Aliases for BEX1 Gene

Aliases for BEX1 Gene

  • Brain Expressed X-Linked 1 2 3 5
  • Brain-Expressed X-Linked Protein 1 3 4
  • Protein BEX1 3 4
  • Ovarian Granulosa Cell 13.0 KDa Protein HGR74 3
  • HGR74-H 3
  • HBEX2 3
  • BEX2 3
  • BEX1 5

External Ids for BEX1 Gene

Previous GeneCards Identifiers for BEX1 Gene

  • GC0XM097619
  • GC0XM099226
  • GC0XM100350
  • GC0XM101089
  • GC0XM102123
  • GC0XM102204
  • GC0XM102317
  • GC0XM091981

Summaries for BEX1 Gene

GeneCards Summary for BEX1 Gene

BEX1 (Brain Expressed X-Linked 1) is a Protein Coding gene. Among its related pathways are p75(NTR)-mediated signaling. Gene Ontology (GO) annotations related to this gene include RNA polymerase II activating transcription factor binding. An important paralog of this gene is BEX2.

UniProtKB/Swiss-Prot Summary for BEX1 Gene

  • Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states (By similarity).

Gene Wiki entry for BEX1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BEX1 Gene

Genomics for BEX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BEX1 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
GH0XJ103063 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 266.3 +0.5 470 2.2 ATF2 POLR2A ZIC2 ZBTB10 REST ZNF341 SIN3A SP2 YY1 EHMT2 BEX1 lnc-NXF3-1 BEX4 HSALNG0139282 RAB40AL
GH0XJ103062 Enhancer 0.2 Ensembl 250.7 +2.0 1970 0.4 BEX1 HSALNG0139282 lnc-NXF3-1 BEX4 RAB40AL
GH0XJ103214 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 9.3 -151.6 -151591 2.6 ZNF600 MYC IKZF1 POLR2A REST SMAD5 BHLHE40 ZNF639 TBP ZNF341 BEX4 TCEAL8 ENSG00000224692 BEX1 BEX2 HSALNG0139293
GH0XJ103253 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 7.9 -190.4 -190429 3.2 NCOR1 IKZF1 POLR2A ZIC2 SMAD5 ETS1 BHLHE40 FEZF1 MBD2 ZNF341 HSALNG0139294 TCEAL8 BEX1 HSALNG0139293 BEX4
GH0XJ103310 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 7.9 -246.4 -246441 2 POLR2A REST SMAD5 BHLHE40 ZNF341 MNT SIN3A KLF9 SP2 NKRF BEX2 TCEAL7 BEX4 BEX1 GPRASP2 lnc-BEX3-1 HSALNG0139296 TCEAL5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEX1

Top Transcription factor binding sites by QIAGEN in the BEX1 gene promoter:
  • AML1a
  • ATF
  • LCR-F1
  • NF-kappaB1
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP

Genomic Locations for BEX1 Gene

Latest Assembly
chrX:103,062,651-103,064,171
(GRCh38/hg38)
Size:
1,521 bases
Orientation:
Minus strand

Previous Assembly
chrX:102,317,579-102,319,099
(GRCh37/hg19 by Entrez Gene)
Size:
1,521 bases
Orientation:
Minus strand

chrX:102,317,579-102,319,168
(GRCh37/hg19 by Ensembl)
Size:
1,590 bases
Orientation:
Minus strand

Genomic View for BEX1 Gene

Genes around BEX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEX1 Gene

Proteins for BEX1 Gene

  • Protein details for BEX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBH7-BEX1_HUMAN
    Recommended name:
    Protein BEX1
    Protein Accession:
    Q9HBH7
    Secondary Accessions:
    • A0AVN1
    • A8K4J3
    • Q9NZ33

    Protein attributes for BEX1 Gene

    Size:
    125 amino acids
    Molecular mass:
    14860 Da
    Quaternary structure:
    • Interacts with neurotrophin receptor p75NTR/NGFR. Interacts with OMP (By similarity).

neXtProt entry for BEX1 Gene

Post-translational modifications for BEX1 Gene

  • Phosphorylated. Phosphorylation of Ser-102 protects it from the proteasome (By similarity).
  • Ubiquitinated. Degraded by the proteasome (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BEX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BEX1 Gene

Domains & Families for BEX1 Gene

Gene Families for BEX1 Gene

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

Protein Domains for BEX1 Gene

InterPro:

Suggested Antigen Peptide Sequences for BEX1 Gene

GenScript: Design optimal peptide antigens:
  • Brain-expressed X-linked protein 1 (BEX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HBH7

UniProtKB/Swiss-Prot:

BEX1_HUMAN :
  • Belongs to the BEX family.
Family:
  • Belongs to the BEX family.
genes like me logo Genes that share domains with BEX1: view

Function for BEX1 Gene

Molecular function for BEX1 Gene

UniProtKB/Swiss-Prot Function:
Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states (By similarity).

