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

FMR1NB Gene

protein-coding   GIFtS: 44
GCID: GC0XP147062

Fragile X Mental Retardation 1 Neighbor

  See related diseases
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
Fragile X Mental Retardation 1 Neighbor1 2     NY-SAR-352
Cancer/Testis Antigen 371 2 3     NYSAR352
Sarcoma Antigen NY-SAR-352 3     Fragile X Mental Retardation 1 Neighbor Protein2
CT372 3     

External Ids:    HGNC: 263721   Entrez Gene: 1585212   Ensembl: ENSG000001769887   UniProtKB: Q8N0W73   

Export aliases for FMR1NB gene to outside databases

Previous GC identifers: GC00U914342 GC0XP145731 GC0XP146768 GC0XP146870 GC0XP136023


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

GeneCards Summary for FMR1NB Gene: 
FMR1NB (fragile X mental retardation 1 neighbor) is a protein-coding gene. Diseases associated with FMR1NB include dyslexia, and sarcoma.


(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_011681.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FMR1NB
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFMR1NB promoter sequence
   Search SABiosciences Chromatin IP Primers for FMR1NB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FMR1NB


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq27.3   HGNC cytogenetic band: Xq28

FMR1NB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FMR1NB gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP147062:  view genomic region     (about GC identifiers)

Start:
147,062,849 bp from pter      End:
147,108,187 bp from pter
Size:
45,339 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: FMR1N_HUMAN, Q8N0W7 (See protein sequence)
Recommended Name: Fragile X mental retardation 1 neighbor protein  
Size: 255 amino acids; 29241 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: D3DWT3

Explore the universe of human proteins at neXtProt for FMR1NB: NX_Q8N0W7

Explore proteomics data for FMR1NB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N0W7

  • FMR1NB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FMR1NB Protein Expression
    REFSEQ proteins: NP_689791.1  
    ENSEMBL proteins: 
     ENSP00000359498   ENSP00000435769  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0016021integral to membrane IEA--

    FMR1NB for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q8N0W7

    1 Blocks protein domain: IPB000519 P-type trefoil domain

    UniProtKB/Swiss-Prot: FMR1N_HUMAN, Q8N0W7
    Similarity: Contains 1 P-type (trefoil) domain


    (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

    Phenotypes:
         2 GenomeRNAi human phenotypes for FMR1NB:
     Decreased viability with pacli  Synthetic lethal with Ras 

    Animal Models:
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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 FMR1NB

    (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 FMR1NB (FMR1N)

    Search CenterWatch for drugs/clinical trials and news about FMR1NB / FMR1N

    (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 FMR1NB gene: 
    NM_152578.2  

    Unigene Cluster for FMR1NB:

    Fragile X mental retardation 1 neighbor
    Hs.128580  [show with all ESTs]
    Unigene Representative Sequence: BC034320
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370467(uc004fcm.3) ENST00000489034
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FMR1NB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FMR1NB

    Additional mRNA sequence: 

    AK098602.1 AY211917.1 BC034320.1 

    2 DOTS entries:

    DT.100018331  DT.203416 

    11 AceView cDNA sequences:

    AY211917 AK098602 BX098898 AW593050 BP370444 BG771667 AA906131 NM_152578 
    BC034320 AA909915 BI465380 

    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

    FMR1NB expression in normal human tissues (normalized intensities)      FMR1NB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FMR1NB Expression
    About this image


    FMR1NB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
             testis ; cells in seminiferus ducts   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             XX Germ Cells Ovigerous Cord
             Ovigerous Cord
     
     Gonad
             XY Germ Cells Testis Cord
     
     Placenta (Extraembryonic Tissues)

    See FMR1NB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FMR1NB

    SOURCE GeneReport for Unigene cluster: Hs.128580

    UniProtKB/Swiss-Prot: FMR1N_HUMAN, Q8N0W7
    Tissue specificity: Testis-specific. Expressed in melanoma, sarcoma, lung, breast, bladder, esophageal and ovarian
    cancers

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FMR1NB

    (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 FMR1NB gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fmr1nb1 , 5 fragile X mental retardation 1 neighbor1, 5 56.85(n)1
    39.72(a)1
      X (34.86 cM)5
    2078541  NM_174993.21  NP_778158.21 
     687618395 
    chicken
    (Gallus gallus)
    Aves FMR1NB6
    fragile X mental retardation 1 neighbor
    28(a)
    1 ↔ 1
    4(18607592-18625217)


    ENSEMBL Gene Tree for FMR1NB (if available)
    TreeFam Gene Tree for FMR1NB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/756 SNPs in FMR1NB are shown (see all 756)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1512697591,2
    --147013471(+) CTTGCA/GTCTTC 1 -- us2k10--------
    rs1895963391,2
    --147013476(+) ATCTTC/TTGCCA 1 -- us2k10--------
    rs1807193671,2
    --147013555(+) CTCCTC/GACAGT 1 -- us2k10--------
    rs1861234131,2
    --147013681(+) AAAGTA/GGGTTC 1 -- us2k10--------
    rs1922819571,2
    --147013776(+) TTTCAA/GGAATT 1 -- us2k10--------
    rs173129511,2
    C,F,H--147013844(+) AATAAC/GAATAG 1 -- us2k117Minor allele frequency- N:0.00NA EA NS WA CSA 1062
    rs1820137501,2
    --147013911(+) ATGCAC/GTTGGG 1 -- us2k10--------
    rs1860349791,2
    --147014259(+) AACTCA/GGTTTT 1 -- us2k10--------
    rs64184871,2
    C,F,A,H--147014416(+) CAGCCG/AGACAC 1 -- us2k1 tfbs317Minor allele frequency- A:0.41NS EA NA WA CSA 1978
    rs66262891,2
    C,A--147014487(+) TCAGGG/AGTTCG 1 -- us2k1 tfbs31Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for FMR1NB (147062849 - 147108187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FMR1NB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2741031CNV Deletion23290073
    esv2122565CNV Deletion18987734
    esv2740586CNV Deletion23290073
    nsv513626CNV Insertion21212237
    dgv2489e1CNV Complex17122850


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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.)
    About This Section
    6 diseases for FMR1NB:    About MalaCards
    dyslexia    sarcoma    mental retardation    ovarian cancer
    esophagitis    melanoma

    1 disease from the University of Copenhagen DISEASES database for FMR1NB:
    Dyslexia

    FMR1NB for disorders           About GeneDecksing


    Export disorders for FMR1NB gene to outside databases

    (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 FMR1NB gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FMR1NB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Immunomic analysis of human sarcoma. (PubMed id 12601173)1, 2, 3 Lee S.-Y.... Scanlan M.J. (2003)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Genetically distinct subsets within ANCA-associated va sculitis. (PubMed id 22808956)1 Lyons P.A....Smith K.G. (2012)
    5. Expression of the human cancer/testis antigen NY-SAR- 35 is activated by CpG island hypomethylation. (PubMed id 21318630)1 Park J.H....Lee S.Y. (2011)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    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. (2002)

    (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: 158521 HGNC: 26372 AceView: FMR1NB Ensembl:ENSG00000176988 euGenes: HUgn158521
    ECgene: FMR1NB H-InvDB: FMR1NB

    (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 FMR1NB 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 FMR1NB gene:
    Search GeneIP for patents involving FMR1NB

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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