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] See more...

Aliases for BEND2 Gene

Aliases for BEND2 Gene

  • BEN Domain Containing 2 2 3 5
  • BEN Domain-Containing Protein 2 3 4
  • CXorf20 3 4
  • Chromosome X Open Reading Frame 20 2
  • MGC33653 2
  • BEND2 5

External Ids for BEND2 Gene

Previous HGNC Symbols for BEND2 Gene

  • CXorf20

Previous GeneCards Identifiers for BEND2 Gene

  • GC0XM018091
  • GC0XM015938

Summaries for BEND2 Gene

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. Diseases associated with BEND2 include Astroblastoma. An important paralog of this gene is SELENON.

Additional gene information for BEND2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BEND2 Gene

Genomics for BEND2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BEND2 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
GH0XJ018220 Promoter 0.3 EPDnew 600.7 -0.1 -53 0.1 BEND2 lnc-BEND2-3 SCML2
GH0XJ018353 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.1 -133.6 -133597 2.6 RNF2 ZIC2 RBFOX2 POLR2A PATZ1 NR2C1 CTCF YY1 SOX6 GATAD2B SCML2 lnc-CDKL5-1 RF00017-8189 RF00017-8188 BEND2
GH0XJ018212 Enhancer 0.3 Ensembl 0.4 +8.2 8203 1 SPI1 RF00017-8186 BEND2 RAI2
GH0XJ018098 Enhancer 0.8 ENCODE 0.1 +121.4 121375 1.5 CREB1 ZNF629 TARDBP ZIC2 GTF2F1 ZNF341 ATF7 ARNT HES1 ZBTB20 LINC01456 piR-52368-174 piR-33422-465 BEND2 RAI2
GH0XJ018103 Promoter 0.7 EPDnew Ensembl 0.1 +116.8 116803 1.8 LINC01456 piR-52368-174 piR-57176-670 SCML1 piR-33422-465 BEND2 RAI2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEND2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEND2

Top Transcription factor binding sites by QIAGEN in the BEND2 gene promoter:
  • C/EBPalpha
  • Cdc5
  • Evi-1
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • ISGF-3

Genomic Locations for BEND2 Gene

Genomic Locations for BEND2 Gene
chrX:18,162,931-18,220,904
(GRCh38/hg38)
Size:
57,974 bases
Orientation:
Minus strand
chrX:18,181,051-18,239,024
(GRCh37/hg19)
Size:
57,974 bases
Orientation:
Minus strand

Genomic View for BEND2 Gene

Genes around BEND2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEND2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEND2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEND2 Gene

Proteins for BEND2 Gene

  • Protein details for BEND2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDZ0-BEND2_HUMAN
    Recommended name:
    BEN domain-containing protein 2
    Protein Accession:
    Q8NDZ0
    Secondary Accessions:
    • E9PFY2
    • Q4V9S2
    • Q5JXE5

    Protein attributes for BEND2 Gene

    Size:
    799 amino acids
    Molecular mass:
    87919 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BEND2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BEND2 Gene

Post-translational modifications for BEND2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BEND2 Gene

No data available for DME Specific Peptides for BEND2 Gene

Domains & Families for BEND2 Gene

Gene Families for BEND2 Gene

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

Protein Domains for BEND2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BEND2 Gene

GenScript: Design optimal peptide antigens:
  • BEN domain-containing protein 2 (BEND2_HUMAN)
  • BEND2 protein (Q4V9S2_HUMAN)
genes like me logo Genes that share domains with BEND2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BEND2 Gene

Function for BEND2 Gene

Phenotypes From GWAS Catalog for BEND2 Gene

genes like me logo Genes that share phenotypes with BEND2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEND2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BEND2 Gene

Localization for BEND2 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 BEND2 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for BEND2 Gene

Pathways & Interactions for BEND2 Gene

PathCards logo

SuperPathways for BEND2 Gene

No Data Available

Interacting Proteins for BEND2 Gene

Gene Ontology (GO) - Biological Process for BEND2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BEND2 Gene

Drugs & Compounds for BEND2 Gene

No Compound Related Data Available

Transcripts for BEND2 Gene

mRNA/cDNA for BEND2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEND2

Alternative Splicing Database (ASD) splice patterns (SP) for BEND2 Gene

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

Relevant External Links for BEND2 Gene

GeneLoc Exon Structure for
BEND2

Expression for BEND2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BEND2 Gene

mRNA differential expression in normal tissues according to GTEx for BEND2 Gene

This gene is overexpressed in Testis (x35.8) and Whole Blood (x10.2).

Protein differential expression in normal tissues from HIPED for BEND2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BEND2 Gene



Protein tissue co-expression partners for BEND2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEND2

SOURCE GeneReport for Unigene cluster for BEND2 Gene:

Hs.403802
genes like me logo Genes that share expression patterns with BEND2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BEND2 Gene

Orthologs for BEND2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BEND2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BEND2 30 31
  • 95.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BEND2 31
  • 44 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BEND2 31
  • 33 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BEND2 31
  • 30 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BEND2 31
  • 32 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BEND2 31
  • 42 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii BEND2 (1 of 2) 31
  • 22 (a)
OneToMany
BEND2 (2 of 2) 31
  • 16 (a)
OneToMany
Species where no ortholog for BEND2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for BEND2 Gene

ENSEMBL:
Gene Tree for BEND2 (if available)
TreeFam:
Gene Tree for BEND2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BEND2: view image

Paralogs for BEND2 Gene

Paralogs for BEND2 Gene

(6) SIMAP similar genes for BEND2 Gene using alignment to 1 proteins:

  • BEND2_HUMAN
genes like me logo Genes that share paralogs with BEND2: view

Variants for BEND2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BEND2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
783905 Benign: not provided 18,165,057(-) C/T SYNONYMOUS_VARIANT
783906 Benign: not provided 18,203,626(-) A/C MISSENSE_VARIANT
783907 Benign: not provided 18,203,860(-) C/A MISSENSE_VARIANT
786703 Benign: not provided 18,175,985(-) C/A MISSENSE_VARIANT
786704 Benign: not provided 18,203,814(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BEND2 Gene

Structural Variations from Database of Genomic Variants (DGV) for BEND2 Gene

Variant ID Type Subtype PubMed ID
dgv2230e212 CNV loss 25503493
dgv2231e212 CNV gain 25503493
esv3573621 CNV loss 25503493
esv3573622 CNV loss 25503493
esv3573624 CNV loss 25503493
nsv510818 CNV deletion 20534489

Variation tolerance for BEND2 Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BEND2 Gene

Human Gene Mutation Database (HGMD)
BEND2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BEND2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEND2 Gene

Disorders for BEND2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BEND2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
astroblastoma
  • cerebral astroblastoma
- elite association - COSMIC cancer census association via MalaCards
Search BEND2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with BEND2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BEND2 Gene

Publications for BEND2 Gene

  1. The ten-year evolutionary trajectory of a highly recurrent paediatric high grade neuroepithelial tumour with MN1:BEND2 fusion. (PMID: 29348602) Burford A … Jones C (Scientific reports 2018) 2 3
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  3. 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) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3

Products for BEND2 Gene

Sources for BEND2 Gene