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BEND2 Gene

protein-coding   GIFtS: 45
GCID: GC0XM018091

BEN Domain Containing 2

(Previous name: chromosome X open reading frame 20)
(Previous symbol: CXorf20)
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(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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 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  NT_167197.2  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for BEND2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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


See BEND2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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)
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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


Find genes that share domains with BEND2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for BEND2

miRNA
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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
nucleus3
cytoskeleton2
cytosol2

(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 BEND2
Interactions:

    Search GeneGlobe Interaction Network 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, 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 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,
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 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)
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SwitchGear 3'UTR luciferase reporter plasmidBEND2 3' UTR sequence
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  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™, 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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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

BEND2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BEND2 Protein Expression

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

 
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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 BEND2 gene from Selected 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
33(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
BEN domain containing 2
42(a)
1 ↔ 1
3(122644788-122644985)
zebrafish
(Danio rerio)
Actinopterygii BEND2 (1 of 2)6
BEND2 (2 of 2)6
BEN domain containing 2
22(a)
16(a)
many → 1
many → 1
23(1052251-1066435) ENSDARG00000058978
23(1043295-1052027) ENSDARG00000093496


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)
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Paralogs for BEND2 gene
6 SIMAP similar genes for BEND2 using alignment to 1 protein entry:     BEND2_HUMAN:
AURA2    FAM175A    LINC00596    GLT8D2    NF2    DNAPTP3

Find genes that share paralogs with BEND2           About GenesLikeMe



(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 BEND2 (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

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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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Find genes that share disorders with BEND2           About GenesLikeMe


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)
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PubMed articles for BEND2 gene integrated from 10 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. (Nature 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  5. Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. (PubMed id 19455595)1 Bahi-Buisson N....Bienvenu T. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 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. (Cell 2006)

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

(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 BEND2 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, 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
Advanced Cell Diagnostics, Animal models from genOway)
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 Browse ProSpec Recombinant Proteins
 Proteins for BEND2
 Antibodies for BEND2
 ELISAs for BEND2
 CLIAs for BEND2



 Browse ESI BIO Cell Lines and PureStem Progenitors for BEND2
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEND2
 SwitchGear 3'UTR luciferase reporter plasmids for BEND2
 SwitchGear Promoter luciferase reporter plasmids for BEND2
 ThermoFisher Antibodies for BEND2
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEND2
 Browse compounds at ApexBio
 Search Addgene for plasmids for BEND2
  Search eBioscience for proteins for BEND2
  Search eBioscience for elisas for BEND2
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for BEND2
 antibodies-online antibodies for BEND2 (20 products)
 antibodies-online kits for BEND2 (2 products)
 antibodies-online peptides for BEND2
 antibodies-online proteins for BEND2
       
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 , 7 Oct 2014

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