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FAM47C Gene

protein-coding   GIFtS: 35
GCID: GC0XP037026

Family With Sequence Similarity 47, Member C

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Aliases
for FAM47C gene

(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
Family With Sequence Similarity 47, Member C1 2
Putative Protein FAM47C2

External Ids:    HGNC: 253011   Entrez Gene: 4424442   Ensembl: ENSG000001981737   UniProtKB: Q5HY643   

Export aliases for FAM47C gene to outside databases

Previous GC identifer: GC0XP036936


Summaries
for FAM47C gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FAM47C Gene:
This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this
family member includes several tandemly repeated regions. (provided by RefSeq, Sep 2011)

GeneCards Summary for FAM47C Gene:
FAM47C (family with sequence similarity 47, member C) is a protein-coding gene. An important paralog of this gene is FAM47A.




Genomic Views
for FAM47C 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_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM47C gene promoter:
         POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   Evi-1   POU2F1   FOXO4   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM47C promoter sequence
   Search Chromatin IP Primers for FAM47C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM47C


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

Entrez Gene cytogenetic band: Xp21.1   Ensembl cytogenetic band:  Xp21.1   HGNC cytogenetic band: Xp21.1

FAM47C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM47C gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP037026:  view genomic region     (about GC identifiers)

Start:
 37,026,432 bp from pter      End:
 37,029,739 bp from pter
Size:
 3,308 bases      Orientation:
 plus strand

Proteins
for FAM47C gene

(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: FA47C_HUMAN, Q5HY64 (See protein sequence)
Recommended Name: Putative protein FAM47C  
Size: 1035 amino acids; 115338 Da
Sequence caution: Sequence=BAC86381.1; Type=Erroneous initiation;
Secondary accessions: Q6ZU46

Explore the universe of human proteins at neXtProt for FAM47C: NX_Q5HY64

Explore proteomics data for FAM47C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See FAM47C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001013758.1  
    ENSEMBL proteins: 
     ENSP00000367913  

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    antibodies-online kits for FAM47C (2 products) 

    Domains /
    Families
    for FAM47C gene

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

    TryGeneCards Plus    		 1 InterPro protein domain:
     IPR026083 FAM47

    Graphical View of Domain Structure for InterPro Entry Q5HY64

    ProtoNet protein and cluster: Q5HY64

    UniProtKB/Swiss-Prot: FA47C_HUMAN, Q5HY64
    Similarity: Belongs to the FAM47 family


    Find genes that share domains with FAM47C           About GenesLikeMe


    Function
    for FAM47C gene

    (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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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAM47C

    miRNA
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    Localization
    for FAM47C gene

    (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

    Pathways & Interactions
    for FAM47C gene

    (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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    Interactions:

        Search GeneGlobe Interaction Network for FAM47C

    Drugs & Compounds
    for FAM47C gene

    (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 FAM47C (FA47C)



    Transcripts
    for FAM47C gene

    (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 FAM47C gene: 
    NM_001013736.2  

    Unigene Cluster for FAM47C:

    Family with sequence similarity 47, member C
    Hs.535216  [show with all ESTs]
    Unigene Representative Sequence: NM_001013736
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000358047(uc004ddl.2)
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    Additional mRNA sequence: AK125992.1 

    1 DOTS entry:

    DT.40283264 

    6 AceView cDNA sequences:

    AW016180 AK125992 AI125523 T19457 AW172301 AI867768 

    GeneLoc Exon Structure


    Expression
    for FAM47C 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™, 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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    FAM47C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FAM47C Expression
    About this image

    FAM47C Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    FAM47C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.535216
        Custom PCR Arrays for FAM47C
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    Orthologs
    for FAM47C 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FAM47C gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 Uncharacterized protein
    		 26(a)
    22(a)
    		 many ↔ many
    many ↔ many
    		 5(146835883-146858948)
    5(147048073-147073721)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1582606
    zgc:1582606
    		 zgc:158260
    		 23(a)
    22(a)
    		 many ↔ many
    many ↔ many
    		 5(56670876-56683246) ENSDARG00000067694
    5(56751666-56763258) ENSDARG00000089020
            Species with no ortholog for FAM47C

    ENSEMBL Gene Tree for FAM47C (if available)
    TreeFam Gene Tree for FAM47C (if available)

    Paralogs
    for FAM47C gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM47C gene
    FAM47A2  FAM47E2  FAM47B2  
    1 SIMAP similar gene for FAM47C using alignment to 1 protein entry:     FA47C_HUMAN:
    FAM47A

    Find genes that share paralogs with FAM47C           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for FAM47C
    PGOHUM00000246831 PGOHUM00000256836


    Genomic Variants
    for FAM47C gene

    (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 FAM47C (see all 184)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs625885011,2
    		C,F--36938950(+) CCTATT/ATAAAA 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs284957241,2
    		C,F,H--36939391(+) CTGATG/ATTATT 1 -- us2k113Minor allele frequency- A:0.14NS NA EA WA CSA 1297
    rs1815027491,2
    		--36939415(+) AGGATC/TGCAAC 1 -- us2k10--------
    rs1996953621,2
    		--36939559(+) AGTTT-/AGTAAG 1 -- us2k10--------
    rs1997887991,2
    		C--36939560(+) GAGTT-/A/CTAAGG 1 -- us2k10--------
    rs1508821621,2
    		C--36939687(+) AAAATC/TTGGGG 1 -- us2k10--------
    rs1401594971,2
    		--36940079(+) ATTGAC/TCCACA 1 -- us2k10--------
    rs1842630601,2
    		--36940184(+) ATAGAA/CACATT 1 -- us2k10--------
    rs1456373391,2
    		C--36940241(+) TTAAAC/TAAATT 1 -- us2k10--------
    rs2006546211,2
    		--36940355(+) CAAAT-/AAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM47C (37026432 - 37029739 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FAM47C: --
    Locus Specific Mutation Databases (LSDB): FAM47C

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    Disorders / Diseases
    for FAM47C 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

    TryGeneCards Plus    		   --

    Publications
    for FAM47C 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)
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    PubMed articles for FAM47C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM47C)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    External Searches for FAM47C gene

    (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)

    Genome Databases showing FAM47C gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 442444 HGNC: 25301 AceView: LOC442444 Ensembl:ENSG00000198173 euGenes: HUgn442444
    ECgene: FAM47C H-InvDB: FAM47C

    Other Databases showing FAM47C gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing FAM47C gene

    (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 FAM47C Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FAM47C gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for FAM47C gene:
    Search GeneIP for patents involving FAM47C

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



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    for FAM47C gene

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    Advanced Cell Diagnostics, Animal models from genOway)
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM47C
     Browse SwitchGear 3'UTR luciferase reporter plasmids for FAM47C
     SwitchGear Promoter luciferase reporter plasmids for FAM47C
     Search ThermoFisher Antibodies for FAM47C
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FAM47C
     Browse compounds at ApexBio
     Search Addgene for plasmids for FAM47C
      Search eBioscience for proteins for FAM47C
      Search eBioscience for elisas for FAM47C
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for FAM47C
      Search antibodies-online for antibodies for FAM47C
     antibodies-online kits for FAM47C (2 products)
      Search antibodies-online for peptides for FAM47C
      Search antibodies-online for proteins for FAM47C
           
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