BMX Gene (Protein Coding)

BMX Non-Receptor Tyrosine Kinase

GC0XP015392
GIFtS:
44
This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction p... See more...

Aliases for BMX Gene

Aliases for BMX Gene

  • BMX Non-Receptor Tyrosine Kinase 2 3 5
  • ETK 2 3 4
  • Bone Marrow Tyrosine Kinase Gene In Chromosome X Protein 3 4
  • Epithelial And Endothelial Tyrosine Kinase 3 4
  • Cytoplasmic Tyrosine-Protein Kinase BMX 3 4
  • BTK-Like On X Chromosome 2 3
  • EC 2.7.10.2 4 51
  • PSCTK3 2 3
  • Etk/Bmx Cytosolic Tyrosine Kinase 3
  • NTK38 Tyrosine Kinase 3
  • EC 2.7.10 51
  • PSCTK2 3
  • NTK38 4
  • BMX 5

External Ids for BMX Gene

Previous GeneCards Identifiers for BMX Gene

  • GC0XP015192
  • GC0XP014308
  • GC0XP014684
  • GC0XP014886
  • GC0XP014880
  • GC0XP015242
  • GC0XP013280

Summaries for BMX Gene

Entrez Gene Summary for BMX Gene

  • This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

GeneCards Summary for BMX Gene

BMX (BMX Non-Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with BMX include Agammaglobulinemia, X-Linked and Wet Beriberi. Among its related pathways are Tyrosine Kinases / Adaptors and Apoptotic execution phase. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BTK.

UniProtKB/Swiss-Prot Summary for BMX Gene

  • Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Plays also a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells.

Gene Wiki entry for BMX Gene

Additional gene information for BMX Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMX Gene

Genomics for BMX Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BMX 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
GH0XJ015499 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 611.5 +36.5 36459 2.2 SCRT2 POLR2A ZBTB33 BMX PIR RF00017-8173 ACE2
GH0XJ015465 Enhancer 0.9 Ensembl ENCODE 600.7 +1.1 1055 1.8 BACH1 TCF12 IKZF2 TRIM22 ARID3A DPF2 RELB JUND BCL11A ARNT BMX PIR PIR-FIGF
GH0XJ015507 Promoter 0.4 EPDnew 600.3 +43.0 43045 0.1 CTCF BMX ACE2 GS1-594A7.3 PIR RF00017-8173
GH0XJ015343 Enhancer 0.9 Ensembl ENCODE 12.8 -120.8 -120807 1.1 CREB1 ZNF629 FOXA1 REST ATF7 SCRT2 CEBPB ZBTB20 SP1 BRCA1 BMX PIR ASB11 PIGA piR-41405-154 VEGFD
GH0XJ015384 Promoter/Enhancer 1 EPDnew Ensembl 11.4 -79.6 -79645 0.8 SP1 CEBPA CEBPB YY1 NR2F2 NR2F1 RAD21 ZFP91 NR2F6 HNF4A VEGFD BMX PIR RF01045-154 PIR-FIGF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMX

Top Transcription factor binding sites by QIAGEN in the BMX gene promoter:
  • COMP1
  • HTF
  • POU2F1c
  • STAT3
  • YY1

Genomic Locations for BMX Gene

Genomic Locations for BMX Gene
chrX:15,464,246-15,556,529
(GRCh38/hg38)
Size:
92,284 bases
Orientation:
Plus strand
chrX:15,482,369-15,574,652
(GRCh37/hg19)
Size:
92,284 bases
Orientation:
Plus strand

Genomic View for BMX Gene

Genes around BMX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMX Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BMX Gene

Proteins for BMX Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for BMX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51813-BMX_HUMAN
    Recommended name:
    Cytoplasmic tyrosine-protein kinase BMX
    Protein Accession:
    P51813
    Secondary Accessions:
    • A6NIH9
    • O60564
    • Q12871

    Protein attributes for BMX Gene

    Size:
    675 amino acids
    Molecular mass:
    78011 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with BCAR1, CAV1, MYD88, PTK2/FAK1, RUFY1, RUFY2, STAT3, TIRAP and TNFRSF1B.
    SequenceCaution:
    • Sequence=AAC08966.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BMX Gene

neXtProt entry for BMX Gene

Protein Expression for BMX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BMX Gene

P51813:
  • RDLAARN
  • VKFYGVC
  • PIYIVTE
  • LSYYEYD
  • YHQHNSAG
  • NGCLLNYL
  • RLYRPHLA

Post-translational modifications for BMX Gene

  • Phosphorylated in response to protein I/II and to LPS. Phosphorylation at Tyr-566 by SRC and by autocatalysis leads to activation and is required for STAT3 phosphorylation by BMX.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMX Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for BMX Gene

Gene Families for BMX Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for BMX Gene

