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BEX3 brain expressed X-linked 3 [ Homo sapiens (human) ]

Gene ID: 27018, updated on 5-Mar-2024

Summary

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Official Symbol
BEX3provided by HGNC
Official Full Name
brain expressed X-linked 3provided by HGNC
Primary source
HGNC:HGNC:13388
See related
Ensembl:ENSG00000166681 MIM:300361; AllianceGenome:HGNC:13388
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Bex; NADE; HGR74; NGFRAP1; DXS6984E
Summary
Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within extrinsic apoptotic signaling pathway via death domain receptors. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 147.0), ovary (RPKM 108.9) and 24 other tissues See more
Orthologs
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Genomic context

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See BEX3 in Genome Data Viewer
Location:
Xq22.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103376323..103378164)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101823326..101825167)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (102631251..102633092)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:102585683-102586182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:102603213-102603753 Neighboring gene transcription elongation factor A like 7 Neighboring gene uncharacterized LOC124905204 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:102610887-102612086 Neighboring gene transcription elongation factor A like 9 Neighboring gene uncharacterized LL0XNC01-250H12.3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29817 Neighboring gene MPRA-validated peak7415 silencer Neighboring gene NANOG hESC enhancer GRCh37_chrX:102679147-102679648 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:102689981-102690482 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:102690483-102690982 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:102695365-102696050 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:102696051-102696737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:102715105-102715604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29819 Neighboring gene RAB40A, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29820 Neighboring gene long intergenic non-protein coding RNA 2589 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:102809676-102810875

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. BEX3 contributes to cisplatin chemoresistance in nasopharyngeal carcinoma. Gao W, et al. Cancer Med, 2017 Feb. PMID 28083995, Free PMC Article
  2. NADE (p75NTR-associated cell death executor) suppresses cellular growth in vivo. Tong X, et al. Int J Oncol, 2003 Jun. PMID 12739005
  3. Characterization of human dopamine responsive protein DRG-1 that binds to p75NTR-associated cell death executor NADE. Yu Y, et al. Brain Res, 2006 Jul 19. PMID 16777077
  4. Functional interaction of Fas-associated phosphatase-1 (FAP-1) with p75(NTR) and their effect on NF-kappaB activation. Irie S, et al. FEBS Lett, 1999 Oct 29. PMID 10544233
  5. Characterization of three abundant mRNAs from human ovarian granulosa cells. Rapp G, et al. DNA Cell Biol, 1990 Sep. PMID 2171551

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions.
    Title: Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions.
  2. Results showed that BEX3 was overexpressed in nasopharyngeal carcinoma (NPC), and indicated a unique functional role of BEX3 in mediating the sensitivity of NPC cells to cisplatin.
    Title: BEX3 contributes to cisplatin chemoresistance in nasopharyngeal carcinoma.
  3. Structure-function analysis of NADE: identification of regions that mediate nerve growth factor-induced apoptosis
    Title: Structure-function analysis of NADE: identification of regions that mediate nerve growth factor-induced apoptosis.
  4. suppresses cell growth in vivo, when expressed in cultured cells
    Title: NADE (p75NTR-associated cell death executor) suppresses cellular growth in vivo.
  5. DRG-1 may contribute to the dopamine-induced cell growth, which is negatively regulated by NADE
    Title: Characterization of human dopamine responsive protein DRG-1 that binds to p75NTR-associated cell death executor NADE.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activator activity involved in apoptotic process TAS
Traceable Author Statement
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular function inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables nerve growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein BEX3
Names
brain-expressed X-linked protein 3
nerve growth factor receptor (TNFRSF16) associated protein 1
ovarian granulosa cell 13.0 kDa protein HGR74
p75NTR-associated cell death executor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282674.1 → NP_001269603.1  protein BEX3 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an exon, uses an alternate internal splice site, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (c) has a longer N-terminus than isoform a.
    Source sequence(s)
    AI929106, AK057859, AL606763, BQ068114, CD048295
    Conserved Domains (1) summary
    pfam04538
    Location:81 → 187
    BEX; Brain expressed X-linked like family

  2. NM_014380.3 → NP_055195.1  protein BEX3 isoform b

    See identical proteins and their annotated locations for NP_055195.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a longer N-terminus than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AL606763, BQ068114, M38188
    Consensus CDS
    CCDS14508.1
    UniProtKB/Swiss-Prot
    B2RD17, D3DXA3, Q00994, Q5JQT4, Q5JQT5
    Conserved Domains (1) summary
    pfam04538
    Location:1 → 107
    BEX; Brain expressed X-linked like family

  3. NM_206915.3 → NP_996798.1  protein BEX3 isoform b

    See identical proteins and their annotated locations for NP_996798.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a longer N-terminus than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    BC003190, BQ068114
    Consensus CDS
    CCDS14508.1
    UniProtKB/Swiss-Prot
    B2RD17, D3DXA3, Q00994, Q5JQT4, Q5JQT5
    Related
    ENSP00000361728.3, ENST00000372645.3
    Conserved Domains (1) summary
    pfam04538
    Location:1 → 107
    BEX; Brain expressed X-linked like family

  4. NM_206917.3 → NP_996800.1  protein BEX3 isoform a

    See identical proteins and their annotated locations for NP_996800.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the shortest isoform (a).
    Source sequence(s)
    AK057859, BQ068114
    Consensus CDS
    CCDS14509.1
    UniProtKB/Swiss-Prot
    Q00994
    Related
    ENSP00000354843.4, ENST00000361298.9
    Conserved Domains (1) summary
    pfam04538
    Location:2 → 97
    BEX; Brain expressed X-linked like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    103376323..103378164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    101823326..101825167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q00994.1 GenPept UniProtKB/Swiss-Prot:Q00994

Gene LinkOut

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