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BEND6 Gene

protein-coding   GIFtS: 40
GCID: GC06P056819

BEN Domain Containing 6

(Previous name: chromosome 6 open reading frame 65)
(Previous symbol: C6orf65)
  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
BEN Domain Containing 61 2
C6orf651 2 3
Chromosome 6 Open Reading Frame 651
bA203B9.12
BEN Domain-Containing Protein 62

External Ids:    HGNC: 208711   Entrez Gene: 2213362   Ensembl: ENSG000001519177   UniProtKB: Q5SZJ83   

Export aliases for BEND6 gene to outside databases

Previous GC identifers: GC06P056927 GC06P056653


(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 BEND6 Gene:
BEND6 (BEN domain containing 6) is a protein-coding gene. Diseases associated with BEND6 include cerebritis.


(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_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BEND6 gene promoter:
         USF1   Lmo2   CUTL1   YY1   c-Ets-1   S8   POU2F1   USF-1   POU2F1a   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBEND6 promoter sequence
   Search Chromatin IP Primers for BEND6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BEND6


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

Entrez Gene cytogenetic band: 6p12.1   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12.1

BEND6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BEND6 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P056819:  view genomic region     (about GC identifiers)

Start:
56,819,773 bp from pter      End:
56,892,144 bp from pter
Size:
72,372 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, 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/Swiss-Prot: BEND6_HUMAN, Q5SZJ8 (See protein sequence)
Recommended Name: BEN domain-containing protein 6  
Size: 279 amino acids; 31222 Da
Secondary accessions: Q4G0W8 Q8N662 Q96NS6
Alternative splicing: 4 isoforms:  Q5SZJ8-1   Q5SZJ8-2   Q5SZJ8-3   Q5SZJ8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BEND6: NX_Q5SZJ8

Explore proteomics data for BEND6 at MOPED


See BEND6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689944.2  
ENSEMBL proteins: 
 ENSP00000359782   ENSP00000359781   ENSP00000359786   ENSP00000359784   ENSP00000439320  

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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 Q5SZJ8

ProtoNet protein and cluster: Q5SZJ8

UniProtKB/Swiss-Prot: BEND6_HUMAN, Q5SZJ8
Similarity: Contains 1 BEN domain


BEND6 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 BEND6
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BEND6

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BEND6
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Selected qRT-PCR Assays for microRNAs that regulate BEND6 (see all 13):
hsa-miR-548p hsa-miR-361-5p hsa-miR-137 hsa-miR-548e hsa-miR-1301 hsa-miR-545 hsa-miR-29b-1* hsa-miR-519e*
SwitchGear 3'UTR luciferase reporter plasmidBEND6 3' UTR sequence
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEND6

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEND6


(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
cytosol2
endoplasmic reticulum1
golgi apparatus1

(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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SuperPaths for BEND6 About    
See pathways by source

SuperPathContained pathways About
1Notch Signaling Pathways
Notch Signaling Pathways

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 R&D Systems Pathway for BEND6
    Notch Signaling Pathways



    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BEND6
Interactions:

    Search GeneGlobe Interaction Network for BEND6

(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 BEND6



(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 BEND6 gene: 
NM_152731.2  

Unigene Cluster for BEND6:

BEN domain containing 6
Hs.582993  [show with all ESTs]
Unigene Representative Sequence: BC036119
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000370746 ENST00000370745 ENST00000484701 ENST00000370750(uc010kab.3)
ENST00000370748(uc003pdg.2) ENST00000545789(uc003pdi.4)
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate BEND6 (see all 13):
hsa-miR-548p hsa-miR-361-5p hsa-miR-137 hsa-miR-548e hsa-miR-1301 hsa-miR-545 hsa-miR-29b-1* hsa-miR-519e*
SwitchGear 3'UTR luciferase reporter plasmidBEND6 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat BEND6
Clone
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  QuantiFast Probe-based Assays in human, mouse, rat BEND6

Additional mRNA sequence: 

AK303705.1 AK315926.1 BC022988.1 BC036119.1 

7 DOTS entries:

DT.75198382  DT.410408  DT.99936789  DT.100752157  DT.101984225  DT.429617  DT.95139210 

Selected AceView cDNA sequences (see all 56):

