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

FAM46C Gene

protein-coding   GIFtS: 46
GCID: GC01P118148

family with sequence similarity 46, member C

 Explore 4 diseases affiliated with
FAM46C via our new
 Human Malady Compendium 
Biological research products
for FAM46C
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Family With Sequence Similarity 46, Member C1 2
FLJ202021
Protein FAM46C2

External Ids:    HGNC: 247121   Entrez Gene: 548552   Ensembl: ENSG000001835087   OMIM: 6139525   UniProtKB: Q5VWP23   

Export aliases for FAM46C gene to outside databases

Previous GC identifers: GC01P117860 GC01P117950 GC01P116005


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

UniProtKB/Swiss-Prot: FA46C_HUMAN, Q5VWP2
Function: Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon




(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM46C gene promoter:
         USF1   AML1a   Nkx2-5   E4BP4   Nkx5-1   Tal-1beta   Evi-1   E47   USF-1   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM46C promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM46C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM46C


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

Entrez Gene cytogenetic band: 1p12   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

FAM46C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM46C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P118148:  view genomic region     (about GC identifiers)

Start:
118,148,556 bp from pter      End:
118,171,011 bp from pter
Size:
22,456 bases      Orientation:
plus strand

(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: FA46C_HUMAN, Q5VWP2 (See protein sequence)
Recommended Name: Protein FAM46C  
Size: 391 amino acids; 44944 Da
Secondary accessions: A3KMG2 Q8NE25 Q9NXK0

Explore the universe of human proteins at neXtProt for FAM46C: NX_Q5VWP2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VWP2

  • FAM46C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060179.2  
    ENSEMBL proteins: 
     ENSP00000358458  

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    Uscn Proteins for FAM46C


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

    FAM46C for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012937 DUF1693

    Graphical View of Domain Structure for InterPro Entry Q5VWP2

    ProtoNet protein and cluster: Q5VWP2

    1 Blocks protein family: IPB012937 Protein of unknown function DUF1693

    UniProtKB/Swiss-Prot: FA46C_HUMAN, Q5VWP2
    Similarity: Belongs to the FAM46 family


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: FA46C_HUMAN, Q5VWP2
    Function: Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon
    Induction: By type I interferons

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    Inhib. RNA
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    3 GenomeRNAi human phenotypes for FAM46C:
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content 


    (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 FAM46C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/11 Interacting proteins for FAM46C (Q5VWP22, 3 ENSP000003584584) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLK4O004442, 3, ENSP000002708614MINT-67059 I2D: score=5 STRING: ENSP00000270861
    AP2B1P630102, 3, ENSP000003144144MINT-68126 I2D: score=5 STRING: ENSP00000314414
    TRIP6Q156542, 3, ENSP000002004574MINT-66429 I2D: score=5 STRING: ENSP00000200457
    DAZAP2Q150382, 3, ENSP000004049684MINT-66199 I2D: score=4 STRING: ENSP00000404968
    CPSF7Q8N6843I2D: score=1 
    About this table

    (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 FAM46C
    Search CenterWatch for drugs/clinical trials and news about FAM46C / FA46C 

    (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 FAM46C gene: 
    NM_017709.3  

    Unigene Cluster for FAM46C:

    Family with sequence similarity 46, member C
    Hs.356216  [show with all ESTs]
    Unigene Representative Sequence: NM_017709
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000369448(uc001ehe.3)

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    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM46C (see all 114):
    hsa-miR-576-3p hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-200a hsa-miR-30d hsa-miR-371-5p hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidFAM46C 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM46C (see all 4)
    OriGene shRNA RFP: FAM46C
    OriGene siRNA: FAM46C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM46C
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM46C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM46C

    Additional cDNA sequence: 

    AK000209.1 AK091327.1 BC036516.2 BC131726.1 

    7 DOTS entries:

    DT.100749760  DT.114680  DT.121463791  DT.100738160  DT.121463775  DT.121463738  DT.121463826 

    24/108 AceView cDNA sequences (see all 108):

    H63792 AI207563 AK091327 AW407254 AA342944 AW514641 N76797 AW503624 
    AL046016 AL046017 AA620782 BM727587 AI214292 BM729327 AI634701 AI828223 
    AA933047 NM_017709 AI624555 BM972348 AI114522 BM973277 BI460186 AW440742 

    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

    FAM46C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTGCAGCCT

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

    About this image

    FAM46C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM46C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM46C

    SOURCE GeneReport for Unigene cluster: Hs.356216
        SABiosciences Custom PCR Arrays for FAM46C
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM46C

    (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 animals.

