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

FAM127B Gene

protein-coding   GIFtS: 38
GCID: GC0XM134184

family with sequence similarity 127, member B

  Search for FAM127B
in our new
 Human Malady Compendium 
Biological research products
for FAM127B
    

(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 127, Member B1 2     DKFZP564B1471
MAR8A1 2 3     Protein FAM127B2
CXX1b1 2     CXX1B3
Mammalian Retrotransposon Derived Protein 8A2 3     

External Ids:    HGNC: 245141   Entrez Gene: 260712   Ensembl: ENSG000002039507   UniProtKB: Q9BWD33   

Export aliases for FAM127B gene to outside databases

Previous GC identifer: GC0XM134014


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

  --

(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_000023.10  NC_018934.1  NT_011786.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM127B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM127B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM127B


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

Entrez Gene cytogenetic band: Xq26.3   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26.3

FAM127B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM127B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM134184:  view genomic region     (about GC identifiers)

Start:
134,184,962 bp from pter      End:
134,186,226 bp from pter
Size:
1,265 bases      Orientation:
minus 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: F127B_HUMAN, Q9BWD3 (See protein sequence)
Recommended Name: Protein FAM127B  
Size: 113 amino acids; 13188 Da
Secondary accessions: A2A2V9 Q8TBU2

Explore the universe of human proteins at neXtProt for FAM127B: NX_Q9BWD3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BWD3

  • FAM127B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001071640.1  NP_001127793.1  

    ENSEMBL proteins: 
     ENSP00000375267  

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    Uscn ELISAs and CLIAs for FAM127B


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

    ProtoNet protein and cluster: Q9BWD3

    UniProtKB/Swiss-Prot: F127B_HUMAN, Q9BWD3
    Similarity: Belongs to the FAM127 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

    miRNA
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    hsa-miR-196a hsa-miR-124 hsa-miR-330-5p hsa-miR-196b hsa-miR-326 hsa-miR-506
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FAM127B

    4 GenomeRNAi human phenotypes for FAM127B:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Elongated cells 


    (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 FAM127B

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for FAM127B (Q9BWD33 ENSP000003752674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=2 STRING: ENSP00000365576
    HSPB3Q129883I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    UBQLN2ENSP000003451954STRING: ENSP00000345195
    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 FAM127B
    Search CenterWatch for drugs/clinical trials and news about FAM127B / F127B 

    (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 FAM127B gene (3 alternative transcripts): 
    NM_015582.2  NM_001078172.1  NM_001134321.1  

    Unigene Cluster for FAM127B:

    Family with sequence similarity 127, member B
    Hs.460924  [show with all ESTs]
    Unigene Representative Sequence: NM_001078172
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000518153 ENST00000370775(uc004eyf.3) ENST00000520964(uc004eyg.4)
    ENST00000522309

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM127B:
    hsa-miR-196a hsa-miR-124 hsa-miR-330-5p hsa-miR-196b hsa-miR-326 hsa-miR-506
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    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 FAM127B (see all 4)
    OriGene shRNA RFP: FAM127B
    OriGene siRNA: FAM127B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM127B
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM127B (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM127B (see all 3)
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    GenScript: all cDNA clones in your preferred vector (see all 2): FAM127B (NM_001134321)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM127B 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM127B
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    Additional cDNA sequence: 

    AL117556.1 BC000393.2 BC008096.1 BC019300.1 BC071991.1 CR457123.1 CR542228.1 

    12 DOTS entries:

    DT.87078990  DT.121279037  DT.100790200  DT.121279048  DT.100038977  DT.100790203  DT.121279036  DT.87007687 
    DT.102844329  DT.95078660  DT.95078699  DT.95078661 

    24/37 AceView cDNA sequences (see all 37):

    AI536970 AI679644 BM691822 AI369299 BM845251 AW361511 BU728681 BU196125 
    BU729202 BM841478 BI765262 BV201889 BC071991 BM707626 BM841831 BM760076 
    BI093923 BG030673 N30279 CD248631 W87391 BM695958 CA396243 BM843996 

    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

    FAM127B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCGTGGACG

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

    About this image
    See FAM127B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM127B

    SOURCE GeneReport for Unigene cluster: Hs.460924
        SABiosciences Custom PCR Arrays for FAM127B
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM127B
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM127B
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FAM127B

    (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
      --

    ENSEMBL Gene Tree for FAM127B (if available)
    TreeFam Gene Tree for FAM127B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM127B gene
    RGAG42  FAM127C2  LDOC1L2  LDOC12  FAM127A2  
    5 SIMAP similar genes for FAM127B using alignment to 2 protein entries:     F127B_HUMAN (see all proteins):
    FAM127A    FAM127C    LDOC1    RTL1    PEG10

    FAM127B 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

    10/33 NCBI SNPs in FAM127B are shown (see all 33    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1864528311,2
    --134184700(+) TTTTGA/GCATTG 2 -- int10--------
    rs1922113591,2
    C,--134185378(+) ATGGCC/GATGGC 3 I M ut31 mis10--------
    rs1826690041,2
    --134185553(+) GGCTGA/GCAAAA 2 -- ut31 int10--------
    rs1877519531,2
    --134185591(+) GCGGCC/TCAGGA 2 -- int1 ut310--------
    rs2017218341,2
    C,--134185841(+) CATCTA/CGGCCA 3 E * int1 stg10--------
    rs24987761,2
    C,F,A,H,--134185997(+) GGAGCT/ACGTCT 4 /S /C mis1 ese311Minor allele frequency- A:0.24NS EA MN WA NA CSA 612
    rs1912369211,2
    --134186241(+) GACGGA/GCTGTG 2 -- us2k10--------
    rs22473431,2
    C,F,A,H,--134186309(-) ACTAGT/CGACCA 2 -- us2k116Minor allele frequency- C:0.44NS EA NA WA 1983
    rs1485646841,2
    --134186435(+) GCCAGC/TGGGGC 2 -- us2k10--------
    rs1825248531,2
    --134186479(+) AGCCTC/GTTGCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM127B (134184962 - 134186226 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM127B
         1 CNV: 0254

    SABiosciences Cancer Mutation PCR Assays
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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
      --

    (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 FAM127B gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with FAM127B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transposable elements as a source of genetic innovation: expression and evolution of a family of retrotransposon-derived neogenes in mammals. (PubMed id 15716091)1, 3 Brandt J.... Volff J.-N. (2005)
    2. A low-copy repeat in Xq26 represents a novel putatively prenylated protein gene (CXX1) and its pseudogenes (DXS9914, DXS9915, and DXS9916). (PubMed id 9403077)1, 3 Frattini A.... Vezzoni P. (1997)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes. (PubMed id 16093683)1 Brandt J....Volff J.N. (2005)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    10. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (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: 26071 HGNC: 24514 AceView: DKFZP564B147 Ensembl:ENSG00000203950 euGenes: HUgn26071
    ECgene: FAM127B H-InvDB: FAM127B

    (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 FAM127B 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 FAM127B gene:
    Search GeneIP for patents involving FAM127B

    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
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