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FMR1NB Gene

protein-coding   GIFtS: 43
GCID: GC0XP147062

Fragile X Mental Retardation 1 Neighbor

  See FMR1NB-related disease
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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FMR1NB Gene:
FMR1NB (fragile X mental retardation 1 neighbor) is a protein-coding gene. Diseases associated with FMR1NB include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FMR1NB
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFMR1NB promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
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UniProtKB/Swiss-Prot: FMR1N_HUMAN, Q8N0W7 (See protein sequence)
Recommended Name: Fragile X mental retardation 1 neighbor protein  
Size: 255 amino acids; 29241 Da
Secondary accessions: D3DWT3

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

Explore proteomics data for FMR1NB at MOPED


See FMR1NB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689791.1  
ENSEMBL proteins: 
 ENSP00000359498   ENSP00000435769  

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

Animal Models:
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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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Subcellular locations from UniProtKB/Swiss-Prot
FMR1N_HUMAN, Q8N0W7: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus4
plasma membrane3
mitochondrion1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

Find genes that share ontologies with FMR1NB           About GenesLikeMe


(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 FMR1NB
Interactions:

    Search GeneGlobe Interaction Network for FMR1NB

(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 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,
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 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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Additional mRNA sequence: 

AK098602.1 AY211917.1 BC034320.1 

2 DOTS entries:

DT.100018331  DT.203416 

11 AceView cDNA sequences:

AY211917 AK098602 BX098898 AA906131 BG771667 NM_152578 BP370444 AW593050 
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™, 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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FMR1NB expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 4) fully expand
 
 Ovary (Reproductive System)    fully expand to see all 2 entries
         XX Germ Cells Ovigerous Cord
         Ovigerous Cord
 
 Gonad
         XY Germ Cells Testis Cord
 
 Testis (Reproductive System)
         XY Germ Cells Testis Cord
 
 Placenta (Extraembryonic Tissues)
FMR1NB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FMR1NB Protein Expression

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
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(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 FMR1NB gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fmr1nb5 fragile X mental retardation 1 neighbor   --   X (34.86 cM) 68761839 
chicken
(Gallus gallus)
Aves FMR1NB1 fragile X mental retardation 1 neighbor 50.71(n)
36.43(a)
  101748316  XM_004940864.1  XP_004940921.1 


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)
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  --

(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 FMR1NB (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

Locus Specific Mutation Databases (LSDB): FMR1NB

Site Specific Mutation Identification with 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.)
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1 disease for FMR1NB:    
About MalaCards
sarcoma

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

Find genes that share disorders with FMR1NB           About GenesLikeMe


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)
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PubMed articles for FMR1NB gene integrated from 10 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Genome Res. 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Genetically distinct subsets within ANCA-associated vasculitis. (PubMed id 22808956)1 Lyons P.A....Smith K.G. (N. Engl. J. Med. 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. (Biotechnol. Lett. 2011)
  6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 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. (Genomics 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

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

(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 FMR1NB 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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
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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

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