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

Gene ID: 340542, updated on 5-Mar-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (102153712..102155977, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (100598297..100600564, complement)
105.20220307 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)

Genotypes

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_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
    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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