Aliases for AMELX Gene
Aliases for AMELX Gene
External Ids for AMELX Gene
- HGNC: 461
- Entrez Gene: 265
- Ensembl: ENSG00000125363
- OMIM: 300391
- UniProtKB: Q99217
Previous HGNC Symbols for AMELX Gene
- AMG
- AIH1
Previous GeneCards Identifiers for AMELX Gene
- GC0XP010290
- GC0XP010077
- GC0XP010607
- GC0XP010672
- GC0XP011071
- GC0XP011221
- GC0XP009091
Summaries for AMELX Gene
-
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for AMELX Gene
AMELX (Amelogenin X-Linked) is a Protein Coding gene. Diseases associated with AMELX include Amelogenesis Imperfecta, Type Ie and Amelogenesis Imperfecta Hypomaturation Type. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of tooth enamel. An important paralog of this gene is AMELY.
UniProtKB/Swiss-Prot for AMELX Gene
-
Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.
Additional gene information for AMELX Gene
- Monarch Initiative
- Search for AMELX at DataMed
- Search for AMELX at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMELX Gene
Genomics for AMELX Gene
GeneHancer (GH) Regulatory Elements for AMELX Gene
Promoters and enhancers for AMELX Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ011293 | Promoter | 0.5 | EPDnew | 650.7 | +0.8 | 816 | 0.1 | AMELX MIR548AX ARHGAP6 | ||
| GH0XJ011265 | Promoter/Enhancer | 1.3 | EPDnew ENCODE | 12.4 | -26.3 | -26345 | 1.6 | HDAC1 HDGF PKNOX1 ARNT NFRKB ZSCAN4 ARID2 SMARCA5 MTA1 GMEB1 | ARHGAP6 AMELX ENSG00000275194 | |
| GH0XJ011442 | Enhancer | 0.3 | FANTOM5 | 1.7 | +149.8 | 149772 | 0.1 | AMELX LOC100422628 GC0XM011637 ARHGAP6 | ||
| GH0XJ011239 | Enhancer | 0.8 | ENCODE | 0.2 | -53.1 | -53112 | 0.2 | HDAC1 PKNOX1 CLOCK BMI1 FOS RCOR1 REST ZNF592 ZNF217 SMARCA4 | ENSG00000275194 AMELX ARHGAP6 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AMELX on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AMELX gene promoter:
Regulatory Element Products
Genomic Locations for AMELX Gene
Genomic Locations for AMELX Gene
- chrX:11,292,578-11,300,761
- (GRCh38/hg38)
- Size:
- 8,184 bases
- Orientation:
- Plus strand
- chrX:11,311,533-11,318,881
- (GRCh37/hg19)
Genomic View for AMELX Gene
Genes around AMELX on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by Entrez Gene
- Xp22.2 by HGNC
- Xp22.2 by Ensembl
AMELX Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AMELX Gene
Proteins for AMELX Gene
-
Protein details for AMELX Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99217-AMELX_HUMAN
- Recommended name:
- Amelogenin, X isoform
- Protein Accession:
- Q99217
- Q96NW6
- Q9UCA7
Protein attributes for AMELX Gene
- Size:
- 191 amino acids
- Molecular mass:
- 21603 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for AMELX Gene
- Phosphorylated by FAM20C in vitro.
Other Protein References for AMELX Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for AMELX
- Invitrogen Antibodies for AMELX
- GeneTex AMELX Antibody for AMELX
-
Santa Cruz Biotechnology (SCBT) Antibodies for AMELX
Protein Products
-
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Assay Products
No data available for DME Specific Peptides for AMELX Gene
Domains & Families for AMELX Gene
Gene Families for AMELX Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted secreted proteins
Protein Domains for AMELX Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AMELX Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99217- Family:
-
- Belongs to the amelogenin family.
Function for AMELX Gene
Molecular function for AMELX Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.
- GENATLAS Biochemistry:
- amelogenin,extracellular matrix protein of the dental enamel,X linked
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 18434575 |
| GO:0008083 | growth factor activity | ISS | 1734713 |
| GO:0030345 | structural constituent of tooth enamel | IMP | 1483698 |
| GO:0042802 | identical protein binding | ISS | 1734713 |
| GO:0046848 | hydroxyapatite binding | ISS | 1734713 |
Phenotypes for AMELX Gene
- GenomeRNAi human phenotypes for AMELX:
Animal Model Products
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-
CRISPR Products
-
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- Applied Biological Materials CRISPR for AMELX
-
Vectors and viruses for KO, Activation, Repression, and more
-
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- GenScript: Design CRISPR guide RNA sequences for AMELX
miRNA for AMELX Gene
- miRTarBase miRNAs that target AMELX
miRNA Products
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Clone Products
-
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- VectorBuilder custom plasmid, inducible vectors for AMELX
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AMELX
- genomics-online: cdna clones - Search results for available AMELX gene related products
- orf clones - Search results for available AMELX gene related products
- Applied Biological Materials Clones for AMELX
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AMELX
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for AMELX Gene
Localization for AMELX Gene
Subcellular locations from UniProtKB/Swiss-Prot for AMELX Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| mitochondrion | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0009986 | cell surface | ISS | 1734713 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMELX Gene
Pathways & Interactions for AMELX Gene
No Data Available
Interacting Proteins for AMELX Gene
GPS-Prot Interaction Network for AMELX
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001649 | osteoblast differentiation | ISS | 1734713 |
| GO:0001837 | epithelial to mesenchymal transition | ISS | 1734713 |
| GO:0002062 | chondrocyte differentiation | ISS | 1734713 |
| GO:0007155 | cell adhesion | ISS | 1734713 |
| GO:0007165 | signal transduction | TAS | 16674683 |
No data available for Pathways by source and SIGNOR curated interactions for AMELX Gene
Transcripts for AMELX Gene
mRNA/cDNA for AMELX Gene
- (9) Selected AceView cDNA sequences:
- (5) Additional mRNA sequences :
- (4) REFSEQ mRNAs :
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000348912 737 bps (uc004cuu.4)
- ENST00000380712 835 bps (uc004cus.3)
- ENST00000380714 793 bps (uc004cut.3)
CRISPR Products
-
OriGene CRISPR knockouts for AMELX
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AMELX
- genomics-online: gRNA clones - Search results for available AMELX gene related products
- Applied Biological Materials CRISPR for AMELX
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMELX
- GenScript: Design CRISPR guide RNA sequences for AMELX
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AMELX
- Browse OriGene Inhibitory RNA Products For AMELX
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMELX
- genomics-online: shRNA clones - Search results for available AMELX gene related products
Clone Products
-
OriGene ORF clones in human for AMELX
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for AMELX
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AMELX
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AMELX
- genomics-online: cdna clones - Search results for available AMELX gene related products
- orf clones - Search results for available AMELX gene related products
- Applied Biological Materials Clones for AMELX
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for AMELX Gene
mRNA differential expression in normal tissues according to GTEx for AMELX Gene
This gene is overexpressed in Brain - Amygdala (x14.4) and Testis (x10.0).
