Aliases for BEX3 Gene

Aliases for BEX3 Gene

  • Brain Expressed X-Linked 3 2 3 5
  • DXS6984E 2 3 4
  • NADE 2 3 4
  • Nerve Growth Factor Receptor (TNFRSF16) Associated Protein 1 2 3
  • Ovarian Granulosa Cell 13.0 KDa Protein HGR74 3 4
  • P75NTR-Associated Cell Death Executor 3 4
  • Brain-Expressed X-Linked Protein 3 3 4
  • Protein BEX3 3 4
  • NGFRAP1 3 4
  • HGR74 2 3
  • Bex 2 3
  • Nerve Growth Factor Receptor-Associated Protein 1 4
  • BEX3 5

External Ids for BEX3 Gene

Previous HGNC Symbols for BEX3 Gene

  • NGFRAP1

Summaries for BEX3 Gene

GeneCards Summary for BEX3 Gene

BEX3 (Brain Expressed X-Linked 3) is a Protein Coding gene. Diseases associated with BEX3 include Gaucher Disease, Type I. Among its related pathways are Signaling by GPCR and Apoptosis Modulation and Signaling. An important paralog of this gene is BEX5.

UniProtKB/Swiss-Prot Summary for BEX3 Gene

  • May be a signaling adapter molecule involved in p75NTR-mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death (By similarity). May play an important role in the pathogenesis of neurogenetic diseases.

Gene Wiki entry for BEX3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BEX3 Gene

Genomics for BEX3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BEX3 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
GH0XJ103375 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 254.7 +0.9 878 2.8 ZNF600 ATF2 POLR2A ZIC2 ZBTB10 YY1 ZNF341 SP2 USF2 SIN3A BEX3 BEX4 HSALNG0139301 lnc-BEX3-1 HSALNG0139296 RAB40A
GH0XJ103376 Promoter 0.4 EPDnew 250.7 -0.6 -603 0.1 ZNF121 BEX3 TCEAL9 HSALNG0139300 HSALNG0139296 lnc-BEX3-1
GH0XJ103403 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 17.9 +28.8 28775 2.2 ZNF600 ZNF592 ATF2 POLR2A YY1 SMAD5 MNT SIN3A ELF1 HCFC1 ENSG00000281091 LL0XNC01-250H12.3 piR-38580-417 BEX4 BEX3 TCEAL5 piR-44217 RAB40A
GH0XJ103438 Enhancer 0.8 Ensembl ENCODE 13.1 +65.4 65378 5.8 IKZF1 TAL1 ZNF316 NFE2 MAFG ZNF547 TCF12 TEAD4 ARID1B ZFX BEX4 BEX3 ENSG00000234405 ENSG00000224692 TCEAL8 RAB40A HSALNG0139305 piR-56883-210 LL0XNC01-250H12.3 ENSG00000281091
GH0XJ103233 Enhancer 0.8 Ensembl 12.4 -142.8 -142776 0.7 MYC NCOR1 IKZF1 NFIC HES1 MBD2 TAF9B NBN TAL1 STAT5A BEX4 BEX3 HSALNG0139293 TCEAL8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEX3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEX3

Genomic Locations for BEX3 Gene

Latest Assembly
chrX:103,376,323-103,378,164
(GRCh38/hg38)
Size:
1,842 bases
Orientation:
Plus strand

Previous Assembly
chrX:102,631,251-102,633,092
(GRCh37/hg19 by Entrez Gene)
Size:
1,842 bases
Orientation:
Plus strand

chrX:102,631,268-102,633,005
(GRCh37/hg19 by Ensembl)
Size:
1,738 bases
Orientation:
Plus strand

Genomic View for BEX3 Gene

Genes around BEX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEX3 Gene

Proteins for BEX3 Gene

  • Protein details for BEX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00994-BEX3_HUMAN
    Recommended name:
    Protein BEX3
    Protein Accession:
    Q00994
    Secondary Accessions:
    • B2RD17
    • D3DXA3
    • Q5JQT4
    • Q5JQT5

    Protein attributes for BEX3 Gene

    Size:
    111 amino acids
    Molecular mass:
    12959 Da
    Quaternary structure:
    • Self-associates. Binds to the DEATH domain of p75NTR/NGFR. Interacts with 14-3-3 epsilon (YWHAE). Interacts with DIABLO/SMAC.
    Miscellaneous:
    • Binds transition metals.

    Three dimensional structures from OCA and Proteopedia for BEX3 Gene

    Alternative splice isoforms for BEX3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BEX3 Gene

Post-translational modifications for BEX3 Gene

  • Ubiquitinated. Degraded by the proteasome (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BEX3 Gene

No data available for DME Specific Peptides for BEX3 Gene

Domains & Families for BEX3 Gene

Gene Families for BEX3 Gene

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

Protein Domains for BEX3 Gene

InterPro:

Suggested Antigen Peptide Sequences for BEX3 Gene

GenScript: Design optimal peptide antigens:
  • p75NTR-associated cell death executor (BEX3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00994

UniProtKB/Swiss-Prot:

BEX3_HUMAN :
  • The nuclear export signal is required for export from the nucleus and the interactions with itself and p75NTR/NGFR.
  • Belongs to the BEX family.
Domain:
  • The nuclear export signal is required for export from the nucleus and the interactions with itself and p75NTR/NGFR.
Family:
  • Belongs to the BEX family.
genes like me logo Genes that share domains with BEX3: view

Function for BEX3 Gene

Molecular function for BEX3 Gene

UniProtKB/Swiss-Prot Function:
May be a signaling adapter molecule involved in p75NTR-mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death (By similarity). May play an important role in the pathogenesis of neurogenetic diseases.