Gene Ontology (GO) - Molecular Function for BEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001102 RNA polymerase II activating transcription factor binding IPI 16314316
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with BEX1: view
genes like me logo Genes that share phenotypes with BEX1: view

Animal Models for BEX1 Gene

MGI Knock Outs for BEX1:
  • Bex2 Bex2<tm1Kami>
  • Bex2 Bex2<tm1b(EUCOMM)Hmgu>

miRNA for BEX1 Gene

miRTarBase miRNAs that target BEX1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEX1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BEX1 Gene

Localization for BEX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEX1 Gene

Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and the nucleus. {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 BEX1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005667 transcription factor complex IDA 16314316
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with BEX1: view

Pathways & Interactions for BEX1 Gene

PathCards logo

SuperPathways for BEX1 Gene

SuperPathway Contained pathways
1 p75(NTR)-mediated signaling
genes like me logo Genes that share pathways with BEX1: view

Pathways by source for BEX1 Gene

1 BioSystems pathway for BEX1 Gene

Gene Ontology (GO) - Biological Process for BEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 16314316
genes like me logo Genes that share ontologies with BEX1: view

No data available for SIGNOR curated interactions for BEX1 Gene

Drugs & Compounds for BEX1 Gene

No Compound Related Data Available

Transcripts for BEX1 Gene

mRNA/cDNA for BEX1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 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 BEX1

Alternative Splicing Database (ASD) splice patterns (SP) for BEX1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for BEX1 Gene

GeneLoc Exon Structure for
BEX1

Expression for BEX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BEX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BEX1 Gene

This gene is overexpressed in Brain - Hypothalamus (x5.1), Brain - Frontal Cortex (BA9) (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.6), Brain - Amygdala (x4.6), and Brain - Cortex (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEX1

SOURCE GeneReport for Unigene cluster for BEX1 Gene:

Hs.334370

mRNA Expression by UniProt/SwissProt for BEX1 Gene:

Q9HBH7-BEX1_HUMAN
Tissue specificity: Expressed in central nervous system, with high level in pituitary, cerebellum and temporal lobe. Expressed in lung, skeletal muscle, peripheral blood leukocyte, stomach, lymph node, trachea and bone marrow. Highly expressed in acute myeloid leukemia.

Evidence on tissue expression from TISSUES for BEX1 Gene

  • Nervous system(4.9)
  • Adrenal gland(4.5)
  • Pancreas(3.7)
  • Blood(2.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with BEX1: view

Primer products for research

No data available for 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 BEX1 Gene

Orthologs for BEX1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BEX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BEX1 29 30
  • 99.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bex2 29
  • 84.27 (n)
Dog
(Canis familiaris)
Mammalia -- 30
  • 82 (a)
ManyToMany
-- 30
  • 73 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Bex2 29 16 30
  • 81.6 (n)
ManyToMany
Bex1 30
  • 69 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia BEX2 30 30
  • 77 (a)
ManyToMany
Species where no ortholog for BEX1 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)
  • 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 BEX1 Gene

ENSEMBL:
Gene Tree for BEX1 (if available)
TreeFam:
Gene Tree for BEX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BEX1: view image
Alliance of Genome Resources:
Additional Orthologs for BEX1

Paralogs for BEX1 Gene

Paralogs for BEX1 Gene

(4) SIMAP similar genes for BEX1 Gene using alignment to 1 proteins:

  • BEX1_HUMAN
genes like me logo Genes that share paralogs with BEX1: view

Variants for BEX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BEX1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1045058 -- p.Ser11Asn
rs1045061 -- p.Ser13Ile
rs1045063 -- p.Met14Val
rs1045065 -- p.Ala17Val
rs1045082 -- p.Met66Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BEX1 Gene

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

Variation tolerance for BEX1 Gene

Residual Variation Intolerance Score: 56.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BEX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BEX1
Leiden Open Variation Database (LOVD)
BEX1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BEX1 Gene

Disorders for BEX1 Gene

Additional Disease Information for BEX1

No disorders were found for BEX1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BEX1 Gene

Publications for BEX1 Gene

  1. Cloning and expression pattern of a spermatogenesis-related gene, BEX1, mapped to chromosome Xq22. (PMID: 11989783) Yang QS … Mao YM (Biochemical genetics 2002) 3 4 22
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  3. Expression of BEX1 in acute myeloid leukemia with MLL rearrangements. (PMID: 15920485) Quentmeier H … Drexler HG (Leukemia 2005) 3 4
  4. Characterization of the Bex gene family in humans, mice, and rats. (PMID: 15958283) Alvarez E … Freed CR (Gene 2005) 3 4
  5. Human Bex2 interacts with LMO2 and regulates the transcriptional activity of a novel DNA-binding complex. (PMID: 16314316) Han C … Peng X (Nucleic acids research 2005) 3 22

Products for BEX1 Gene

Sources for BEX1 Gene