NURSA nuclear receptor signaling pathways regulating expression of AMELX Gene:
AMELXSOURCE GeneReport for Unigene cluster for AMELX Gene:
Hs.654436Phenotype-based relationships between genes and organs from Gene ORGANizer for AMELX Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- skeleton
Regions:
Head and neck:
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
Primer Products
-
OriGene qPCR primer pairs for AMELX
-
OriGene qPCR primer pairs and template standards for AMELX
- genomics-online: primer clones - Search results for available AMELX gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for AMELX Gene
Orthologs for AMELX Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AMELX 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AMELX 34 33 |
|
OneToMany | |
| rat (Rattus norvegicus) |
Mammalia | Amelx 33 |
|
||
| cow (Bos Taurus) |
Mammalia | AMELX 34 33 |
|
ManyToMany | |
| AMGY 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | AMEL 34 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Amelx 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | AMELX 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany |
- Species where no ortholog for AMELX was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for AMELX Gene
- ENSEMBL:
- Gene Tree for AMELX (if available)
- TreeFam:
- Gene Tree for AMELX (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AMELX: view image
Paralogs for AMELX Gene
Variants for AMELX Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894733 | pathogenic, Amelogenesis imperfecta, type 1E, Amelogenesis imperfecta 1E (AI1E) [MIM:301200] | 11,298,243(+) | C/T | coding_sequence_variant, missense_variant | |
| rs104894734 | pathogenic, Amelogenesis imperfecta, type 1E | 11,298,932(+) | G/A/T | coding_sequence_variant, missense_variant, stop_gained | |
| rs104894736 | pathogenic, Amelogenesis imperfecta, type 1E, Amelogenesis imperfecta 1E (AI1E) [MIM:301200] | 11,298,569(+) | C/A | coding_sequence_variant, missense_variant | |
| rs104894737 | pathogenic, Amelogenesis imperfecta, type 1E | 11,294,790(+) | T/C | initiator_codon_variant, missense_variant | |
| rs104894738 | pathogenic, Amelogenesis imperfecta, type 1E, Amelogenesis imperfecta 1E (AI1E) [MIM:301200] | 11,294,799(+) | G/C | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2739963 | CNV | deletion | 23290073 |
Residual Variation Intolerance Score:
28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.72;
46.54% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AMELX Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMELX Gene
Disorders for AMELX Gene
(19) MalaCards diseases for AMELX Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amelogenesis imperfecta, type ie |
|
|
| amelogenesis imperfecta hypomaturation type |
|
|
| amelogenesis imperfecta |
|
|
| teeth hard tissue disease |
|
|
| amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 |
|
|
Search AMELX in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AMELX_HUMAN- Amelogenesis imperfecta 1E (AI1E) [MIM:301200]: A X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small. {ECO:0000269 PubMed:10669095, ECO:0000269 PubMed:15111628, ECO:0000269 PubMed:7599636, ECO:0000269 PubMed:7782077, ECO:0000269 PubMed:9188994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for AMELX
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AMELX Gene
Publications for AMELX Gene
- The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PMID: 1734713) Salido EC … Shapiro LJ (American journal of human genetics 1992) 2 3 4 22 58
- Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. (PMID: 15111628) Kim JW … Hu JC (Journal of dental research 2004) 3 4 22 58
- A nomenclature for X-linked amelogenesis imperfecta. (PMID: 11922868) Hart PS … Wright JT (Archives of oral biology 2002) 3 4 22 58
- Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. (PMID: 7782077) Lagerström-Fermér M … Landegren U (Genomics 1995) 3 4 22 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
Products for AMELX Gene
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- VectorBuilder custom plasmid, inducible vectors for AMELX
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 47 available AMELX Antibodies ranked by validation data
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- Quality Products:
- GeneTex AMELX Antibody for AMELX
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- Horizon Cell Lines for AMELX
- genomics-online: cdna clones - Search results for available AMELX gene related products
- orf clones - Search results for available AMELX gene related products
- genomics-online: gRNA clones - Search results for available AMELX gene related products
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Sources for AMELX Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
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