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FAM217B Gene

protein-coding   GIFtS: 38
GCID: GC20P058509

Family With Sequence Similarity 217, Member B

(Previous name: chromosome 20 open reading frame 177)
(Previous symbol: C20orf177)
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(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 217, Member B1 2
C20orf1771 2 3
Chromosome 20 Open Reading Frame 1771
dJ551D2.52
Protein FAM217B2
Uncharacterized Protein C20orf1772

External Ids:    HGNC: 161701   Entrez Gene: 639392   Ensembl: ENSG000001962277   UniProtKB: Q9NTX93   

Export aliases for FAM217B 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 FAM217B Gene:
FAM217B (family with sequence similarity 217, member B) 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 at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAM217B
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM217B promoter sequence
   Search Chromatin IP Primers for FAM217B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM217B


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

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

FAM217B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM217B gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P058509:  view genomic region     (about GC identifiers)

Start:
58,508,819 bp from pter      End:
58,523,735 bp from pter
Size:
14,917 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, 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: F217B_HUMAN, Q9NTX9 (See protein sequence)
Recommended Name: Protein FAM217B  
Size: 383 amino acids; 42052 Da
Secondary accessions: B3KWH1 Q9NTA3

Explore the universe of human proteins at neXtProt for FAM217B: NX_Q9NTX9

Explore proteomics data for FAM217B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM217B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177755.1  NP_001177756.1  NP_071389.1  

    ENSEMBL proteins: 
     ENSP00000351040   ENSP00000354056   ENSP00000414543  

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    antibodies-online proteins for FAM217B (2 products) 

     
    antibodies-online peptides for FAM217B

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    antibodies-online antibodies for FAM217B (13 products) 

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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: Q9NTX9

    UniProtKB/Swiss-Prot: F217B_HUMAN, Q9NTX9
    Similarity: Belongs to the FAM217 family


    (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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    Phenotypes:
         1 GenomeRNAi human phenotype for FAM217B:
     Increased homologous recombina 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAM217B

    miRNA
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    miRTarBase miRNAs that target FAM217B:
    hsa-mir-27a-3p (MIRT028736), hsa-mir-101-3p (MIRT027372), hsa-mir-21-5p (MIRT030904), hsa-mir-128-3p (MIRT022099)

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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 FAM217B
    Interactions:

        Search GeneGlobe Interaction Network for FAM217B

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

    1 Interacting protein for FAM217B (ENSP000003510404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    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 FAM217B (F217B)



    (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 FAM217B gene (3 alternative transcripts): 
    NM_001190826.1  NM_001190827.1  NM_022106.2  

    Unigene Cluster for FAM217B:

    Family with sequence similarity 217, member B
    Hs.54973  [show with all ESTs]
    Unigene Representative Sequence: NM_001190826
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358293(uc002yba.3) ENST00000360816(uc002ybc.3 uc010zzx.2)
    ENST00000469084 ENST00000421092
    miRNA
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    Primer
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    Additional mRNA sequence: 

    AK074295.1 AK125073.1 AK304220.1 AL137442.1 BC020771.1 BC054002.1 

    11 DOTS entries:

    DT.95162283  DT.95162286  DT.101981416  DT.95162287  DT.443807  DT.95088415  DT.95162288  DT.120818550 
    DT.95162285  DT.100747416  DT.91906570 

    Selected AceView cDNA sequences (see all 126):

    BQ212337 AA211172 BX363280 BQ645912 AA994842 AI768939 AA442210 AA356065 
    BE396080 CB159578 BC020771 AI420895 AA442098 AW088641 CR612343 AA974689 
    CB122565 AA555013 BU508746 BC054002 AA939007 F13169 AI280104 NM_022106 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FAM217B    About this scheme

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


    ECgene alternative splicing isoforms for FAM217B

    (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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    FAM217B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTATTGTA
    FAM217B Expression
    About this image

    FAM217B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM217B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.54973
        Custom PCR Arrays for FAM217B
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM217B

    (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 FAM217B gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam217b1 , 5 RIKEN cDNA 9030418K01 gene5
    family with sequence similarity 217, member B1
    71.43(n)1
    63.23(a)1
      2 (99.92 cM)5
    715321  NM_001081289.11  NP_001074758.11 
     1784145245 
    chicken
    (Gallus gallus)
    Aves C20H20ORF1771 chromosome 20 open reading frame, human C20orf177 59.89(n)
    49.68(a)
      419221  XM_004947080.1  XP_004947137.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM217B6
    family with sequence similarity 217, member B
    43(a)
    1 ↔ 1
    4(148100053-148109780)
    zebrafish
    (Danio rerio)
    Actinopterygii FAM217B (2 of 2)6
    fam217b6
    family with sequence similarity 217, member B
    17(a)
    17(a)
    many → 1
    many → 1
    11(1369013-1374508) ENSDARG00000091799
    23(12256800-12264913) ENSDARG00000088505


    ENSEMBL Gene Tree for FAM217B (if available)
    TreeFam Gene Tree for FAM217B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM217B gene
    1 SIMAP similar gene for FAM217B using alignment to 2 protein entries:     F217B_HUMAN (see all proteins):
    C20orf177

    Find genes that share paralogs with FAM217B           About GenesLikeMe



    (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 FAM217B (see all 213)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356914
    A breast cancer sample4--see VAR_0356912 S G mis40--------
    rs1421916071,2
    C,Funtested158519187(+) CCACTC/TGGTTC 5 L syn1 int11Minor allele frequency- T:0.00NA 4516
    rs1393766491,2
    --55294089(+) CTACTG/TTTGCA 1 -- us2k10--------
    rs1500298621,2
    --55294104(+) GTCAGC/TTGGGG 1 -- us2k10--------
    rs1909891851,2
    --58509324(+) CAACTA/GTGTAT 1 -- int10--------
    rs797345591,2
    C,F--58509442(+) AAAGGG/ATCTCC 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1812332091,2
    --58509451(+) CCTTGA/CCCCTT 1 -- int10--------
    rs778806721,2
    C,F--58509461(+) TGGCTC/GGCAGA 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1850388141,2
    C--58509494(+) GTCTTC/TTGCGT 1 -- int10--------
    rs1421790611,2
    C--58509505(+) GTTTT-/CCCCGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for FAM217B (58508819 - 58523735 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FAM217B: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM217B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM217B

    (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.)
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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 FAM217B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM217B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 63939 HGNC: 16170 AceView: C20orf177 Ensembl:ENSG00000196227 euGenes: HUgn63939
    ECgene: FAM217B H-InvDB: FAM217B

    (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 FAM217B 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 FAM217B gene:
    Search GeneIP for patents involving FAM217B

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 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 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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