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

    Gene ID: 27018, updated on 28-Oct-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; Hero20; NGFRAP1; DXS6984E
    Summary
    Enables identical protein binding activity. Predicted to be involved in negative regulation of protein ubiquitination and 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, Oct 2024]
    Expression
    Broad expression in brain (RPKM 147.0), ovary (RPKM 108.9) and 24 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103376323..103378164)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101823326..101825167)
    RS_2024_09 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 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. Characterization of three abundant mRNAs from human ovarian granulosa cells. Rapp G, et al. DNA Cell Biol, 1990 Sep. PMID 2171551
    5. 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

    See all (33) 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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