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FNBP4 Gene

protein-coding   GIFtS: 52
GCID: GC11M049910

Formin Binding Protein 4

  See 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
Formin Binding Protein 41 2
FBP302 3 5
Formin-Binding Protein 302 3
KIAA10143 5
Formin-Binding Protein 42

External Ids:    HGNC: 197521   Entrez Gene: 233602   Ensembl: ENSG000001099207   OMIM: 6152655   UniProtKB: Q8N3X13   

Export aliases for FNBP4 gene to outside databases

Previous GC identifers: GC11M048615 GC11M047769 GC11M047702 GC11M047694 GC11M047443 GC11M047805 GC11M048082 GC11M048805


(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 FNBP4 Gene:
FNBP4 (formin binding protein 4) is a protein-coding gene. Diseases associated with FNBP4 include anophthalmos with limb anomalies.

Gene Wiki entry for FNBP4 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:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FNBP4 gene promoter:
         FOXF2   CUTL1   HNF-4alpha2   HNF-4alpha1   HNF-1A   Evi-1   MZF-1   POU2F1   POU2F1a   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFNBP4 promoter sequence
   Search Chromatin IP Primers for FNBP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FNBP4


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11q12.1

FNBP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FNBP4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M049910:  view genomic region     (about GC identifiers)

Start:
47,738,069 bp from pter      End:
47,788,995 bp from pter
Size:
50,927 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FNBP4_HUMAN, Q8N3X1 (See protein sequence)
Recommended Name: Formin-binding protein 4  
Size: 1017 amino acids; 110266 Da
Subunit: Binds FMN1. Interacts with the Arg/Gly-rich-flanked Pro-rich of KHDRBS1/SAM68. Arginine methylation in
these regions has no effect on this binding
Sequence caution: Sequence=BAA76858.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q9H985 Q9NT81 Q9Y2L7
Alternative splicing: 2 isoforms:  Q8N3X1-1   Q8N3X1-2   

Explore the universe of human proteins at neXtProt for FNBP4: NX_Q8N3X1

Explore proteomics data for FNBP4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FNBP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056123.2  
    ENSEMBL proteins: 
     ENSP00000263773   ENSP00000440181  

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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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    1 InterPro protein domain:
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry Q8N3X1

    ProtoNet protein and cluster: Q8N3X1

    UniProtKB/Swiss-Prot: FNBP4_HUMAN, Q8N3X1
    Domain: These WW domains interact with Arg/Gly-rich-flanked Pro-rich domains found in several WW domain-binding
    proteins (WBPs). The N-terminal WW domain has the greater ligand-binding ability (By similarity)
    Similarity: Contains 2 WW domains


    FNBP4 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17500595
         
    FNBP4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FNBP4:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FNBP4
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FNBP4 (see all 30):
    hsa-miR-3164 hsa-miR-448 hsa-miR-300 hsa-miR-539 hsa-miR-4328 hsa-miR-429 hsa-miR-181c hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidFNBP4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FNBP4

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FNBP4

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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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    FNBP4 for ontologies           About GeneDecksing


    (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 FNBP4
    Interactions:

        Search GeneGlobe Interaction Network for FNBP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for FNBP4 (Q8N3X12, 3 ENSP000002637734) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KHDRBS1Q076662, 3, ENSP000003138294MINT-56720 MINT-56721 MINT-56725 MINT-56724 I2D: score=3 STRING: ENSP00000313829
    PRPF40AO754002, 3MINT-61853 I2D: score=3 
    FYNP062413, ENSP000003576564I2D: score=3 STRING: ENSP00000357656
    PLXNA2O750513, ENSP000003560004I2D: score=3 STRING: ENSP00000356000
    SYNJ1O434263, ENSP000003222344I2D: score=1 STRING: ENSP00000322234
    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 FNBP4



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FNBP4 gene: 
    NM_015308.2  

    Unigene Cluster for FNBP4:

    Formin binding protein 4
    Hs.6834  [show with all ESTs]
    Unigene Representative Sequence: AB023231
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263773(uc001ngj.3 uc009ylv.3 uc001ngl.2) ENST00000526109
    ENST00000532646 ENST00000530207 ENST00000525792 ENST00000531394 ENST00000525316
    ENST00000529156 ENST00000524696 ENST00000528388 ENST00000534003 ENST00000527894
    ENST00000544590 ENST00000533707 ENST00000540172 ENST00000542975
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FNBP4 (see all 30):
    hsa-miR-3164 hsa-miR-448 hsa-miR-300 hsa-miR-539 hsa-miR-4328 hsa-miR-429 hsa-miR-181c hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidFNBP4 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat FNBP4
      QuantiFast Probe-based Assays in human, mouse, rat FNBP4

    Additional mRNA sequence: 

    AB023231.2 AK022987.1 AK054636.1 AK123898.1 AL137480.1 BC006557.2 BC013266.1 BC037404.1 
    Z36787.1 

    17 DOTS entries:

    DT.215088  DT.70104897  DT.95108690  DT.85100937  DT.101965264  DT.92440178  DT.120735851  DT.92440176 
    DT.92440179  DT.40300411  DT.95108693  DT.95248408  DT.97771345  DT.95208663  DT.97791051  DT.99934636 
    DT.75127247 

