BEX4 brain expressed X-linked 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BEX4provided by HGNC
Official Full Name: brain expressed X-linked 4provided by HGNC
Primary source: HGNC:HGNC:25475
See related: Ensembl:ENSG00000102409 MIM:300692; AllianceGenome:HGNC:25475
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: BEXL1
Summary: This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in brain (RPKM 111.7), thyroid (RPKM 67.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (103215092..103217246)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (101662085..101664239)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (102470020..102472174)

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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aberrant brain-expressed X-linked 4 (BEX4) expression is a novel prognostic biomarker in gastric cancer.
Title: Aberrant brain-expressed X-linked 4 (BEX4) expression is a novel prognostic biomarker in gastric cancer.
these results suggest that the oncogenicity of BEX4 is conferred by PLK1-mediated phosphorylation, and thus, the BEX4-PLK1 interaction is a novel oncogenic signal that enables the acquisition of chromosomal aneuploidy.
Title: Oncogenic potential of BEX4 is conferred by Polo-like kinase 1-mediated phosphorylation.
BEX4 positively regulated the expression of OCT4, silencing of which reduced the proliferation of A549 and H1975cells with over-expressed BEX4.
Title: mTOR up-regulation of BEX4 promotes lung adenocarcinoma cell proliferation by potentiating OCT4.
Study provides evidence that BEX4 functions as tumor suppressor by inhibiting proliferation and growth of oral squamous cell carcinoma (OSCC). Decreased BEX4 contributes to the increased proliferative propensity of OSCC.
Title: Decreased brain-expressed X-linked 4 (BEX4) expression promotes growth of oral squamous cell carcinoma.
BEX4 overexpression causes an imbalance between TUB acetylation and deacetylation by SIRT2 inhibition and induces oncogenic aneuploidy transformation.
Title: Oncogenic microtubule hyperacetylation through BEX4-mediated sirtuin 2 inhibition.

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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

RH80982 (e-PCR)
- UniSTS:92748

RH46879 (e-PCR)
- UniSTS:24442

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase 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

Process	Evidence Code	Pubs
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of tubulin deacetylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein BEX4

Names: BEX family member 4; BEX1-like protein 1; brain expressed X-linked-like 1; nerve growth factor receptor-associated protein 3

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_021339.1 RefSeqGene

Range

5017..7155

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080425.4 → NP_001073894.1 protein BEX4

See identical proteins and their annotated locations for NP_001073894.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate non-coding exon in the 5' UTR. Variants 1 and 2 encode the same protein.

Source sequence(s)

AI199874, AL035494, AV726729, BC015794, BC068069

Consensus CDS

CCDS35355.1

UniProtKB/Swiss-Prot

Q9NWD9

Related

ENSP00000361780.5, ENST00000372695.6

Conserved Domains (1) summary

pfam04538
Location:15 → 116

BEX; Brain expressed X-linked like family
NM_001127688.2 → NP_001121160.1 protein BEX4

See identical proteins and their annotated locations for NP_001121160.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AI199874, AL035494, AL544124, AV726729

Consensus CDS

CCDS35355.1

UniProtKB/Swiss-Prot

Q9NWD9

Related

ENSP00000361776.3, ENST00000372691.3

Conserved Domains (1) summary

pfam04538
Location:15 → 116

BEX; Brain expressed X-linked like family