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C8orf31 Gene

protein-coding   GIFtS: 41
GCID: GC08P144120          (predicted)

Chromosome 8 Open Reading Frame 31

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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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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 311 2
Uncharacterized Protein C8orf312

External Ids:    HGNC: 267311   Entrez Gene: 2861222   Ensembl: ENSG000001773357   UniProtKB: Q8N9H63   
ORGUL members:         

Export aliases for C8orf31 gene to outside databases

Previous GC identifers: GC08P144193 GC08P139374


(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 C8orf31 Gene:
C8orf31 (chromosome 8 open reading frame 31) 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_000008.10  NT_008046.17  NT_187573.1  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C8orf31 gene promoter:
         NCX/Ncx   Lmo2   IRF-1   LUN-1   LCR-F1   C/EBPalpha   AREB6   c-Rel   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C8orf31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C8orf31


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

C8orf31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf31 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P144120:  view genomic region     (about GC identifiers)

Start:
144,120,626 bp from pter      End:
144,141,359 bp from pter
Size:
20,734 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: CH031_HUMAN, Q8N9H6 (See protein sequence)
Recommended Name: Uncharacterized protein C8orf31  
Size: 132 amino acids; 14527 Da
Secondary accessions: Q6GMU7
Alternative splicing: 2 isoforms:  Q8N9H6-1   Q8N9H6-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for C8orf31: NX_Q8N9H6

REFSEQ proteins: NP_775958.1  
ENSEMBL proteins: 
 ENSP00000427838   ENSP00000378601  

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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: Q8N9H6


(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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Phenotypes:
     2 GenomeRNAi human phenotypes for C8orf31:
 Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C8orf31

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miRTarBase miRNAs that target C8orf31:
hsa-mir-335-5p (MIRT017828)

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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
mitochondrion2
nucleus2
cytosol1
extracellular1

(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 C8orf31
Interactions:

    Search GeneGlobe Interaction Network for C8orf31

(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 C8orf31 (CH031)



(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 C8orf31 gene: 
NM_173687.2  

Unigene Cluster for C8orf31:

Chromosome 8 open reading frame 31
Hs.660382  [show with all ESTs]
Unigene Representative Sequence: AK094450
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000517653 ENST00000523766 ENST00000523099 ENST00000524181 ENST00000395172(uc003yxp.1 uc003yxq.1 uc003yxr.1)
ENST00000519775 ENST00000520786
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Additional mRNA sequence: 

AK094450.1 BC063497.1 BC073830.1 BC120993.2 

6 DOTS entries:

DT.99999040  DT.40211383  DT.40300546  DT.120639837  DT.40114243  DT.91819809 

17 AceView cDNA sequences:

AI870525 BC063497 BI554105 C01896 AW103100 BM992177 AA348065 BX096051 
AK094450 BC073830 NM_173687 AA375300 AI824495 AW193111 AA010253 AA010252 
BE541521 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C8orf31    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6
SP1:        -                                 
SP2:                    -           -         
SP3:                    -                     


ECgene alternative splicing isoforms for C8orf31

(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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C8orf31 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACACCCGGGA
C8orf31 Expression
About this image


C8orf31 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 NULL (Uncategorized)
         Endoderm progenitor-like cells
C8orf31 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.660382
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf31

(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 C8orf31 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia C8H8orf311 chromosome 8 open reading frame, human C8orf31 93.89(n)
93.33(a)
  100608151  XM_003311945.2  XP_003311993.1 


ENSEMBL Gene Tree for C8orf31 (if available)
TreeFam Gene Tree for C8orf31 (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 C8orf31 (see all 523)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs40741991,2
C,F,A--139372111(+) ggtggG/Atccct 1 -- us2k17Minor allele frequency- A:0.37WA NA CSA EA 365
rs45170971,2
C,F,A,H--139372132(+) GGAGAA/CATAGC 1 -- us2k1 trp311Minor allele frequency- C:0.47NS EA WA NA CSA 784
rs45170981,2
C,F,A--139372148(+) gggacG/Acgtca 1 -- us2k111Minor allele frequency- A:0.22NA WA CSA EA 373
rs2019566731,2
--139372157(+) CACAC-/TTTCAA 1 -- us2k10--------
rs1902636231,2
--144118704(+) ACCATC/TTCATC 1 -- us2k10--------
rs1164152341,2
F--144118756(+) ACCCCG/AGCCAC 1 -- us2k11Minor allele frequency- A:0.03WA 118
rs3752921531,2
C--144118808(+) TGAGG-/TCATGGTCCTCAC
ATTTGGCTCAGAATAA
ACCTC
1 -- us2k10--------
rs1388963271,2
C--144118845(+) TCTTC-/AAATAT 1 -- us2k10--------
rs78175021,2
C,F--144118888(+) CCATCC/TTGTAA 1 -- us2k11Minor allele frequency- T:0.07WA 118
rs724991231,2
C,F--144118896(+) TAAAAC/TGCAGA 1 -- us2k12Minor allele frequency- T:0.12WA EA 238

HapMap Linkage Disequilibrium report for C8orf31 (144120626 - 144141359 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for C8orf31:    About this table    
Variant IDTypeSubtypePubMed ID
esv2670756CNV Deletion23128226
esv2737948CNV Deletion23290073
nsv6437CNV Insertion18451855
nsv512976CNV Insertion21212237
esv1451224CNV Insertion17803354
esv25583CNV Loss19812545
nsv465991CNV Loss19166990
nsv891650CNV Gain21882294
esv33872CNV Gain17666407

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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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  --

(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 C8orf31 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C8orf31)
    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)

(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: 286122 HGNC: 26731 AceView: FLJ37131 Ensembl:ENSG00000177335 euGenes: HUgn286122
ECgene: C8orf31 H-InvDB: C8orf31

(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 C8orf31 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 C8orf31 gene:
Search GeneIP for patents involving C8orf31

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
Advanced Cell Diagnostics, Animal models from genOway)
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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      C8orf31 gene at Home site.
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