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FLJ22184 Gene

protein-coding   GIFtS: 28
GCID: GC19M007934

Putative Uncharacterized Protein FLJ22184


  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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 2

Aliases
Putative Uncharacterized Protein FLJ221842

External Ids:    Entrez Gene: 801642   Ensembl: ENSG000001832487   UniProtKB: F5H1R74   UniProtKB: M0QXB94   
ORGUL members:         

Export aliases for FLJ22184 gene to outside databases

Previous GC identifers: GC19M007892 GC19M008038 GC19M007830 GC19U900390 GC19M007604


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FLJ22184 Gene:
This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence.
Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding
variant at this locus is conserved between human and mouse. (provided by RefSeq, Oct 2013)

GeneCards Summary for FLJ22184 Gene:
FLJ22184 is a protein-coding gene. Diseases associated with FLJ22184 include wiskott-aldrich syndrome, and endotheliitis.




(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_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the FLJ22184 gene promoter:
         E2F-4   E2F-3a   c-Fos   E2F-5   AP-1   E2F-2   E47   E2F   E2F-1   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FLJ22184

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FLJ22184


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   

FLJ22184 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FLJ22184 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M007934:  view genomic region     (about GC identifiers)

Start:
7,933,605 bp from pter      End:
7,939,326 bp from pter
Size:
5,722 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, and/or Cloud-Clone Corp.)
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UniProtKB/TrEMBL: F5H1R7 (See protein sequence)
Recommended Name: Protein FLJ22184  
Size: 1346 amino acids; 132748 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

UniProtKB/TrEMBL: M0QXB9 (See protein sequence)

Recommended Name: Protein FLJ22184  
Size: 761 amino acids; 74727 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

Explore proteomics data for FLJ22184 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FLJ22184 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001177396.1  
    ENSEMBL proteins: 
     ENSP00000469043   ENSP00000438970  

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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:
     IPR027907 DUF4596

    Graphical View of Domain Structure for InterPro Entry F5H1R7
    Graphical View of Domain Structure for InterPro Entry M0QXB9

    ProtoNet protein and cluster: F5H1R7


    FLJ22184 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FLJ22184
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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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    (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 FLJ22184
    Interactions:

        Search GeneGlobe Interaction Network for FLJ22184

    (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 FLJ22184



    (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,
    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 FLJ22184 gene (2 alternative transcripts): 
    NM_001080403.1  NM_001190467.1  

    Unigene Cluster for FLJ22184:

    Putative uncharacterized protein FLJ22184
    Hs.288540  [show with all ESTs]
    Unigene Representative Sequence: NM_001190467
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000599142 ENST00000593356 ENST00000539422(uc010dvu.2)
    miRNA
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    Additional mRNA sequence: 

    AK025837.1 AK096643.1 AL442075.1 

    8 DOTS entries:

    DT.91691919  DT.92061784  DT.95192957  DT.100662772  DT.102822315  DT.91744823  DT.97801424  DT.97827122 

    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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    FLJ22184 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCTGCAA
    FLJ22184 Expression
    About this image


    FLJ22184 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
    FLJ22184 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FLJ22184 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.288540
        Custom PCR Arrays for FLJ22184
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLJ22184

    (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 FLJ22184 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0681571 , 5 cDNA sequence BC0681571, 5 67.83(n)1
    61.53(a)1
      8 (1.98 cM)5
    730721  NM_207203.21  NP_997086.21 
     42095435 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    1 ↔ 1
    2(119507061-119507342)


    ENSEMBL Gene Tree for FLJ22184 (if available)
    TreeFam Gene Tree for FLJ22184 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FLJ22184 gene

    FLJ22184 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FLJ22184
    PGOHUM00000259298


    (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 FLJ22184 (see all 99)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1893461261,2
    --7933259(+) GGGTTC/TCAGTC 1 -- ds50010--------
    rs1817648461,2
    --7933265(+) CAGTCC/GCTCCT 1 -- ds50010--------
    rs7944371,2
    C,F--7933305(-) TGTGCG/ACCCGA 1 -- ds50017Minor allele frequency- A:0.16NA WA CSA EA 365
    rs1854103911,2
    --7933385(+) ACACGG/TGGATG 1 -- ds50010--------
    rs587194801,2
    C,F--7933403(+) GGCACC/GAGATG 1 -- ds50015Minor allele frequency- G:0.07NA CSA WA EA 362
    rs1898957061,2
    --7933678(+) GGGCGG/TGACTC 1 -- ut310--------
    rs1132136251,2
    C,F--7933748(+) AAGCTG/ATGGGT 1 -- ut311Minor allele frequency- A:0.37EA 120
    rs735000861,2
    C,F--7933770(+) CTCCGA/GGGCCA 1 -- ut312Minor allele frequency- G:0.10WA NA 238
    rs1996262631,2
    C--7934076(+) GTGCAA/GCCCGG 2 A V mis10--------
    rs1815869721,2
    --7934192(+) TGCACA/GACGCT 2 V syn10--------

    HapMap Linkage Disequilibrium report for FLJ22184 (7933605 - 7939326 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FLJ22184 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718113CNV Deletion23290073
    dgv544e201CNV Deletion23290073
    esv1656337CNV Deletion17803354
    esv2718112CNV Deletion23290073
    nsv910986CNV Loss21882294
    nsv910984CNV Loss21882294
    dgv3715n71CNV Loss21882294
    nsv910985CNV Loss21882294
    nsv138067CNV Loss16902084
    dgv3716n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FLJ22184
    DNA2.0 Custom Variant and Variant Library Synthesis for FLJ22184

    (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.)
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    2 diseases for FLJ22184:    
    About MalaCards
    wiskott-aldrich syndrome    endotheliitis


    FLJ22184 for disorders           About GeneDecksing


    Export disorders for FLJ22184 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 FLJ22184 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FLJ22184)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. 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: 80164 Ensembl:ENSG00000183248 euGenes: HUgn80164

    (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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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FLJ22184 gene:
    Search GeneIP for patents involving FLJ22184

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLJ22184
     Browse SwitchGear 3'UTR luciferase reporter plasmids for FLJ22184
     Browse SwitchGear Promoter luciferase reporter plasmids for FLJ22184
     Search ThermoFisher Antibodies for FLJ22184
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLJ22184
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FLJ22184
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FLJ22184
     Search LSBio for Antibodies for FLJ22184
    Customized transgenic rodents for:
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