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    BEX5 brain expressed X-linked 5 [ Homo sapiens (human) ]

    Gene ID: 340542, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BEX5provided by HGNC
    Official Full Name
    brain expressed X-linked 5provided by HGNC
    Primary source
    HGNC:HGNC:27990
    See related
    Ensembl:ENSG00000184515 MIM:300693; AllianceGenome:HGNC:27990
    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
    NGFRAP1L1
    Summary
    Predicted to enable signaling receptor binding activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 24.8), thyroid (RPKM 6.2) and 10 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BEX5 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (102153712..102155977, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (100598297..100600564, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (101408684..101410949, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene transcription elongation factor A like 2 Neighboring gene uncharacterized LOC105373299 Neighboring gene transcription elongation factor A like 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29813 Neighboring gene t-complex 11 family, X-linked 3, pseudogene Neighboring gene t-complex 11 family, X-linked 1

    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. Adaptive evolution and frequent gene conversion in the brain expressed X-linked gene family in mammals. Zhang L. Biochem Genet, 2008 Jun. PMID 18236150
    2. Characterization of the Bex gene family in humans, mice, and rats. Alvarez E, et al. Gene, 2005 Aug 29. PMID 15958283
    3. Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism sustained by gene conversion events. Winter EE, et al. BMC Evol Biol, 2005 Oct 12. PMID 16221301, Free PMC Article
    4. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    5. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104434, MGC126446

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion 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 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
    		  

    General protein information

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    Preferred Names
    protein BEX5
    Names
    BEX family member 5
    NGFRAP1-like 1
    NGFRAP1-like protein 1
    brain-expressed X-linked protein 5
    nerve growth factor receptor-associated protein 2

    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_001012978.3 → NP_001012996.1  protein BEX5

      See identical proteins and their annotated locations for NP_001012996.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AY833564, BC106955
      Consensus CDS
      CCDS35350.1
      UniProtKB/Swiss-Prot
      Q569J0, Q56A74, Q5H9J7
      Related
      ENSP00000328030.3, ENST00000333643.4
      Conserved Domains (1) summary
      pfam04538
      Location:1 → 107
      BEX; Brain expressed X-linked like family

    2. NM_001159560.2 → NP_001153032.1  protein BEX5

      See identical proteins and their annotated locations for NP_001153032.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI985090, AY833564
      Consensus CDS
      CCDS35350.1
      UniProtKB/Swiss-Prot
      Q569J0, Q56A74, Q5H9J7
      Related
      ENSP00000446054.1, ENST00000543160.5
      Conserved Domains (1) summary
      pfam04538
      Location:1 → 107
      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
      102153712..102155977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791816.1 Reference GRCh38.p14 PATCHES

      Range
      48802..51067 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      100598297..100600564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H9J7.1 GenPept UniProtKB/Swiss-Prot:Q5H9J7

    Gene LinkOut

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

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