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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BEX4 Gene

protein-coding GIFtS: 47
GCID: GC0XP102470

brain expressed, X-linked 4

(Previous names: brain expressed X-linked-like 1, BEX family member 4 )
(Previous symbol: BEXL1)

Search for BEX4
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Brain Expressed, X-Linked 4¹ ²		BEX1-Like Protein 1² ³
BEXL1¹ ² ³		FLJ10097¹
BEX Family Member 4¹ ²		Protein BEX4²
Brain Expressed X-Linked-Like 1¹ ²		NADE3³
Nerve Growth Factor Receptor-Associated Protein 3² ³		Brain-Expressed X-Linked Protein 4³

External Ids:	HGNC: 25475¹	Entrez Gene: 56271²	Ensembl: ENSG00000102409⁷	OMIM: 300692⁵	UniProtKB: Q9NWD9³

Export aliases for BEX4 gene to outside databases

Previous GC identifers: GC0XP102357 GC0XP092133

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BEX4:

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BEX4 gene promoter:
GR GR-beta POU3F1 C/EBPalpha POU2F1 POU2F1a Sox9 GR-alpha En-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for BEX4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEX4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.1-q22.3 Ensembl cytogenetic band: Xq22.1 HGNC cytogenetic band: Xq22.1-q22.3

BEX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BEX4 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP102470: view genomic region (about GC identifiers)

Start:	102,470,020 bp from pter	End:	102,472,174 bp from pter
Size:	2,155 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BEX4_HUMAN, Q9NWD9 (See protein sequence)

Recommended Name: Protein BEX4

Size: 120 amino acids; 14067 Da

Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity)

Explore the universe of human proteins at neXtProt for BEX4: NX_Q9NWD9

Post-translational modifications:

Ubiquitinated. Degraded by the proteasome (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NWD9

BEX4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001073894.1 NP_001121160.1

ENSEMBL proteins:

ENSP00000361780 ENSP00000361776

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	Uscn Proteins for BEX4

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--

BEX4 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BEX4 for domains About GeneDecksing

2 InterPro domains/families:

IPR021156 TF_A-like/BEX-like

IPR007623 BEX

Graphical View of Domain Structure for InterPro Entry Q9NWD9

ProtoNet protein and cluster: Q9NWD9

UniProtKB/Swiss-Prot: BEX4_HUMAN, Q9NWD9

Similarity: Belongs to the BEX family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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1 GenomeRNAi human phenotype for BEX4:

Increased G1 DNA content

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BEX4

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for BEX4 (Q9NWD9³ ENSP00000361776⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTK2	Q05397³	I2D: score=2
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BEX4
Search CenterWatch for drugs/clinical trials and news about BEX4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BEX4 gene (2 alternative transcripts):

NM_001080425.3 NM_001127688.2

Unigene Cluster for BEX4:

Brain expressed, X-linked 4

Hs.184736 [show with all ESTs]

Unigene Representative Sequence: NM_001080425

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372695(uc004ejv.4 uc004ejw.4) ENST00000372691

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Additional cDNA sequence:

AK000959.1 AY833563.1 BC015794.2 BC068069.1

13 DOTS entries:

DT.442377 DT.100031998 DT.100785667 DT.97813298 DT.100785664 DT.100785670 DT.121305800 DT.95217724

DT.100739054 DT.121305818 DT.92462691 DT.97773413 DT.121305835

24/181 AceView cDNA sequences (see all 181):

CR595447 AW152218 BI324844 AI679896 AW338036 AI955137 AA404705 AW673819

AA031771 AA256688 BU688971 BQ432530 AA404255 AL045947 CR600487 CR624132

BE350256 BU176837 CB240611 BQ719299 CR620378 CR598850 CR617571 AU117899

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for BEX4 About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3a	·	3b	·	3c	·	3d
SP1:							-
SP2:							-
SP3:							-		-
SP4:

ECgene alternative splicing isoforms for BEX4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BEX4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAATTCACC

About this image

BEX4 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Rod Bipolar Cells

Bipolar, Retina

Heart

Myocardium

Cardiac Fibroblasts

Epicardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Cartilage-like cells (Differentiation of s...)

Cartilage

See BEX4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BEX4

SOURCE GeneReport for Unigene cluster: Hs.184736

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

--

ENSEMBL Gene Tree for BEX4 (if available)
TreeFam Gene Tree for BEX4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BEX4 gene

BEX1² BEX5² BEX2² NGFRAP1²

4 SIMAP similar genes for BEX4 using alignment to 1 protein entry: BEX4_HUMAN:

NGFRAP1 BEX1 BEX5 BEX2

BEX4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs151102669^1,2		--	102468028(+)	`CCTACC/TTCAGC`	2	--	us2k¹		0	--	--	--	--
rs187885277^1,2		--	102468037(+)	`GCCCCA/CCAAAT`	2	--	us2k¹		0	--	--	--	--
rs192315251^1,2		--	102468453(+)	`CTAAAA/TTCCCA`	2	--	us2k¹		0	--	--	--	--
rs5987708^1,2	C,F,A,H,	--	102468481(+)	`AGAGTA/CTTTGC`	2	--	us2k¹		20		NS EA WA NA CSA	1968
rs5987709^1,2		--	102468567(+)	`aggaaC/Tcacag`	2	--	us2k¹		0	--	--	--	--
rs188726022^1,2		--	102468581(+)	`AAAGAC/GATAAT`	2	--	us2k¹		0	--	--	--	--
rs199878589^1,2		--	102468765(+)	`CTGTT-/AAAAAA`	2	--	us2k¹		0	--	--	--	--
rs192417285^1,2		--	102468968(+)	`TTAAGA/GTTGGG`	2	--	us2k¹		0	--	--	--	--
rs184585074^1,2		--	102469524(+)	`TTCTGA/GTGTGG`	2	--	us2k¹		0	--	--	--	--
rs188903483^1,2		--	102469555(+)	`AACAAA/GTACCA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BEX4 (102470020 - 102472174 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BEX4: --
Human Gene Mutation Database (HGMD): BEX4

Locus Specific Mutation Databases (LSDB): BEX4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BEX4 for disorders About MalaCards

BEX4 for disorders About GeneDecksing

OMIM gene information: 300692 OMIM disorders: --

Export disorders for BEX4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BEX4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BEX4)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of the Bex gene family in humans, mice, and rats. (PubMed id 15958283)^{1, 2, 3} Alvarez E.... Freed C.R. (2005)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 56271	HGNC: 25475	AceView: BEXL1	Ensembl:ENSG00000102409	euGenes: HUgn56271
ECgene: BEX4	H-InvDB: BEX4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BEX4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BEX4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BEX4 gene:
Search GeneIP for patents involving BEX4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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In Situ Hybridization Assays from
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About This Section


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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEX4

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes BEX4 gene at Home site.

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BEX4 Gene

brain expressed, X-linked 4

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BEX4 Gene

brain expressed, X-linked 4

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for BEX4 gene

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