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

C8orf12 Gene

protein-coding   GIFtS: 29
GCID: GC08P011228

Chromosome 8 Open Reading Frame 12

  See 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

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:         
NONCODE14:n385353 n385352      

Export aliases for C8orf12 gene to outside databases

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


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

GeneCards Summary for C8orf12 Gene: 
C8orf12 (chromosome 8 open reading frame 12) is a protein-coding gene, and is affiliated with the lncRNA class. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C8orf12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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 

C8orf12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C8orf12 Protein Expression

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)
About This Section

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,
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

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 C8orf12

(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 C8orf12 (CH012)

Search CenterWatch for drugs/clinical trials and news about 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,
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 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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Inhib. RNA
Products:
     
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C8orf12

24/43 AceView cDNA sequences (see all 43):

BQ057711 AI474649 BQ642283 BQ062075 BQ063270 AJ301562 BQ059744 BQ055552 
BQ056232 AJ301563 NM_054017 BQ063907 AY101186 NR_001578 BX091784 BM909520 
AY101187 BQ065932 BE267834 BM051842 AI439868 BQ642778 AK057762 BI226083 

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
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 
 5/2 selected tissues (see all 2) fully expand
 
 Ovary (Reproductive System)
         Secondary Oocyte Antral Follicle
 
 Gonad
         Secondary Oocyte Antral Follicle

See C8orf12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C8orf12
    SABiosciences Custom PCR Arrays for C8orf12
Primer
Products:
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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)
About This Section

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)
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

10/1481 SNPs in C8orf12 are shown (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) 10/23 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

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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
2 diseases for C8orf12:    About MalaCards
keratolytic winter erythema    


C8orf12 for disorders           About GeneDecksing

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)
About This Section

PubMed articles for C8orf12 gene integrated from 9 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 standardi zed cognitive tests. (PubMed id 20125193)1, 4 Cirulli E.T....Goldstein D.B. (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. (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. (2002)

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

(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 C8orf12 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 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, 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
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About This Section

 
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