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

FMR1NB Gene

protein-coding   GIFtS: 43
GCID: GC0XP147062

fragile X mental retardation 1 neighbor
 Explore 4 diseases affiliated with
FMR1NB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FMR1NB    

Aliases
for FMR1NB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fragile X Mental Retardation 1 Neighbor1 2     Sarcoma Antigen NY-SAR-352 3
CT371 2 3     FLJ257361
NY-SAR-351 2     NYSAR352
Cancer/Testis Antigen 372 3     Fragile X Mental Retardation 1 Neighbor Protein2

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


Summaries
for FMR1NB gene

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

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

SwitchGear Promoter luciferase reporter plasmid: FMR1NB 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

Proteins
for FMR1NB gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N0W7

    • FMR1NB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689791.1  
    ENSEMBL proteins: 
     ENSP00000359498   ENSP00000435769  

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    Uscn Proteins for FMR1NB

    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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    Protein Domains /
    Families
    for FMR1NB gene

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

    ProtoNet protein and cluster: Q8N0W7

    1 Blocks protein family: IPB000519 P-type trefoil domain

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


    Function
    for FMR1NB gene

    (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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    Inhib. RNA
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    2 GenomeRNAi human phenotypes for FMR1NB:
     Decreased viability with pacli  Synthetic lethal with Ras 


    Pathways & Interactions
    for FMR1NB gene

    (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 FMR1NB

    Drugs & Compounds
    for FMR1NB gene

    (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
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    Browse Tocris compounds for FMR1NB
    Search CenterWatch for drugs/clinical trials and news about FMR1NB / FMR1N 

    Transcripts
    for FMR1NB gene

    (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,
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    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

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    Inhib. RNA
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    Clone
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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 cDNA sequence: 

    AK098602.1 AY211917.1 BC034320.1 

    2 DOTS entries:

    DT.100018331  DT.203416 

    11 AceView cDNA sequences:

    AK098602 AY211917 BX098898 NM_152578 BC034320 BG771667 AA906131 BP370444 
    AW593050 AA909915 BI465380 

    GeneLoc Exon Structure


    Expression
    for FMR1NB gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    FMR1NB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryOvigerous CordXX Germ CellsFemale Gametocytes, Germ Cells
    OvaryOvigerous CordOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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:     
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    Orthologs
    for FMR1NB gene

    (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 human and mouse.

    Orthologs for FMR1NB gene from 1/7 species (see all 7)    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 


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

    Paralogs
    for FMR1NB gene

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

    Genomic Variants
    for FMR1NB gene

    (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

    10/628 NCBI SNPs in FMR1NB are shown (see all 628)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1512697591,2
    		--147060961(+) CTTGCA/GTCTTC 1 -- us2k10--------
    rs1895963391,2
    		--147060966(+) ATCTTC/TTGCCA 1 -- us2k10--------
    rs1807193671,2
    		--147061045(+) CTCCTC/GACAGT 1 -- us2k10--------
    rs1861234131,2
    		--147061171(+) AAAGTA/GGGTTC 1 -- us2k10--------
    rs1922819571,2
    		--147061266(+) TTTCAA/GGAATT 1 -- us2k10--------
    rs173129511,2
    		C,F,H,--147061334(+) AATAAC/GAATAG 1 -- us2k117Minor allele frequency- N:0.00NA EA NS WA CSA 1062
    rs1820137501,2
    		--147061401(+) ATGCAC/GTTGGG 1 -- us2k10--------
    rs1860349791,2
    		--147061749(+) AACTCA/GGTTTT 1 -- us2k10--------
    rs64184871,2
    		C,F,A,H,--147061906(+) CAGCCG/AGACAC 1 -- us2k1 tfbs317Minor allele frequency- A:0.41NS EA NA WA CSA 1978
    rs66262891,2
    		C,A,--147061977(+) TCAGGG/AGTTCG 1 -- us2k1 tfbs31Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for FMR1NB (147062849 - 147108187 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FMR1NB
         1 CNV: 3272
         1 Indel: 47781
    Locus Specific Mutation Databases (LSDB): FMR1NB

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    Disorders / Diseases
    for FMR1NB gene

    (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
    FMR1NB for disorders           About GeneDecksing

    4 diseases for FMR1NB:    About MalaCards
    sarcoma    ovarian cancer    esophagitis    melanoma

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

    Export disorders for FMR1NB gene to outside databases

    Publications
    for FMR1NB gene

    (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)

    External Searches for FMR1NB gene

    (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)

    Genome Databases showing FMR1NB gene

    (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

    Other Databases showing FMR1NB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FMR1NB gene

    (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

    Intellectual Property
    for FMR1NB gene

    (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



    Products
    for FMR1NB gene

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    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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    von Willebrand factor
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