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

Gene ID: 27018, updated on 5-Aug-2022

Summary

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

See BEX3 in Genome Data Viewer
Location:
Xq22.2
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103376323..103378164)
110 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 transcription elongation factor A like 7 Neighboring gene uncharacterized LOC124905204 Neighboring gene transcription elongation factor A like 9 Neighboring gene uncharacterized LL0XNC01-250H12.3 Neighboring gene RAB40A, member RAS oncogene family Neighboring gene long intergenic non-protein coding RNA 2589

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001282674.1NP_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:81187
    BEX; Brain expressed X-linked like family
  2. NM_014380.3NP_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
    Q00994, Q5JQT5
    Conserved Domains (1) summary
    pfam04538
    Location:1107
    BEX; Brain expressed X-linked like family
  3. NM_206915.3NP_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
    Q00994, Q5JQT5
    Related
    ENSP00000361728.3, ENST00000372645.3
    Conserved Domains (1) summary
    pfam04538
    Location:1107
    BEX; Brain expressed X-linked like family
  4. NM_206917.3NP_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:297
    BEX; Brain expressed X-linked like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)