N48613 AW594434 BC022988 BG819883 CB216049 BX282136 Z40606 NM_152731 
BC036119 BU627898 F13044 AI376203 AI933019 BQ028294 AI383997 AI803591 
BU684190 BI550924 H07984 F10637 BI916461 AA319680 BI913530 BI914970 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for BEND6    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1:                                                                              
SP2:                    -     -           -                                       
SP3:                                -     -     -                                 
SP4:                                                                              


ECgene alternative splicing isoforms for BEND6

(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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BEND6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTAAACTTG
BEND6 Expression
About this image


BEND6 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Brain (Nervous System)    fully expand to see all 10 entries
         Cerebral Cortex
         Midbrain   
BEND6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BEND6 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.582993
    Custom PCR Arrays for BEND6
Primer
Products:
OriGene qPCR primer pairs and template standards for BEND6
OriGene qSTAR qPCR primer pairs in human, mouse for BEND6
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QuantiFast Probe-based Assays in human, mouse, rat BEND6
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEND6

(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 BEND6 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bend61 , 5 BEN domain containing 61, 5 83.39(n)1
83.75(a)1
  1 (12.85 cM)5
3207051  NM_177235.31  NP_796209.21 
 338520525 
chicken
(Gallus gallus)
Aves BEND61 BEN domain containing 6 75.77(n)
75.28(a)
  775985  XM_004940456.1  XP_004940513.1 


ENSEMBL Gene Tree for BEND6 (if available)
TreeFam Gene Tree for BEND6 (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 BEND6 (see all 1294)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs581916471,2
F--56821912(+) TAACAA/CCAAAA 1 -- int11Minor allele frequency- C:0.04WA 118
rs1159142041,2
F--56821933(+) TAGCTA/GTTATG 1 -- int11Minor allele frequency- G:0.01WA 118
rs1922556341,2
--56822185(+) TCCATC/TGTTAT 1 -- int10--------
rs93677001,2
C,A--56822399(+) AATAAT/CTGACA 1 -- int14Minor allele frequency- C:0.10NA WA EA 360
rs93826701,2
C,F,A,H--56822618(+) ACCACG/ATATGT 1 -- int132Minor allele frequency- A:0.17EA NA NS WA 3398
rs1833822621,2
--56822621(+) ACGTAC/TGTAGA 1 -- int10--------
rs1467407671,2
C--56822953(+) TGTGTA/GAGCAA 1 -- int10--------
rs346169431,2
C,F--56822998(+) CATCAC/GTCCTG 1 -- int15Minor allele frequency- G:0.17NA 128
rs1403970791,2
--56823006(+) CTGCCC/TACTAA 1 -- int10--------
rs355534461,2
C,F--56823015(+) AATGGG/CTAGTA 1 -- int17Minor allele frequency- C:0.18NA WA EA 366

HapMap Linkage Disequilibrium report for BEND6 (56819773 - 56892144 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for BEND6: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing BEND6
DNA2.0 Custom Variant and Variant Library Synthesis for BEND6

(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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1 disease for BEND6:    
About MalaCards
cerebritis


BEND6 for disorders           About GeneDecksing


Export disorders for BEND6 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 BEND6 gene integrated from 10 sources:
(articles sorted by number of sources associating them with BEND6)
    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, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)
  4. 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: 221336 HGNC: 20871 AceView: C6orf65 Ensembl:ENSG00000151917 euGenes: HUgn221336
ECgene: BEND6 H-InvDB: BEND6

(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 BEND6 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 BEND6 gene:
Search GeneIP for patents involving BEND6

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse ESI BIO Cell Lines and PureStem Progenitors for BEND6
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEND6
 SwitchGear 3'UTR luciferase reporter plasmids for BEND6
 SwitchGear Promoter luciferase reporter plasmids for BEND6
 Search ThermoFisher Antibodies for BEND6
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEND6
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BEND6
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BEND6
 LSBio Antibodies in human, mouse, rat for BEND6
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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