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

C4orf46 Gene

protein-coding   GIFtS: 37
GCID: GC04M159587

chromosome 4 open reading frame 46
  Search for C4orf46
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C4orf46    

Aliases
for C4orf46 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 4 Open Reading Frame 461 2
LOC2017251
Uncharacterized Protein C4orf462

External Ids:    HGNC: 273201   Entrez Gene: 2017252   Ensembl: ENSG000002052087   UniProtKB: Q504U03   

Export aliases for C4orf46 gene to outside databases

Previous GC identifers: GC04M159808 GC04M155337


Summaries
for C4orf46 gene

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

Genomic Views
for C4orf46 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C4orf46 gene promoter:
         Nkx3-1   C/EBPbeta   Pbx1a   SREBP-1c   Nkx3-1 v1   SREBP-1b   Nkx3-1 v2   SREBP-1a   Nkx3-1 v3   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C4orf46 promoter sequence
   Search SABiosciences Chromatin IP Primers for C4orf46

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C4orf46


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

Entrez Gene cytogenetic band: 4q32.1   Ensembl cytogenetic band:  4q32.1   HGNC cytogenetic band: 4q32.1

C4orf46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4orf46 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M159587:  view genomic region     (about GC identifiers)

Start:
 159,587,831 bp from pter      End:
 159,593,407 bp from pter
Size:
 5,577 bases      Orientation:
 minus strand

Proteins
for C4orf46 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CD046_HUMAN, Q504U0 (See protein sequence)
Recommended Name: Uncharacterized protein C4orf46  
Size: 113 amino acids; 11899 Da
Secondary accessions: B3KNH7

Explore the universe of human proteins at neXtProt for C4orf46: NX_Q504U0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q504U0

    • C4orf46 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001008394.1  
    ENSEMBL proteins: 
     ENSP00000368503   ENSP00000421533  

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    Protein Domains /
    Families
    for C4orf46 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q504U0


    Function
    for C4orf46 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: C4orf46 3' UTR sequence
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    1 GenomeRNAi human phenotype for C4orf46:
     Synthetic lethal with Ras 


    Pathways & Interactions
    for C4orf46 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C4orf46

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C4orf46 (ENSP000003685034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Drugs & Compounds
    for C4orf46 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 C4orf46
    Search CenterWatch for drugs/clinical trials and news about C4orf46 / CD046 

    Transcripts
    for C4orf46 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C4orf46 gene: 
    NM_001008393.2  

    Unigene Cluster for C4orf46:

    Chromosome 4 open reading frame 46
    Hs.380920  [show with all ESTs]
    Unigene Representative Sequence: BC094775
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379205(uc003iqa.2 uc010iqp.1) ENST00000508457 ENST00000508836


    miRNA
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    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate C4orf46 (see all 33):
    hsa-miR-548j hsa-miR-3910 hsa-miR-148b* hsa-miR-520d-5p hsa-miR-548i hsa-miR-4272 hsa-miR-4263 hsa-miR-192
    SwitchGear 3'UTR luciferase reporter plasmid: C4orf46 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK027539.1 AK074948.1 AK311718.1 BC065017.1 BC094775.1 

    8 DOTS entries:

    DT.95174278  DT.101963869  DT.309391  DT.100778668  DT.95207471  DT.100861392  DT.100681377  DT.87017313 

    24/92 AceView cDNA sequences (see all 92):

    AL120983 BU685583 BI823282 CA446138 BM711032 AI861990 CA976074 CB046278 
    AI187972 BC065017 BM666122 BQ069550 BM905675 AK074948 BQ437300 BM787823 
    BM905647 BU737123 BQ771555 BQ421850 BU688970 BM715481 CB151175 BI334086 

    GeneLoc Exon Structure


    Expression
    for C4orf46 gene

    (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

    C4orf46 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C4orf46 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSecondary SpermatocyteGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C4orf46 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C4orf46

    SOURCE GeneReport for Unigene cluster: Hs.380920
        SABiosciences Custom PCR Arrays for C4orf46
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C4orf46

    Orthologs
    for C4orf46 gene

    (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 C4orf46 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia 4930579G24Rik1 , 5 RIKEN cDNA 4930579G24 gene1, 5 83.48(n)1
    83.78(a)1    		   3 (34.93 cM)5
    759391  NM_029482.11  NP_083758.11 
     796290795 
    chicken
    (Gallus gallus)    		 Aves C4H4orf461 chromosome 4 open reading frame, human C4orf46 56.35(n)
    66.67(a)    		   769740  XM_001233024.2  XP_001233025.1 


    ENSEMBL Gene Tree for C4orf46 (if available)
    TreeFam Gene Tree for C4orf46 (if available) 

    Paralogs
    for C4orf46 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C4orf46 gene

    C4orf46 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for C4orf46
    PGOHUM00000248960 PGOHUM00000243800 PGOHUM00000249397 PGOHUM00000260972


    Genomic Variants
    for C4orf46 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C4orf46
    DNA2.0 Custom Variant and Variant Library Synthesis for C4orf46

    Disorders / Diseases
    for C4orf46 gene

    (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.)
    About This Section
    		   --

    Publications
    for C4orf46 gene

    (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 C4orf46 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C4orf46)    		    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. (2004)
    2. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (2005)
    6. 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)
    7. 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)

    External Searches for C4orf46 gene

    (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)

    Genome Databases showing C4orf46 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 201725 HGNC: 27320 AceView: LOC201725 Ensembl:ENSG00000205208 euGenes: HUgn201725
    ECgene: C4orf46 H-InvDB: C4orf46

    Other Databases showing C4orf46 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C4orf46 gene

    (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 C4orf46 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C4orf46 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C4orf46 gene:
    Search GeneIP for patents involving C4orf46

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    for C4orf46 gene

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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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