BEX1 brain expressed X-linked 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BEX1provided by HGNC
Official Full Name: brain expressed X-linked 1provided by HGNC
Primary source: HGNC:HGNC:1036
See related: Ensembl:ENSG00000133169 MIM:300690; AllianceGenome:HGNC:1036
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: BEX2; HBEX2; HGR74-h
Summary: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of DNA-binding transcription factor activity and positive regulation of transcription by RNA polymerase II. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Dec 2024]
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: Biased expression in brain (RPKM 178.4), testis (RPKM 38.4) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1; Xq22

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (103062651..103064171, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (101507581..101509098, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (102317579..102319099, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

BEX1 supports the stemness of hepatoblastoma by facilitating Warburg effect in a PPARgamma/PDK1 dependent manner.
Title: BEX1 supports the stemness of hepatoblastoma by facilitating Warburg effect in a PPARγ/PDK1 dependent manner.
BEX1 mediates sorafenib resistance in hepatocellular carcinoma by regulating AKT signaling.
Title: BEX1 mediates sorafenib resistance in hepatocellular carcinoma by regulating AKT signaling.
DNMT1-mediated methylation of BEX1 regulates stemness and tumorigenicity in liver cancer.
Title: DNMT1-mediated methylation of BEX1 regulates stemness and tumorigenicity in liver cancer.
BEX1 Is Differentially Expressed in Aldosterone-Producing Adenomas and Protects Human Adrenocortical Cells From Ferroptosis.
Title: BEX1 Is Differentially Expressed in Aldosterone-Producing Adenomas and Protects Human Adrenocortical Cells From Ferroptosis.
BEX1 and BEX4 Induce GBM Progression through Regulation of Actin Polymerization and Activation of YAP/TAZ Signaling.
Title: BEX1 and BEX4 Induce GBM Progression through Regulation of Actin Polymerization and Activation of YAP/TAZ Signaling.
BEX1 was downregulated in esophageal squamous cell cancer (ESCC) tissues compared to adjacent normal tissues, and low BEX1 expression was significantly associated with larger tumor volume, advanced clinical, and poor survival in patients with ESCC.
Title: Low expression of BEX1 predicts poor prognosis in patients with esophageal squamous cell cancer.
BEX1 functions as an mRNA-dependent effector that augments pathology-promoting gene expression during heart failure.
Title: BEX1 is an RNA-dependent mediator of cardiomyopathy.
loss of BEX1 expression in FLT3-ITD driven AML potentiates oncogenic signaling and leads to decreased overall survival
Title: BEX1 acts as a tumor suppressor in acute myeloid leukemia.
Our results revealed an interaction between BEX1 and BCL-2 and a novel mechanism of imatinib resistance mediated by the BEX1/BCL-2 pathway.
Title: BEX1 promotes imatinib-induced apoptosis by binding to and antagonizing BCL-2.
Bex family members play important roles in the formation of protein network hubs.
Title: Brain expressed and X-linked (Bex) proteins are intrinsically disordered proteins (IDPs) and form new signaling hubs.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

WI-11354 (e-PCR)
- UniSTS:83509

NoName (e-PCR)
- UniSTS:495179

NoName (e-PCR)
- UniSTS:489900

RH18267 (e-PCR)
- UniSTS:60599

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
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 cell differentiation	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 nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	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
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein BEX1

Names: brain-expressed X-linked protein 1; ovarian granulosa cell 13.0 kDa protein hGR74

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.