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FAM207A Gene

protein-coding   GIFtS: 41
GCID: GC21P046360

Family With Sequence Similarity 207, Member A

(Previous name: chromosome 21 open reading frame 70)
(Previous symbol: C21orf70)
  Search for FAM207A
at  

(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 207, Member A1 2
C21orf701 2 3
Chromosome 21 Open Reading Frame 701
Protein FAM207A2

External Ids:    HGNC: 158111   Entrez Gene: 853952   Ensembl: ENSG000001602567   UniProtKB: Q9NSI23   

Export aliases for FAM207A gene to outside databases


(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 FAM207A Gene:
FAM207A (family with sequence similarity 207, member A) 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:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAM207A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FAM207A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM207A


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3

FAM207A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM207A gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P046360:  view genomic region     (about GC identifiers)

Start:
46,359,925 bp from pter      End:
46,396,904 bp from pter
Size:
36,980 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F207A_HUMAN, Q9NSI2 (See protein sequence)
Recommended Name: Protein FAM207A  
Size: 230 amino acids; 25456 Da
Alternative splicing: 2 isoforms:  Q9NSI2-1   Q9NSI2-2   

Explore the universe of human proteins at neXtProt for FAM207A: NX_Q9NSI2

Explore proteomics data for FAM207A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM207A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_478070.1  
    ENSEMBL proteins: 
     ENSP00000291634   ENSP00000380926   ENSP00000404964  

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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: Q9NSI2

    UniProtKB/Swiss-Prot: F207A_HUMAN, Q9NSI2
    Similarity: Belongs to the FAM207 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for FAM207A:
     Decreased Wnt reporter activit 

    Animal Models:
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    hsa-mir-107 (MIRT048304)

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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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    (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 FAM207A
    Interactions:

        Search GeneGlobe Interaction Network for FAM207A

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for FAM207A (Q9NSI22 ENSP000002916344) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA6P081332MINT-8407259
    CD81P600332MINT-8407259
    CD9P219262MINT-8407259
    CMSS1Q9BQ752MINT-8407259
    DAAM1Q9Y4D12MINT-8407259
    About this table

    (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 FAM207A (F207A)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM207A gene: 
    NM_058190.2  

    Unigene Cluster for FAM207A:

    Family with sequence similarity 207, member A
    Hs.410830  [show with all ESTs]
    Unigene Representative Sequence: BF311160
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291634(uc002zgl.3) ENST00000397826(uc002zgm.3) ENST00000458015
    ENST00000479127 ENST00000485207
    miRNA
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    Additional mRNA sequence: 

    AF391113.1 AF391114.1 BC009341.2 

    11 DOTS entries:

    DT.104636  DT.95182742  DT.100025045  DT.97822812  DT.120791202  DT.100669907  DT.121140327  DT.70101979 
    DT.95182740  DT.95182756  DT.99952163 

    Selected AceView cDNA sequences (see all 64):

    BM466400 BX106951 BM841972 BU500781 CK299649 BU902128 BX279988 BU620573 
    AF391114 AF391113 BC009341 AI983544 BM559304 BM852559 BQ774463 BQ061791 
    NM_058190 AJ345990 AW131856 BM912708 BQ028285 BM810924 BE262050 BM916560 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FAM207A (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b
    SP1:                                      -           -           -                     
    SP2:                                -     -           -           -                     
    SP3:                                -     -           -           -     -               
    SP4:                                                  -           -                     
    SP5:                                      -           -           -     -               


    ECgene alternative splicing isoforms for FAM207A

    (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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    FAM207A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGAGCCT
    FAM207A Expression
    About this image

    FAM207A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM207A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.410830

    UniProtKB/Swiss-Prot: F207A_HUMAN, Q9NSI2
    Tissue specificity: Not detected in any tested tissue

        Custom PCR Arrays for FAM207A
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM207A

    (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 FAM207A gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam207a1 , 5 RIKEN cDNA 1810008A18 gene5
    family with sequence similarity 207, member A1
    79.69(n)1
    74.88(a)1
      10 (39.72 cM)5
    1087071  NM_133998.31  NP_598759.11 
     774866565 
    chicken
    (Gallus gallus)
    Aves FAM207A1 family with sequence similarity 207, member A 58.97(n)
    49.04(a)
      424042  XM_421898.4  XP_421898.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fam207a1 family with sequence similarity 207, member A 53.53(n)
    46.63(a)
      100127600  NM_001112959.1  NP_001106430.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-84a8.81 si:dkeyp-84a8.8 50.16(n)
    40.65(a)
      797099  NM_001045366.1  NP_001038831.1 


    ENSEMBL Gene Tree for FAM207A (if available)
    TreeFam Gene Tree for FAM207A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM207A gene

    FAM207A for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for FAM207A
    PGOHUM00000248501 PGOHUM00000234876 PGOHUM00000239135 PGOHUM00000241818


    (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 FAM207A (see all 962)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1843291541,2
    --46361864(+) CTACCA/GCTCCT 1 -- int10--------
    rs1422610051,2
    --46361883(+) GCTCCC/GTGTCA 1 -- int10--------
    rs739069551,2
    C,F--46361983(+) GGCTCA/GTTGAA 1 -- int13Minor allele frequency- G:0.12WA CSA 122
    rs1894901281,2
    --46362023(+) CAAAAA/GTATGC 1 -- int10--------
    rs1462529511,2
    C--46362053(+) CTACCA/GTGGAG 1 -- int10--------
    rs1818357251,2
    --46362077(+) CAGTGA/GGAAAA 1 -- int10--------
    rs753139641,2
    C,F--46362096(+) CTGCCG/ATATAC 1 -- int13Minor allele frequency- A:0.03NA CSA WA 128
    rs283997231,2
    C,F--46362159(+) TGGTCC/TCTGTT 1 -- int16Minor allele frequency- T:0.11NA WA EA 368
    rs572466881,2
    C,F--46362208(+) ACCTGC/GCTGCC 1 -- int15Minor allele frequency- G:0.25NA WA EA 246
    rs569780621,2
    C,F--46362272(+) TCCCAT/CGTACC 1 -- int13Minor allele frequency- C:0.12WA CSA 122

    HapMap Linkage Disequilibrium report for FAM207A (46359925 - 46396904 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM207A (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723698CNV Deletion23290073
    esv2670703CNV Deletion23128226
    esv2658603CNV Deletion23128226
    esv2218502CNV Deletion18987734
    nsv187379CNV Insertion16902084
    esv1168895CNV Insertion17803354
    nsv913981CNV Loss21882294
    dgv4783n71CNV Loss21882294
    dgv4780n71CNV Loss21882294
    dgv4782n71CNV Loss21882294

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    (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.)
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    (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 FAM207A gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with FAM207A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PubMed id 11707072)1, 2, 9 Reymond A....Antonarakis S.E. (Genomics 2001)
    2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 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. (Genome Res. 2004)
    4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Comparative proteomic analysis identifies a role for SUMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (Sci Signal 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    10. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (Mol. Cell 2008)

    (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: 85395 HGNC: 15811 AceView: C21orf70 Ensembl:ENSG00000160256 euGenes: HUgn85395
    ECgene: FAM207A H-InvDB: FAM207A

    (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 FAM207A 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 FAM207A gene:
    Search GeneIP for patents involving FAM207A

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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