    Orthologs for FAM46C gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM46C1 family with sequence similarity 46, member C 78.8(n)
    89.49(a)
      426544  NM_001007972.1  NP_001007973.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661972 hypothetical protein MGC66197 73.9(n)   393479  BC048046.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304971 CG30497 62.91(n)
    63.5(a)
      246653  NM_136477.3  NP_610321.2 
    worm
    (Caenorhabditis elegans)
    Secernentea pqn-441 Protein PQN-44 52.3(n)
    48.28(a)
      172187  NM_059179.1  NP_491580.1 


    ENSEMBL Gene Tree for FAM46C (if available)
    TreeFam Gene Tree for FAM46C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM46C gene
    FAM46B2  FAM46D2  FAM46A2  
    4 SIMAP similar genes for FAM46C using alignment to 1 protein entry:     FA46C_HUMAN:
    FAM46A    XTP11    FAM46D    FAM46B

    FAM46C for paralogs           About GeneDecksing



    (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

    10/443 NCBI SNPs in FAM46C are shown (see all 443    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs75139101,2
    C,--116004217(+) TGGAAG/AAGTAG 1 -- nc-transcript-variant2Minor allele frequency- A:0.10WA 120
    rs585885941,2
    C,--116004600(+) ACTCGC/GTATGT 1 -- int12Minor allele frequency- G:0.10WA 120
    rs750686781,2
    C,F,--116004960(+) ATCCCC/TAGAGA 1 -- int11Minor allele frequency- T:0.04EA 120
    rs412765881,2
    C,--116005100(+) GTTAAG/ATGGGT 1 -- us2k15Minor allele frequency- A:0.16NA WA EA 362
    rs561225771,2
    C,--116005107(+) GGGTGT/CCGACG 1 -- us2k12Minor allele frequency- C:0.10WA 120
    rs557717341,2
    F,--116005117(+) GCAGCC/TCCCTC 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs730043601,2
    C,--116005168(+) CCTTCC/ACGCCG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs783611411,2
    C,--116006297(+) TGAAAA/GGCCAC 1 -- us2k12Minor allele frequency- G:0.11CSA WA 120
    rs1466472281,2
    --118146659(+) ACCAAC/TACTGG 2 -- int1 us2k10--------
    rs1157041091,2
    --118146683(+) CAACCG/AGAAAT 2 -- int1 us2k11Minor allele frequency- A:0.01NA 120

    HapMap Linkage Disequilibrium report for FAM46C (118148556 - 118171011 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM46C
         1 CNV: 58328

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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.)
    About This Section

    FAM46C for disorders           About GeneDecksing

    OMIM gene information: 613952    OMIM disorders: --

    4 diseases for FAM46C:    About MalaCards
    venezuelan equine encephalitis    yellow fever    chikungunya    encephalitis


    Export disorders for FAM46C 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 FAM46C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM46C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A diverse range of gene products are effectors of the type I interferon antiviral response. (PubMed id 21478870)1, 2 Schoggins J.W.... Rice C.M. (2011)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2002)
    6. Mapping of chromosome 1p deletions in myeloma identifi es FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival. (PubMed id 21994415)1 Boyd K.D....Morgan G.J. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (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: 54855 HGNC: 24712 AceView: FAM46C Ensembl:ENSG00000183508 euGenes: HUgn54855
    ECgene: FAM46C H-InvDB: FAM46C

    (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 FAM46C 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 FAM46C gene:
    Search GeneIP for patents involving FAM46C

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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 


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