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

C12orf68 Gene

protein-coding   GIFtS: 40
GCID: GC12P048577

Chromosome 12 Open Reading Frame 68

  Search for C12orf68
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 12 Open Reading Frame 681 2
Uncharacterized Protein C12orf682

External Ids:    HGNC: 337491   Entrez Gene: 3878562   Ensembl: ENSG000001778757   UniProtKB: Q52MB23   

Export aliases for C12orf68 gene to outside databases

Previous GC identifers: GC12P046866 GC12P045608


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

GeneCards Summary for C12orf68 Gene: 
C12orf68 (chromosome 12 open reading frame 68) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf68 gene promoter:
         MyoD   CUTL1   Arnt   CREB   PPAR-gamma1   HOXA5   deltaCREB   ARP-1   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C12orf68

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf68


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

Entrez Gene cytogenetic band: 12q13.11   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

C12orf68 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf68 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048577:  view genomic region     (about GC identifiers)

Start:
48,577,366 bp from pter      End:
48,579,709 bp from pter
Size:
2,344 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: CL068_HUMAN, Q52MB2 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf68  
Size: 194 amino acids; 20484 Da
Secondary accessions: Q96MK5 Q96N39

Explore the universe of human proteins at neXtProt for C12orf68: NX_Q52MB2

Explore proteomics data for C12orf68 at MOPED 

C12orf68 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C12orf68 Protein Expression

REFSEQ proteins: NP_001013657.3  
ENSEMBL proteins: 
 ENSP00000320849  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA--

C12orf68 for ontologies           About GeneDecksing



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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: Q52MB2


(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 C12orf68:
 Decreased POU5F1-GFP protein e 

Animal Models:
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(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 C12orf68

(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 C12orf68 (CL068)

Search CenterWatch for drugs/clinical trials and news about C12orf68 / CL068

(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 C12orf68 gene: 
NM_001013635.3  

Unigene Cluster for C12orf68:

Chromosome 12 open reading frame 68
Hs.251699  [show with all ESTs]
Unigene Representative Sequence: NM_001013635
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000316554(uc001rrj.2)
miRNA
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hsa-miR-21* hsa-miR-4291 hsa-miR-146b-3p hsa-miR-181c hsa-miR-342-3p hsa-miR-4267 hsa-miR-3167 hsa-miR-4273
SwitchGear 3'UTR luciferase reporter plasmidC12orf68 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: 

AK056003.1 AK056783.1 BC036801.1 BC049387.1 

2 DOTS entries:

DT.113250  DT.95158846 

24/51 AceView cDNA sequences (see all 51):

AK056003 AA573400 CB105430 D59644 D59638 D80193 BM704151 AL567286 
BX410350 BI601259 D80263 BC036801 F10759 BQ068340 BM709739 D80258 
D80142 AL541193 BQ897758 BQ067176 AK056783 AL566978 AL537760 BM805192 

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™, 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

C12orf68 expression in normal human tissues (normalized intensities)      C12orf68 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGGCTGTCCT
C12orf68 Expression
About this image


C12orf68 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/6 selected tissues (see all 6) fully expand
 
 Brain (Nervous System)    fully expand to see all 18 entries
         Adult Endothelial Cells Blood Brain Barrier
         Thalamus
         Septum   
 
 Spinal Cord (Nervous System)    fully expand to see all 3 entries
         Dorsal Horn   
 
 Blood Brain Barrier (Nervous System)
         Adult Endothelial Cells Blood Brain Barrier
 
 Nose (Sensory Organs)
         sensory organ/nose/nasal cavity   
 
 Endothelium (Cardiovascular System)
         Adult Endothelial Cells Blood Brain Barrier

See C12orf68 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C12orf68

SOURCE GeneReport for Unigene cluster: Hs.251699
    SABiosciences Custom PCR Arrays for C12orf68
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf68

(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 human and mouse.

Orthologs for C12orf68 gene from 1/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia AI8360031 , 5 expressed sequence AI8360031, 5 89.88(n)1
91.62(a)1
  15 (54.17 cM)5
2396501  NM_177716.31  NP_808384.21 
 981678065 


ENSEMBL Gene Tree for C12orf68 (if available)
TreeFam Gene Tree for C12orf68 (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

10/107 SNPs in C12orf68 are shown (see all 107)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1388515491,2
--48575417(+) AACATA/GCTTGC 1 -- us2k10--------
rs1115815891,2
C,F--48575418(+) ACATGC/ATTGCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
rs733049081,2
C,F--48575489(+) TTTCTA/GGTTTT 1 -- us2k12Minor allele frequency- G:0.04WA 120
rs1132014231,2
F--48575646(+) AGAGGT/CAGGAG 1 -- us2k12Minor allele frequency- C:0.03CSA WA 120
rs1121233401,2
C,F--48575724(+) GAATCG/ATTAGT 1 -- us2k12Minor allele frequency- A:0.50NA CSA 4
rs740891631,2
C,F--48575794(+) AATTTT/CTAATG 1 -- us2k16Minor allele frequency- C:0.15WA NA CSA 245
rs1834817191,2
--48575876(+) ATAGTC/TCCCAC 1 -- us2k10--------
rs771092311,2
C,F--48576032(+) GCCAGT/CCTACA 1 -- us2k11Minor allele frequency- C:0.14NA 120
rs111684411,2
C,F,A,H--48576054(+) TTTACA/C/GTAGTT 1 -- us2k111EA NS NA WA CSA 542
rs1883740031,2
--48576174(+) TTAATC/TATTGT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C12orf68 (48577366 - 48579709 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for C12orf68:    About this table     
Variant IDTypeSubtypePubMed ID
esv33956CNV Loss17666407
esv34439CNV Gain17911159
nsv8971CNV Gain+Loss18304495
dgv509e1CNV Complex17122850
dgv510e1CNV Complex17122850

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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

C12orf68 for disorders           About MalaCards

C12orf68 for disorders           About GeneDecksing

Genetic Association Database (GAD): C12orf68
Human Genome Epidemiology (HuGE) Navigator: C12orf68 (1 document)

Export disorders for C12orf68 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 C12orf68 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C12orf68)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  3. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
  4. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
  5. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
  6. 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)
  7. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (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. (2002)
  9. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1 Simpson J.C.... Wiemann S. (2000)
  10. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)

(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: 387856 HGNC: 33749 AceView: LOC387856 Ensembl:ENSG00000177875 euGenes: HUgn387856
ECgene: C12orf68 H-InvDB: C12orf68

(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 C12orf68 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 C12orf68 gene:
Search GeneIP for patents involving C12orf68

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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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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