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

C3orf70 Gene

protein-coding   GIFtS: 36
GCID: GC03M184795          (predicted)

Chromosome 3 Open Reading Frame 70

  Search for C3orf70
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 3 Open Reading Frame 701 2
UPF0524 Protein C3orf702

External Ids:    HGNC: 337311   Entrez Gene: 2853822   Ensembl: ENSG000001870687   UniProtKB: A6NLC53   

Export aliases for C3orf70 gene to outside databases

Previous GC identifers: GC03M186278 GC03M182205


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

GeneCards Summary for C3orf70 Gene: 
C3orf70 (chromosome 3 open reading frame 70) 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_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C3orf70 gene promoter:
         AhR   STAT5B   Nkx2-5   GATA-2   Arnt   POU2F1   POU2F1a   POU2F1b   Chx10   POU2F1c   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C3orf70

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3orf70


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

Entrez Gene cytogenetic band: 3q27.2   Ensembl cytogenetic band:  3q27.2   HGNC cytogenetic band: 3q27

C3orf70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf70 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M184795:  view genomic region     (about GC identifiers)

Start:
184,795,838 bp from pter      End:
184,870,802 bp from pter
Size:
74,965 bases      Orientation:
minus 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: CC070_HUMAN, A6NLC5 (See protein sequence)
Recommended Name: UPF0524 protein C3orf70  
Size: 250 amino acids; 27769 Da
Secondary accessions: B2RNY2 B9EH83

Explore the universe of human proteins at neXtProt for C3orf70: NX_A6NLC5

Explore proteomics data for C3orf70 at MOPED 

C3orf70 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C3orf70 Protein Expression

REFSEQ proteins: NP_001020437.1  
ENSEMBL proteins: 
 ENSP00000334974  

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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: A6NLC5

UniProtKB/Swiss-Prot: CC070_HUMAN, A6NLC5
Similarity: Belongs to the UPF0524 family


(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 C3orf70:
 Big cells 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for C3orf70 
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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 C3orf70

(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 C3orf70 (CC070)

Search CenterWatch for drugs/clinical trials and news about C3orf70 / CC070

(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 C3orf70 gene: 
NM_001025266.1  

Unigene Cluster for C3orf70:

Chromosome 3 open reading frame 70
Hs.380048  [show with all ESTs]
Unigene Representative Sequence: NM_001025266
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000335012(uc003fpd.3)
miRNA
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Inhib. RNA
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Additional mRNA sequence: 

BC127694.1 BC127695.1 BC137178.1 BC137179.1 BC150565.1 BC150566.1 

2 DOTS entries:

DT.40207995  DT.75100287 

4 AceView cDNA sequences:

BF513211 AA974660 AK091454 AX746993 

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

C3orf70 expression in normal human tissues (normalized intensities)      C3orf70 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTCAGTTAG
C3orf70 Expression
About this image


C3orf70 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/5 selected tissues (see all 5) fully expand
 
 Neural Tube (Nervous System)    fully expand to see all 4 entries
         Metencephalon
 
 Inner Cell Mass (Early Embryonic Tissues)
         Blimp1- mVenus and stella-ECFP genetically modified stem cells
 
 Blood (Hematopoietic System)
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
 
 Eye (Sensory Organs)
         Retina
 
 Brain (Nervous System)
         Fetal Neuronal Stem Cells (NSC)   

See C3orf70 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C3orf70

SOURCE GeneReport for Unigene cluster: Hs.380048
    SABiosciences Custom PCR Arrays for C3orf70
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3orf70

(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 chordates.

Orthologs for C3orf70 gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2510009E07Rik1 , 5 RIKEN cDNA 2510009E07 gene1, 5 88.71(n)1
94.76(a)1
  16 (12.80 cM)5
721901  NM_001001881.21  NP_001001881.11 
 216490455 
chicken
(Gallus gallus)
Aves LOC1008573071 UPF0524 protein C3orf70 homolog 78.08(n)
83.15(a)
  100857307  XM_003641745.1  XP_003641793.1 
zebrafish
(Danio rerio)
Actinopterygii 570861562   -- 71.55(n)    57086156 


ENSEMBL Gene Tree for C3orf70 (if available)
TreeFam Gene Tree for C3orf70 (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

10/1784 SNPs in C3orf70 are shown (see all 1784)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2005459201,2
C--184795344(+) AGGTT-/GTTCAA 1 -- ds50010--------
rs168595791,2
C,F,H--184795385(+) TGAGTA/GTGGAC 1 -- ds50016Minor allele frequency- G:0.02NA EA NS 386
rs768718671,2
C,F--184795397(+) TGCCGC/TGCTGA 1 -- ds50011Minor allele frequency- T:0.04WA 118
rs1462771191,2
--184795398(+) GCCGCA/GCTGAG 1 -- ds50010--------
rs1381880761,2
C--184795440(+) CCCCCC/GCAAGC 1 -- ds50010--------
rs1914375641,2
--184795490(+) TTAGAA/GCTGCA 1 -- ds50010--------
rs1817688891,2
--184795542(+) GGCTGA/TAACTG 1 -- ds50010--------
rs2014745251,2
C--184795568(+) CTATT-/TGGTGGTG 1 -- ds50010--------
rs1447306331,2
--184795577(+) GGTGG-/TGGGGG 1 -- ds50010--------
rs3677838331,2
C--184795577(+) GTGGT-/GGGGGGG 1 -- ds50010--------

HapMap Linkage Disequilibrium report for C3orf70 (184795838 - 184870802 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C3orf70:    About this table     
Variant IDTypeSubtypePubMed ID
nsv521893CNV Loss19592680

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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

C3orf70 for disorders           About MalaCards

C3orf70 for disorders           About GeneDecksing

Genetic Association Database (GAD): C3orf70

Export disorders for C3orf70 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 C3orf70 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C3orf70)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association study of major depressive dis order: new results, meta-analysis, and lessons learned. (PubMed id 21042317)1, 4 Wray N.R....Sullivan P.F. (2010)
  2. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
  3. 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)
  4. 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)

(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: 285382 HGNC: 33731 AceView: LOC285382 Ensembl:ENSG00000187068 euGenes: HUgn285382
ECgene: C3orf70 H-InvDB: C3orf70

(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 C3orf70 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 C3orf70 gene:
Search GeneIP for patents involving C3orf70

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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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C3orf70
 inGenious Targeting Laboratory - Custom generated mouse model solutions for C3orf70
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C3orf70
Customized:
 lentivirus for stable overexpression of C3orf70
 lentivirus expression plasmids for stable overexpression of C3orf70
 adenovirus for overexpression of C3orf70
 LSBio Antibodies in human, mouse, rat for C3orf70
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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