Gene Ontology (GO) - Molecular Function for BEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
GO:0005163 nerve growth factor receptor binding IEA --
GO:0005515 protein binding IPI 17355907
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process TAS --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with BEX3: view
genes like me logo Genes that share phenotypes with BEX3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEX3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BEX3 Gene

Localization for BEX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEX3 Gene

Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and the nucleus. Associates with replicating mitochondria (By similarity). {ECO:0000250}.

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 BEX3 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BEX3: view

Pathways & Interactions for BEX3 Gene

genes like me logo Genes that share pathways with BEX3: view

Pathways by source for BEX3 Gene

1 GeneGo (Thomson Reuters) pathway for BEX3 Gene
  • Apoptosis and survival Apoptotic TNF-family pathways
1 Qiagen pathway for BEX3 Gene
  • 14-3-3 and Regulation of BAD Activity

Gene Ontology (GO) - Biological Process for BEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
GO:0007165 signal transduction IBA 21873635
GO:0007275 multicellular organism development TAS 2171551
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
genes like me logo Genes that share ontologies with BEX3: view

No data available for SIGNOR curated interactions for BEX3 Gene

Drugs & Compounds for BEX3 Gene

(5) Drugs for BEX3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gentamicin Approved, Vet_approved Pharma Target 0
Pyrophosphoric acid Approved, Experimental Pharma Enzyme, product of 0
alpha,beta-Methyleneadenosine 5'-triphosphate Experimental Pharma Target 0
Deamido-Nad+ Experimental Pharma Target, Target, Target 0
Gamma-Arsono-Beta, Gamma-Methyleneadenosine-5'-Diphosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with BEX3: view

Transcripts for BEX3 Gene

mRNA/cDNA for BEX3 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEX3

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for BEX3 Gene

No ASD Table

Relevant External Links for BEX3 Gene

GeneLoc Exon Structure for
BEX3

Expression for BEX3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEX3

mRNA Expression by UniProt/SwissProt for BEX3 Gene:

Q00994-BEX3_HUMAN
Tissue specificity: Found in ovarian granulosa cells, testis, prostate and seminal vesicle tissue. High levels also detected in liver.

Evidence on tissue expression from TISSUES for BEX3 Gene

  • Nervous system(4.9)
  • Eye(4.5)
  • Pancreas(4.2)
  • Skin(3.3)
  • Lung(3.2)
  • Adrenal gland(2.8)
  • Kidney(2.8)
  • Heart(2.5)
  • Muscle(2.5)
  • Thyroid gland(2.3)
  • Intestine(2.2)
  • Liver(2.1)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BEX3 Gene

Orthologs for BEX3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BEX3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NGFRAP1 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NGFRAP1 29 30
  • 93.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NGFRAP1 29 30
  • 93.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ngfrap1 29 30
  • 88.89 (n)
OneToOne
Bex3 16
Species where no ortholog for BEX3 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for BEX3 Gene

ENSEMBL:
Gene Tree for BEX3 (if available)
TreeFam:
Gene Tree for BEX3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BEX3: view image
Alliance of Genome Resources:
Additional Orthologs for BEX3

Paralogs for BEX3 Gene

Paralogs for BEX3 Gene

genes like me logo Genes that share paralogs with BEX3: view

Variants for BEX3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BEX3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for BEX3 Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BEX3 Gene

Human Gene Mutation Database (HGMD)
BEX3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BEX3
Leiden Open Variation Database (LOVD)
BEX3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for BEX3 Gene

Disorders for BEX3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BEX3 Gene - From: COP

Disorder Aliases PubMed IDs
gaucher disease, type i
  • gd1
- elite association - COSMIC cancer census association via MalaCards
Search BEX3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BEX3

genes like me logo Genes that share disorders with BEX3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BEX3 Gene

Publications for BEX3 Gene

  1. NADE, a p75NTR-associated cell death executor, is involved in signal transduction mediated by the common neurotrophin receptor p75NTR. (PMID: 10764727) Mukai J … Sato TA (The Journal of biological chemistry 2000) 2 3 4 22
  2. Characterization of the Bex gene family in humans, mice, and rats. (PMID: 15958283) Alvarez E … Freed CR (Gene 2005) 3 4 22
  3. Characterization of three abundant mRNAs from human ovarian granulosa cells. (PMID: 2171551) Rapp G … Scheit KH (DNA and cell biology 1990) 2 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  5. Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism sustained by gene conversion events. (PMID: 16221301) Winter EE … Ponting CP (BMC evolutionary biology 2005) 2 3

Products for BEX3 Gene

Sources for BEX3 Gene