Aliases for BEND6 Gene

Aliases for BEND6 Gene

  • BEN Domain Containing 6 2 3 5
  • BEN Domain-Containing Protein 6 3 4
  • C6orf65 3 4
  • Chromosome 6 Open Reading Frame 65 2

External Ids for BEND6 Gene

Previous HGNC Symbols for BEND6 Gene

  • C6orf65

Previous GeneCards Identifiers for BEND6 Gene

  • GC06P056927
  • GC06P056819
  • GC06P056653

Summaries for BEND6 Gene

GeneCards Summary for BEND6 Gene

BEND6 (BEN Domain Containing 6) is a Protein Coding gene. Diseases associated with BEND6 include Carpenter Syndrome 1. Among its related pathways are Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot Summary for BEND6 Gene

  • Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis (PubMed:23571214).

Additional gene information for BEND6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BEND6 Gene

Genomics for BEND6 Gene

GeneHancer (GH) Regulatory Elements for BEND6 Gene

Promoters and enhancers for BEND6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J056952 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 550.5 -0.3 -285 3.4 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A TCF12 NRF1 POLR2G PHF8 BEND6 DST lnc-RAB23-10 KIAA1586
GH06J056904 Enhancer 1 Ensembl ENCODE 51.1 -50.2 -50228 1.3 CTCF REST RAD21 TRIM22 TEAD1 SMC3 ZBTB17 ZNF524 TRIM24 CEBPG BEND6 DST BAG2 ZNF451-AS1 lnc-RAB23-11 RF00026-940 RNU6-626P
GH06J057089 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.2 +136.2 136227 4.4 ZBTB40 ZNF217 ZSCAN5C NRF1 MYC POLR2G SP1 NCOR1 SIX5 PHB2 ZNF451 lnc-RAB23-8 BEND6 KIAA1586 piR-50443-318
GH06J056957 Enhancer 0.9 Ensembl ENCODE dbSUPER 48.5 +4.6 4618 3.2 JUND FOS CTCF FOSL2 JUN MAFK STAT3 PRDM6 NFE2L2 POLR2A BEND6 KIAA1586 piR-50437-576
GH06J056910 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 34.2 -41.4 -41374 5.6 NRF1 JUND ZNF510 WT1 ZBTB17 GATA3 JUN SPI1 TAL1 TCF12 BEND6 lnc-RAB23-11 RF00026-940 RNU6-626P DST
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEND6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEND6

Top Transcription factor binding sites by QIAGEN in the BEND6 gene promoter:
  • c-Ets-1
  • c-Myb
  • CUTL1
  • Lmo2
  • POU2F1
  • POU2F1a
  • S8
  • USF-1
  • USF1
  • YY1

Genomic Locations for BEND6 Gene

Genomic Locations for BEND6 Gene
chr6:56,954,975-57,027,652
(GRCh38/hg38)
Size:
72,678 bases
Orientation:
Plus strand
chr6:56,819,773-56,892,144
(GRCh37/hg19)
Size:
72,372 bases
Orientation:
Plus strand

Genomic View for BEND6 Gene

Genes around BEND6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEND6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEND6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEND6 Gene

Proteins for BEND6 Gene

  • Protein details for BEND6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SZJ8-BEND6_HUMAN
    Recommended name:
    BEN domain-containing protein 6
    Protein Accession:
    Q5SZJ8
    Secondary Accessions:
    • Q4G0W8
    • Q8N662
    • Q96NS6

    Protein attributes for BEND6 Gene

    Size:
    279 amino acids
    Molecular mass:
    31222 Da
    Quaternary structure:
    • Interacts (via BEN domain) with RBPJ.

    Alternative splice isoforms for BEND6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BEND6 Gene

Post-translational modifications for BEND6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BEND6 Gene

Domains & Families for BEND6 Gene

Gene Families for BEND6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BEND6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BEND6 Gene

GenScript: Design optimal peptide antigens:
  • BEN domain-containing protein 6 (BEND6_HUMAN)
genes like me logo Genes that share domains with BEND6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BEND6 Gene

Function for BEND6 Gene

Molecular function for BEND6 Gene

UniProtKB/Swiss-Prot Function:
Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis (PubMed:23571214).

Phenotypes From GWAS Catalog for BEND6 Gene

Gene Ontology (GO) - Molecular Function for BEND6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003714 transcription corepressor activity IGI 23571214
genes like me logo Genes that share ontologies with BEND6: view
genes like me logo Genes that share phenotypes with BEND6: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BEND6 Gene

Localization for BEND6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEND6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BEND6 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 2
cytoskeleton 1
cytosol 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BEND6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BEND6: view

Pathways & Interactions for BEND6 Gene

PathCards logo

SuperPathways for BEND6 Gene

genes like me logo Genes that share pathways with BEND6: view

Pathways by source for BEND6 Gene

1 R&D Systems pathway for BEND6 Gene

Interacting Proteins for BEND6 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000359782 Q5SZJ8-BEND6_HUMAN for BEND6 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for BEND6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0045666 positive regulation of neuron differentiation IEA --
GO:0045746 negative regulation of Notch signaling pathway IEA --
GO:1903507 negative regulation of nucleic acid-templated transcription IEA --
genes like me logo Genes that share ontologies with BEND6: view

No data available for SIGNOR curated interactions for BEND6 Gene

Drugs & Compounds for BEND6 Gene

No Compound Related Data Available

Transcripts for BEND6 Gene

mRNA/cDNA for BEND6 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BEND6 Gene

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

Relevant External Links for BEND6 Gene

GeneLoc Exon Structure for
BEND6

Expression for BEND6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BEND6 Gene

mRNA differential expression in normal tissues according to GTEx for BEND6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.9), Brain - Frontal Cortex (BA9) (x5.3), Brain - Cerebellum (x5.1), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEND6

SOURCE GeneReport for Unigene cluster for BEND6 Gene:

Hs.582993

Evidence on tissue expression from TISSUES for BEND6 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with BEND6: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BEND6 Gene

Orthologs for BEND6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BEND6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BEND6 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BEND6 31 30
  • 93.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BEND6 31 30
  • 87.93 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bend6 30
  • 84.09 (n)
mouse
(Mus musculus)
Mammalia Bend6 17 31 30
  • 83.39 (n)
oppossum
(Monodelphis domestica)
Mammalia BEND6 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves BEND6 31 30
  • 75.77 (n)
OneToOne
Species where no ortholog for BEND6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BEND6 Gene

ENSEMBL:
Gene Tree for BEND6 (if available)
TreeFam:
Gene Tree for BEND6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BEND6: view image

Paralogs for BEND6 Gene

No data available for Paralogs for BEND6 Gene

Variants for BEND6 Gene

Additional dbSNP identifiers (rs#s) for BEND6 Gene

Structural Variations from Database of Genomic Variants (DGV) for BEND6 Gene

Variant ID Type Subtype PubMed ID
dgv3319n106 CNV deletion 24896259
nsv1073562 CNV deletion 25765185
nsv970124 CNV duplication 23825009

Variation tolerance for BEND6 Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BEND6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BEND6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BEND6 Gene

Disorders for BEND6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BEND6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
carpenter syndrome 1
  • crpt1
- elite association - COSMIC cancer census association via MalaCards
Search BEND6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BEND6

genes like me logo Genes that share disorders with BEND6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BEND6 Gene

Publications for BEND6 Gene

  1. BEND6 is a nuclear antagonist of Notch signaling during self-renewal of neural stem cells. (PMID: 23571214) Dai Q … Lai EC (Development (Cambridge, England) 2013) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 4 54

Products for BEND6 Gene

Sources for BEND6 Gene