    Selected AceView cDNA sequences (see all 314):

    BQ933179 AI377344 AI867753 AI356296 AW021434 AA313994 T95107 AA551858 
    N49573 BM968166 AI350150 BC013266 AA701275 BM832871 CA440752 AI804127 
    AA374510 AI685475 AI078757 BU634177 W57818 AA233931 AL137480 N33156 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FNBP4 (see all 18)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
    SP1:                                                                                                                          -     -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                  -                       -     -                           
    SP5:                                                                                                                          -     -                           

    ExUns: 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23
    SP1:  -     -     -     -           -                                                         
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:  -                                                                                       


    ECgene alternative splicing isoforms for FNBP4

    (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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    FNBP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTATAACAC
    FNBP4 Expression
    About this image


    FNBP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thyroid (Endocrine System)
    FNBP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FNBP4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.6834
        Custom PCR Arrays for FNBP4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FNBP4

    (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 FNBP4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fnbp41 , 5 formin binding protein 41, 5 83.81(n)1
    83.84(a)1
      2 (50.35 cM)5
    559351  NM_018828.21  NP_061298.11 
     907453705 
    chicken
    (Gallus gallus)
    Aves FNBP41 formin binding protein 4 65.12(n)
    66.74(a)
      426631  XM_424260.4  XP_424260.4 
    lizard
    (Anolis carolinensis)
    Reptilia FNBP46
    formin binding protein 4
    69(a)
    1 ↔ 1
    1(94056672-94082954)
    African clawed frog
    (Xenopus laevis)
    Amphibia fnbp4-prov2 formin binding protein 4 76.53(n)    BC056063.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.151542 Danio rerio, Similar to formin binding protein 4, clone more 75.46(n)    BC045354.1 


    ENSEMBL Gene Tree for FNBP4 (if available)
    TreeFam Gene Tree for FNBP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FNBP4 gene
    1 SIMAP similar gene for FNBP4 using alignment to 3 protein entries:     FNBP4_HUMAN (see all proteins):
    DKFZp779I1064

    FNBP4 for paralogs           About GeneDecksing



    (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 FNBP4 (see all 1119)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs21691251,2
    C--47738939(+) CAACAA/CACAAT 1 -- ut312Minor allele frequency- C:0.00NA 4
    rs775611681,2
    F--47738983(+) GTGTTA/TGGAGC 2 P syn10--------
    rs1864273651,2
    C--47739096(+) TAGTGC/GAAAGA 1 -- int10--------
    rs1170339051,2
    C,F--47739115(+) CAAAAG/ATATTC 1 -- int11Minor allele frequency- A:0.01EA 120
    rs1912427271,2
    --47739171(+) ATCACA/GTCTAT 1 -- int10--------
    rs1394392291,2
    C--47739174(+) ACGTC-/TATGTTT 1 -- int10--------
    rs791913251,2
    F--47739315(+) GACTGA/TTTGAG 1 -- int11Minor allele frequency- T:0.05EA 120
    rs1505225831,2
    --47739320(+) ATTGAC/GACGGA 1 -- int10--------
    rs1834935361,2
    --47739322(+) TGAGAC/TGGAAT 1 -- int10--------
    rs1394567751,2
    --47739323(+) GAGACA/GGAATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for FNBP4 (47738069 - 47788995 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FNBP4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676370CNV Deletion23128226
    nsv832143CNV Loss17160897
    nsv469858CNV Gain16826518

    Human Gene Mutation Database (HGMD): FNBP4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FNBP4
    DNA2.0 Custom Variant and Variant Library Synthesis for FNBP4

    (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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    OMIM gene information: 615265    OMIM disorders: --

    1 disease for FNBP4:    
    About MalaCards
    anophthalmos with limb anomalies


    FNBP4 for disorders           About GeneDecksing


    Export disorders for FNBP4 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 FNBP4 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with FNBP4)
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    1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Arginine methylation inhibits the binding of proline-rich ligands to Src homology 3, but not WW, domains. (PubMed id 10748127)1, 2 Bedford M.T.... Richard S. (J. Biol. Chem. 2000)
    4. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. (PubMed id 23703728)1 Kondo Y....Matsumoto N. (Am. J. Med. Genet. A 2013)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (PLoS ONE 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A bead-based approach for large-scale identification of in vitro kinase substrates. (PubMed id 22113938)1 Zhang M....Zou H. (Proteomics 2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    10. Comparative proteomic analysis identifies a role for SUMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (Sci Signal 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23360 HGNC: 19752 AceView: FNBP4 Ensembl:ENSG00000109920 euGenes: HUgn23360
    ECgene: FNBP4 H-InvDB: FNBP4

    (According to HUGE)
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    HUGE: KIAA1014

    (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 FNBP4 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 FNBP4 gene:
    Search GeneIP for patents involving FNBP4

    GeneCards and IP:
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