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

BEND2 Gene

protein-coding   GIFtS: 45
GCID: GC0XM018091

BEN Domain Containing 2

(Previous name: chromosome X open reading frame 20)
(Previous symbol: CXorf20)
  Search for BEND2
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
BEN Domain Containing 21 2
CXorf201 2 3
Chromosome X Open Reading Frame 201
BEN Domain-Containing Protein 22

External Ids:    HGNC: 285091   Entrez Gene: 1391052   Ensembl: ENSG000001773247   UniProtKB: Q8NDZ03   

Export aliases for BEND2 gene to outside databases

Previous GC identifer: GC0XM015938


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

Entrez Gene summary for BEND2 Gene:
This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which
participate in protein and DNA interactions which occur during chromatin restructuring or transcription.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2011)

GeneCards Summary for BEND2 Gene: 
BEND2 (BEN domain containing 2) is a protein-coding 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 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_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BEND2 gene promoter:
         HFH-3   ISGF-3   Cdc5   C/EBPalpha   Evi-1   FOXI1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBEND2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BEND2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEND2


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

Entrez Gene cytogenetic band: Xp22.13   Ensembl cytogenetic band:  Xp22.13   HGNC cytogenetic band: Xp22.22

BEND2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BEND2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM018091:  view genomic region     (about GC identifiers)

Start:
18,181,051 bp from pter      End:
18,239,024 bp from pter
Size:
57,974 bases      Orientation:
minus 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: BEND2_HUMAN, Q8NDZ0 (See protein sequence)
Recommended Name: BEN domain-containing protein 2  
Size: 799 amino acids; 87919 Da
Secondary accessions: E9PFY2 Q4V9S2 Q5JXE5
Alternative splicing: 2 isoforms:  Q8NDZ0-1   Q8NDZ0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BEND2: NX_Q8NDZ0

Explore proteomics data for BEND2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NDZ0

  • BEND2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BEND2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001171696.1  NP_699177.2  

    ENSEMBL proteins: 
     ENSP00000369372   ENSP00000369369  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BEND: BEN domain containing

    1 InterPro protein domain:
     IPR018379 BEN_domain

    Graphical View of Domain Structure for InterPro Entry Q8NDZ0

    ProtoNet protein and cluster: Q8NDZ0

    UniProtKB/Swiss-Prot: BEND2_HUMAN, Q8NDZ0
    Similarity: Contains 2 BEN domains


    BEND2 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,
    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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BEND2 
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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 BEND2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BEND2 (Q8NDZ03 ENSP000003693724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542533, ENSP000002447694I2D: score=2 STRING: ENSP00000244769
    About this table

    (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 BEND2

    Search CenterWatch for drugs/clinical trials and news about BEND2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 BEND2 gene (2 alternative transcripts): 
    NM_001184767.1  NM_153346.4  

    Unigene Cluster for BEND2:

    BEN domain containing 2
    Hs.403802  [show with all ESTs]
    Unigene Representative Sequence: NM_153346
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380033(uc004cyj.4) ENST00000380030(uc010nfb.2)
    miRNA
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    hsa-miR-3135 hsa-miR-1283 hsa-miR-33a* hsa-miR-374c hsa-miR-548t hsa-miR-655 hsa-miR-494 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidBEND2 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BEND2 (NM_153346)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BEND2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEND2
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEND2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEND2

    Additional mRNA sequence: 

    AK128155.1 BC037301.2 BC096745.1 

    2 DOTS entries:

    DT.100008921  DT.121307457 

    1 AceView cDNA sequence:

    BX952865 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for BEND2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
    SP1:                                                
    SP2:                                                
    SP3:                                                


    ECgene alternative splicing isoforms for BEND2

    (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

    BEND2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGTGTGC
    BEND2 Expression
    About this image


    See BEND2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BEND2

    SOURCE GeneReport for Unigene cluster: Hs.403802
        SABiosciences Custom PCR Arrays for BEND2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEND2

    (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 BEND2 gene from 4/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia BEND26
    BEN domain containing 2
    34(a)
    1 ↔ 1
    X(14262841-14325177)
    chicken
    (Gallus gallus)
    Aves BEND26
    BEN domain containing 2
    32(a)
    1 ↔ 1
    1(120330721-120353700)
    lizard
    (Anolis carolinensis)
    Reptilia BEND26
    Uncharacterized protein
    42(a)
    1 ↔ 1
    3(122644788-122644985)
    zebrafish
    (Danio rerio)
    Actinopterygii BEND26
    BEN domain containing 2
    24(a)
    1 ↔ 1
    23(1052251-1066435)


    ENSEMBL Gene Tree for BEND2 (if available)
    TreeFam Gene Tree for BEND2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BEND2 gene
    6 SIMAP similar genes for BEND2 using alignment to 1 protein entry:     BEND2_HUMAN:
    AURA2    FAM175A    LINC00596    GLT8D2    NF2    DNAPTP3

    BEND2 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) 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

    10/807 SNPs in BEND2 are shown (see all 807)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1487875241,2
    --18094549(+) TTAATA/GTAAAC 1 -- int10--------
    rs1420651281,2
    C--18094599(+) TCATTA/CAAAGA 1 -- int10--------
    rs1904897111,2
    --18094614(+) CCTGAG/TCATCT 1 -- int10--------
    rs128418911,2
    C,F,H--18094651(+) TATTGT/GATCTA 1 -- ut316Minor allele frequency- G:0.00NS EA NA 422
    rs59559411,2
    H--18094871(+) TcttgA/Ggccca 1 -- ut31 ese34Minor allele frequency- G:0.00NS EA 418
    rs1830178001,2
    --18094882(+) GGAGTC/TCCAGA 1 -- ut310--------
    rs1873448241,2
    --18094886(+) TTCCAC/GATAAG 1 -- ut310--------
    rs1917081331,2
    --18095001(+) TTTTTA/TATAAA 1 -- ut310--------
    rs1829942251,2
    --18095008(+) TAAATA/CAGAGG 1 -- ut310--------
    rs1874877901,2
    --18095425(+) TCTTCC/TTGCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BEND2 (18181051 - 18239024 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BEND2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv510818CNV Loss20534489


    Human Gene Mutation Database (HGMD): BEND2

    Locus Specific Mutation Databases (LSDB): BEND2
    SABiosciences Cancer Mutation PCR Assays
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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

    BEND2 for disorders           About MalaCards

    BEND2 for disorders           About GeneDecksing


    Export disorders for BEND2 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 BEND2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with BEND2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. Epileptic encephalopathy in a girl with an interstiti al deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. (PubMed id 19455595)1 Bahi-Buisson N....Bienvenu T. (2010)
    6. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)

    (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: 139105 HGNC: 28509 AceView: CXorf20 Ensembl:ENSG00000177324 euGenes: HUgn139105
    ECgene: BEND2 H-InvDB: BEND2

    (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 BEND2 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 BEND2 gene:
    Search GeneIP for patents involving BEND2

    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: 3 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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