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

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; AllianceGenome:HGNC:30933
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]
Annotation information: Note: The BEX1 and BEX2 genes appear to have undergone gene conversion, exchanging bits of coding sequence with each other. This complicates determination of orthologs in other species. For this reason, gene name assignments may not be consistent between species. [06 Dec 2023]
Expression: Broad expression in brain (RPKM 60.5), thyroid (RPKM 40.0) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

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 (103309346..103310990, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (101756321..101757965, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (102564274..102565918, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Crotonylated BEX2 interacts with NDP52 and enhances mitophagy to modulate chemotherapeutic agent-induced apoptosis in non-small-cell lung cancer cells.
Title: Crotonylated BEX2 interacts with NDP52 and enhances mitophagy to modulate chemotherapeutic agent-induced apoptosis in non-small-cell lung cancer cells.
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.
Title: Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.
BEX2 is required for maintaining dormant cancer stem cell in hepatocellular carcinoma.
Title: BEX2 is required for maintaining dormant cancer stem cell in hepatocellular carcinoma.
BEX2 suppresses mitochondrial activity and is required for dormant cancer stem cell maintenance in intrahepatic cholangiocarcinoma.
Title: BEX2 suppresses mitochondrial activity and is required for dormant cancer stem cell maintenance in intrahepatic cholangiocarcinoma.
MiR-370 could downregulate BEX2 gene.
Title: MicroRNA-370 functions as a tumor suppressor in hepatocellular carcinoma via inhibition of the MAPK/JNK signaling pathway by targeting BEX2.
The study reveals that BEX2 promotes colorectal cancer cell proliferation via the JNK/c-Jun pathway, suggesting BEX2 as a potential candidate target for the treatment of CRC.
Title: BEX2 promotes tumor proliferation in colorectal cancer.
Bex2 affects the invasion and migration ability of glioma cells by regulating beta-catenin
Title: Β-catenin is involved in Bex2 down-regulation induced glioma cell invasion/migration inhibition.
Bex2 overexpression promoted cell migration and invasion in glioma cell lines.
Title: Bex2 is critical for migration and invasion in malignant glioma cells.
Bex2 may be an important player during the development of glioma
Title: Bex2 regulates cell proliferation and apoptosis in malignant glioma cells via the c-Jun NH2-terminal kinase pathway.
Both BEX2 and INI1/hSNF5 mainly localized in cell nucleus.
Title: [BEX2 regulates cell cycle through the interaction with INI1/hSNF5].

Submit: New GeneRIF Correction See all GeneRIFs (18)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 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 apoptotic process	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 regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
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 nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein BEX2

Names: brain-expressed X-linked protein 2; hBex2

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.

Genomic

NG_016254.1 RefSeqGene

Range

5057..6701

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001168399.2 → NP_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:46 → 156

BEX; Brain expressed X-linked like family
NM_001168400.2 → NP_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:45 → 155

BEX; Brain expressed X-linked like family
NM_001168401.2 → NP_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

B2R574, D3DXA2, F5H7H5, Q5JVV9, Q9BXY8

Related

ENSP00000361759.1, ENST00000372674.5

Conserved Domains (1) summary

pfam04538
Location:14 → 124

BEX; Brain expressed X-linked like family
NM_032621.4 → NP_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

B2R574, D3DXA2, F5H7H5, Q5JVV9, Q9BXY8

Related

ENSP00000361762.3, ENST00000372677.8

Conserved Domains (1) summary

pfam04538
Location:14 → 124

BEX; Brain expressed X-linked like family