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

FAM47C Gene

protein-coding   GIFtS: 33
GCID: GC0XP037026

Family With Sequence Similarity 47, Member C

  Search for FAM47C
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
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


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

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.




(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_000023.10  NC_018934.2  NT_167197.1  
Regulatory elements:
   SABiosciences 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 plasmidFAM47C promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM47C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

(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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5HY64

  • FAM47C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM47C Protein Expression
    REFSEQ proteins: NP_001013758.1  
    ENSEMBL proteins: 
     ENSP00000367913  

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


    FAM47C for domains           About GeneDecksing


    (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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM47C 
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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 FAM47C

    (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 FAM47C (FA47C)

    Search CenterWatch for drugs/clinical trials and news about FAM47C / FA47C

    (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,
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    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 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)
    miRNA
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    Additional mRNA sequence: AK125992.1 

    1 DOTS entry:

    DT.40283264 

    6 AceView cDNA sequences:

    AW016180 AK125992 T19457 AI867768 AW172301 AI125523 

    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

    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


    See FAM47C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM47C

    SOURCE GeneReport for Unigene cluster: Hs.535216
        SABiosciences Custom PCR Arrays for FAM47C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM47C

    (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 FAM47C gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    22(a)
    21(a)
    many ↔ many
    many ↔ many
    5(146835883-146858948)
    5(147048073-147073721)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1582606
    zgc:1582606
    zgc:158260
    20(a)
    20(a)
    many ↔ many
    many ↔ many
    5(56751666-56763258)
    5(56670876-56683246)
            Species with no ortholog for FAM47C

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM47C gene
    FAM47A2  ENSG000002724142  FAM47E2  FAM47B2  
    1 SIMAP similar gene for FAM47C using alignment to 1 protein entry:     FA47C_HUMAN:
    FAM47A

    FAM47C for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FAM47C
    PGOHUM00000246831 PGOHUM00000256836


    (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

    10/184 SNPs in FAM47C are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM47C
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM47C

    (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
      --

    (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 FAM47C gene integrated from 9 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. (2006)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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: 442444 HGNC: 25301 AceView: LOC442444 Ensembl:ENSG00000198173 euGenes: HUgn442444
    ECgene: FAM47C H-InvDB: FAM47C

    (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 FAM47C 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 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



    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    transforming growth factor, beta 1
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