C12orf55 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C12orf55)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (Nature 2006)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PubMed id 20966902)1 Croteau-Chonka D.C....Mohlke K.L. (Obesity (Silver Spring) 2011)
  4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  6. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  7. 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)
  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 sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

(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: 144535 HGNC: 26456 Ensembl:ENSG00000188596 euGenes: HUgn144535 ECgene: C12orf55
H-InvDB: C12orf55

(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 C12orf55 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 C12orf55 gene:
Search GeneIP for patents involving C12orf55

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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