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C4orf47 Gene

protein-coding   GIFtS: 37
GCID: GC04P186350          (predicted)

Chromosome 4 Open Reading Frame 47

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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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Aliases
Chromosome 4 Open Reading Frame 471 2
UPF0602 Protein C4orf472

External Ids:    HGNC: 343461   Entrez Gene: 4410542   Ensembl: ENSG000002051297   UniProtKB: A7E2U83   

Export aliases for C4orf47 gene to outside databases

Previous GC identifers: GC04P186587 GC04P182103


(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 C4orf47 Gene:
C4orf47 (chromosome 4 open reading frame 47) 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_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C4orf47 gene promoter:
         ISGF-3   STAT1   AML1a   HOXA5   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C4orf47

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C4orf47


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

Entrez Gene cytogenetic band: 4q35.1   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35.1

C4orf47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4orf47 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P186350:  view genomic region     (about GC identifiers)

Start:
186,347,394 bp from pter      End:
186,370,980 bp from pter
Size:
23,587 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., 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: CD047_HUMAN, A7E2U8 (See protein sequence)
Recommended Name: UPF0602 protein C4orf47  
Size: 309 amino acids; 34376 Da
Secondary accessions: Q5BLP7

Explore the universe of human proteins at neXtProt for C4orf47: NX_A7E2U8

Explore proteomics data for C4orf47 at MOPED


See C4orf47 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001107829.1  
ENSEMBL proteins: 
 ENSP00000424545   ENSP00000422279   ENSP00000423127   ENSP00000421376   ENSP00000425418  
 ENSP00000368127  

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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: A7E2U8

UniProtKB/Swiss-Prot: CD047_HUMAN, A7E2U8
Similarity: Belongs to the UPF0602 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,
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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(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
nucleus3
cytosol2
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 C4orf47
Interactions:

    Search GeneGlobe Interaction Network for C4orf47

(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 C4orf47 (CD047)



(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 C4orf47 gene: 
NM_001114357.1  

Unigene Cluster for C4orf47:

Chromosome 4 open reading frame 47
Hs.549398  [show with all ESTs]
Unigene Representative Sequence: BG183597
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000501066 ENST00000511138 ENST00000511581 ENST00000512770 ENST00000508698(uc003ixs.2)
ENST00000378850(uc003ixt.2)
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Additional mRNA sequence: 

AY947525.1 BC127739.1 BC141967.1 BC141968.1 BC150574.1 

6 DOTS entries:

DT.121224483  DT.40111889  DT.121224467  DT.40130728  DT.429566  DT.70105478 

Selected AceView cDNA sequences (see all 29):

AW293376 AI968897 CR595267 BG190476 AW002918 AI243515 AW663982 BQ429300 
AI206147 AW592328 BG186230 AI858275 BG214312 BG201680 BX381714 BG220495 
BG219993 C17902 CA335367 BG210493 BG184108 AW235254 BG187247 AI150508 

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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C4orf47 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGGCTTAGGA
C4orf47 Expression
About this image


C4orf47 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Ovary (Reproductive System)
         Secondary Oocyte Antral Follicle
 
 Neurons
         Mature Rod Cells Outer Nuclear Layer
 
 Gonad
         Secondary Oocyte Antral Follicle
 
 Eye (Sensory Organs)
         Mature Rod Cells Outer Nuclear Layer
C4orf47 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C4orf47 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.549398

UniProtKB/Swiss-Prot: CD047_HUMAN, A7E2U8
Tissue specificity: Detected in testis and fetal liver

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In Situ
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for C4orf47 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1700029J07Rik1 , 5 RIKEN cDNA 1700029J07 gene1, 5 81.2(n)1
77.7(a)1
  8 (25.94 cM)5
694791  NM_001033148.31  NP_001028320.11 
 459536065 
chicken
(Gallus gallus)
Aves C4H4ORF471 chromosome 4 open reading frame, human C4orf47 72.62(n)
68.18(a)
  422718  XM_004935975.1  XP_004936032.1 
lizard
(Anolis carolinensis)
Reptilia C4orf476
chromosome 4 open reading frame 47
65(a)
1 ↔ 1
5(112830267-112854801)
tropical clawed frog
(Xenopus tropicalis)
Amphibia c4orf471 chromosome 4 open reading frame 47 63.82(n)
58.55(a)
  100379819  XM_002934264.2  XP_002934310.1 
zebrafish
(Danio rerio)
Actinopterygii zgc:1531461 zgc:153146 62.56(n)
55.67(a)
  751702  NM_001045414.1  NP_001038879.1 


ENSEMBL Gene Tree for C4orf47 (if available)
TreeFam Gene Tree for C4orf47 (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 C4orf47 (see all 382)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs285370691,2
C--186349183(+) TGCAGA/TGAGCC 1 -- us2k10--------
rs1895959201,2
--186349196(+) GATCGA/CGCTAT 1 -- us2k10--------
rs557427351,2
C--186349241(+) AAAAA-/ATGGTT 1 -- us2k11Minor allele frequency- A:0.00NA 2
rs1140254981,2
C--186349263(+) GGTTCG/TTACTT 1 -- us2k10--------
rs1157056311,2
--186349265(+) TTCTTA/TCTTTG 1 -- us2k10--------
rs48616641,2
C,F,A--186349316(+) cacttG/Atgtat 1 -- us2k110Minor allele frequency- A:0.35NA WA CSA EA 372
rs1149858331,2
F--186349319(+) TTATGT/AATGCC 1 -- us2k11Minor allele frequency- A:0.03NA 120
rs1486413711,2
--186349449(+) CTGGCA/CGGGCG 1 -- us2k10--------
rs68498951,2
C,A--186349552(+) gttaaA/Gccctg 1 -- us2k10--------
rs1858902441,2
--186349600(+) CGCGTA/GTCTGT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C4orf47 (186347394 - 186370980 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for C4orf47:    About this table    
Variant IDTypeSubtypePubMed ID
esv273979CNV Insertion20981092
nsv4638CNV Insertion18451855
esv268794CNV Insertion20981092
esv1192975CNV Insertion17803354
nsv881506CNV Gain21882294
nsv527026CNV Gain19592680
nsv517035CNV Gain+Loss19592680
nsv428456CNV Gain+Loss18775914
dgv1724e1CNV Complex17122850

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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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Find genes that share disorders with C4orf47           About GenesLikeMe

Genetic Association Database (GAD): C4orf47
Human Genome Epidemiology (HuGE) Navigator: C4orf47 (1 document)

Export disorders for C4orf47 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 C4orf47 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C4orf47)
    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. (Mol. Med. 2010)
  2. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. (PubMed id 15809229)1, 2 Castelo R.... Eyras E. (Nucleic Acids Res. 2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 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: 441054 HGNC: 34346 AceView: LOC441054 Ensembl:ENSG00000205129 euGenes: HUgn441054
ECgene: C4orf47 H-InvDB: C4orf47

(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 C4orf47 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 C4orf47 gene:
Search GeneIP for patents involving C4orf47

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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 ELISAs for C4orf47
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 Browse ESI BIO Cell Lines and PureStem Progenitors for C4orf47
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C4orf47
 Browse SwitchGear 3'UTR luciferase reporter plasmids for C4orf47
 Browse SwitchGear Promoter luciferase reporter plasmids for C4orf47
 ThermoFisher Antibodies for C4orf47
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C4orf47
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C4orf47
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C4orf47
 LSBio Antibodies in human, mouse, rat for C4orf47
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
 Search Addgene for plasmids for C4orf47
  Search eBioscience for proteins for C4orf47
  Search eBioscience for elisas for C4orf47
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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