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BEX2 brain expressed X-linked 2 [ Homo sapiens (human) ]

Gene ID: 84707, updated on 4-May-2020

Summary

Official Symbol
BEX2provided by HGNC
Official Full Name
brain expressed X-linked 2provided by HGNC
Primary source
HGNC:HGNC:30933
See related
Ensembl:ENSG00000133134 MIM:300691
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BEX1; DJ79P11.1
Summary
This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Expression
Broad expression in brain (RPKM 60.5), thyroid (RPKM 40.0) and 14 other tissues See more
Orthologs

Genomic context

See BEX2 in Genome Data Viewer
Location:
Xq22.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (103309346..103310990, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (102564274..102565974, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene guanosine monophosphate reductase pseudogene Neighboring gene transcription elongation factor A like 5 Neighboring gene transcription elongation factor A like 7 Neighboring gene transcription elongation factor A like 9

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein BEX2
Names
brain-expressed X-linked protein 2
hBex2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016254.1 RefSeqGene

    Range
    5057..6701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168399.1NP_001161871.1  protein BEX2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL133348, CD365521, DB498563
    Consensus CDS
    CCDS55467.1
    UniProtKB/Swiss-Prot
    Q9BXY8
    Related
    ENSP00000442521.1, ENST00000536889.1
    Conserved Domains (1) summary
    pfam04538
    Location:46156
    BEX; Brain expressed X-linked like family
  2. NM_001168400.2NP_001161872.1  protein BEX2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AL133348, BC015522, CB961647, DB498563
    UniProtKB/Swiss-Prot
    Q9BXY8
    Conserved Domains (1) summary
    pfam04538
    Location:45155
    BEX; Brain expressed X-linked like family
  3. NM_001168401.2NP_001161873.1  protein BEX2 isoform 3

    See identical proteins and their annotated locations for NP_001161873.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    BC015522, BU596902, CK001963
    Consensus CDS
    CCDS14505.1
    UniProtKB/Swiss-Prot
    Q9BXY8
    Related
    ENSP00000361759.1, ENST00000372674.5
    Conserved Domains (1) summary
    pfam04538
    Location:14124
    BEX; Brain expressed X-linked like family
  4. NM_032621.4NP_116010.1  protein BEX2 isoform 3

    See identical proteins and their annotated locations for NP_116010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    BC015522, BU569325
    Consensus CDS
    CCDS14505.1
    UniProtKB/Swiss-Prot
    Q9BXY8
    Related
    ENSP00000361762.3, ENST00000372677.7
    Conserved Domains (1) summary
    pfam04538
    Location:14124
    BEX; Brain expressed X-linked like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    103309346..103310990 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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