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C8orf12 Gene

protein-coding   GIFtS: 30
GCID: GC08P011228

Chromosome 8 Open Reading Frame 12

  See C8orf12-related disease
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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 8 Open Reading Frame 121 2

External Ids:    HGNC: 155481   Entrez Gene: 836562   Ensembl: ENSG000001846087   UniProtKB: Q96KT03   
ORGUL members:         

Export aliases for C8orf12 gene to outside databases

Previous GC identifers: GC08P011354 GC08P011197 GC08P011096 GC08P011263 GC08U900757 GC08P011330 GC08P011227 GC08P010156


(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 C8orf12 Gene:
C8orf12 (chromosome 8 open reading frame 12) is a protein-coding gene. Diseases associated with C8orf12 include keratolytic winter erythema.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the C8orf12 gene promoter:
         STAT5B   GR   RP58   Pbx1a   GR-beta   YY1   GATA-1   AREB6   c-Myb   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C8orf12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C8orf12


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

C8orf12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf12 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P011228:  view genomic region     (about GC identifiers)

Start:
11,225,911 bp from pter      End:
11,296,167 bp from pter
Size:
70,257 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C8orf12

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CH012_HUMAN, Q96KT0 (See protein sequence)
Recommended Name: Uncharacterized protein C8orf12  
Size: 104 amino acids; 11632 Da

Explore the universe of human proteins at neXtProt for C8orf12: NX_Q96KT0

Explore proteomics data for C8orf12 at MOPED


See C8orf12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000431967   ENSP00000284481  

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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: Q96KT0


(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, 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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Animal Models:
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hsa-mir-335-5p (MIRT016714)

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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
nucleus2
cytosol1
extracellular1
mitochondrion1
plasma membrane1

(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 C8orf12
Interactions:

    Search GeneGlobe Interaction Network for C8orf12

(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 C8orf12 (CH012)



(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 C8orf12 gene: 
NM_054017.2  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000529305 ENST00000533578 ENST00000284481(uc003wtu.2 uc003wtv.2)

miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat C8orf12

Selected AceView cDNA sequences (see all 43):

AJ301563 NM_054017 BQ063907 BQ063270 BQ062075 NR_001578 AY101186 BQ057711 
AI474649 BQ059744 BQ056232 BQ055552 AJ301562 BQ642283 BI226083 BQ063561 
BM051842 BM909520 BI224741 BC080558 BE267834 AK057762 BQ062689 BM817654 

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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --


C8orf12 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Ovary (Reproductive System)
         Secondary Oocyte Antral Follicle
 
 Gonad
         Secondary Oocyte Antral Follicle
C8orf12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C8orf12 Protein Expression
    Custom PCR Arrays for C8orf12
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf12

(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 C8orf12 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia C8orf126
chromosome 8 open reading frame 12
98(a)
1 ↔ 1
GL390916.1(3330513-3333981)


ENSEMBL Gene Tree for C8orf12 (if available)
TreeFam Gene Tree for C8orf12 (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 C8orf12 (see all 1481)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1848293711,2
--11226501(+) ATACAA/GTCTAG 1 -- int10--------
rs1885091791,2
--11226650(+) CTATGC/TGTTAC 1 -- int10--------
rs572311861,2
C,F--11226651(+) TATGCG/ATTACA 1 -- int13Minor allele frequency- A:0.17WA 122
rs1418469691,2
C--11226751(+) ATTGCG/TGAAAC 1 -- int10--------
rs25724531,2
C,F,A,H--11226891(-) ATATGT/CGCCAA 1 -- int118Minor allele frequency- C:0.09NS EA NA WA 1992
rs786640361,2
C,F--11226893(+) GGCACA/GTATTC 1 -- int11Minor allele frequency- G:0.03WA 118
rs753646631,2
C,F--11227002(+) GCAACA/CGGATC 1 -- int12Minor allele frequency- C:0.07NA EA 240
rs1808865021,2
--11227077(+) TTAACA/GTTCTA 1 -- int10--------
rs1471256171,2
--11227093(+) AGAGCC/TGTGAG 1 -- int10--------
rs27362861,2
C,F,A,H--11227104(+) TGAATG/AAATCC 1 -- int122Minor allele frequency- A:0.46NS EA NA WA CSA 2080

HapMap Linkage Disequilibrium report for C8orf12 (11225911 - 11296167 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for C8orf12 (see all 23):    About this table    
Variant IDTypeSubtypePubMed ID
esv2645386CNV Deletion19546169
esv2383612CNV Deletion18987734
esv2659992CNV Deletion23128226
esv2736601CNV Deletion23290073
esv2736600CNV Deletion23290073
dgv178e180CNV Deletion20482838
nsv509252CNV Insertion20534489
dgv56n50CNV Loss21212237
nsv824534CNV Loss20364138
nsv470183CNV Loss18288195

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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for C8orf12:    
About MalaCards
keratolytic winter erythema


Find genes that share disorders with C8orf12           About GenesLikeMe

Genetic Association Database (GAD): C8orf12

Export disorders for C8orf12 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 C8orf12 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C8orf12)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Common genetic variation and performance on standardized cognitive tests. (PubMed id 20125193)1, 4 Cirulli E.T....Goldstein D.B. (Eur. J. Hum. Genet. 2010)
  2. 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)
  3. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. (PubMed id 11896452)1 Appel S.... Rosenthal A. (Eur. J. Hum. Genet. 2002)

(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: 83656 HGNC: 15548 AceView: C8orf12 Ensembl:ENSG00000184608 euGenes: HUgn83656
ECgene: C8orf12 H-InvDB: C8orf12

(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 C8orf12 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 C8orf12 gene:
Search GeneIP for patents involving C8orf12

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, eBioscience, 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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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