InterPro:
Blocks:
  • SH2 domain signature
  • Tyrosine protein kinase, active site
  • Pleckstrin-like
  • Tec/Btk domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for BMX Gene

GenScript: Design optimal peptide antigens:
  • NTK38 (BMX_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51813

UniProtKB/Swiss-Prot:

BMX_HUMAN :
  • SH2 domain mediates interaction with RUFY1.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
Domain:
  • SH2 domain mediates interaction with RUFY1.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
genes like me logo Genes that share domains with BMX: view

Function for BMX Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for BMX Gene

UniProtKB/Swiss-Prot Function:
Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Plays also a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028};.
UniProtKB/Swiss-Prot Induction:
Activated by IL6/interleukin-6 through phosphatidylinositol 3-kinase (PI3-kinase) pathway. It is likely that activation occurs through binding of phosphoinositides to the PH domain.
UniProtKB/Swiss-Prot EnzymeRegulation:
TEK and vascular endothelial growth factor receptor 1 (FLT1) stimulate BMX tyrosine kinase activity (By similarity). Activated by integrins through the mediation of PTK2/FAK1. Activated by TNF through the mediation of TNFRSF1B.
GENATLAS Biochemistry:
bone marrow tyrosine kinase,X-linked,involved in growth and differentiation of hematopoietic cells,SRC family,Tec subfamily

Enzyme Numbers (IUBMB) for BMX Gene

Gene Ontology (GO) - Molecular Function for BMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS 7970727
GO:0004715 non-membrane spanning protein tyrosine kinase activity TAS --
GO:0005515 protein binding IPI 10688651
genes like me logo Genes that share ontologies with BMX: view
genes like me logo Genes that share phenotypes with BMX: view

Animal Models for BMX Gene

MGI Knock Outs for BMX:
  • Bmx Bmx<tm1Ali>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMX

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BMX Gene

Localization for BMX Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMX Gene

Cytoplasm. Note=Localizes to the edges of spreading cells when complexed with BCAR1.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMX gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0032587 ruffle membrane IDA 11331870
genes like me logo Genes that share ontologies with BMX: view

Pathways & Interactions for BMX Gene

genes like me logo Genes that share pathways with BMX: view

Pathways by source for BMX Gene

1 GeneGo (Thomson Reuters) pathway for BMX Gene
  • G-protein signaling_RhoA regulation pathway
2 Qiagen pathways for BMX Gene
  • Tec Kinases Signaling
  • Transendothelial Migration of Leukocytes
2 Cell Signaling Technology pathways for BMX Gene

SIGNOR curated interactions for BMX Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IBA 21873635
GO:0006468 protein phosphorylation TAS 7970727
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006915 apoptotic process IEA --
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with BMX: view

Drugs & Compounds for BMX Gene

Products:

  1. Drug

(8) Drugs for BMX Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Zanubrutinib Approved, Investigational Pharma Target, inhibitor 33
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
BMX-IN-1 Pharma BMX (also termed ETK) kinase inhibitor 0

(3) Additional Compounds for BMX Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0

(1) ApexBio Compounds for BMX Gene

Compound Action Cas Number
BMX-IN-1 BMX (also termed ETK) kinase inhibitor 1431525-23-3
genes like me logo Genes that share compounds with BMX: view

Drug Products

Transcripts for BMX Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BMX Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMX

Alternative Splicing Database (ASD) splice patterns (SP) for BMX Gene

No ASD Table

Relevant External Links for BMX Gene

GeneLoc Exon Structure for
BMX

Expression for BMX Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMX Gene

mRNA expression in normal human tissues for BMX Gene
mRNA expression by BioGPS for BMX GenemRNA expression by GTEx for BMX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BMX Gene

This gene is overexpressed in Whole Blood (x16.8) and Heart - Atrial Appendage (x4.6).

Protein differential expression in normal tissues from HIPED for BMX Gene

This gene is overexpressed in Cerebrospinal fluid (41.2) and Pancreatic juice (27.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BMX Gene



Protein tissue co-expression partners for BMX Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMX

SOURCE GeneReport for Unigene cluster for BMX Gene:

Hs.495731

mRNA Expression by UniProt/SwissProt for BMX Gene:

P51813-BMX_HUMAN
Tissue specificity: Highly expressed in cells with great migratory potential, including endothelial cells and metastatic carcinoma cell lines.

Evidence on tissue expression from TISSUES for BMX Gene

  • Bone marrow(4.5)
  • Blood(4.4)
  • Skin(4.4)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with BMX: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BMX Gene

Orthologs for BMX Gene

This gene was present in the common ancestor of animals.

Orthologs for BMX Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BMX 30 31
  • 93.88 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BMX 30 31
  • 92.24 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BMX 30 31
  • 89.73 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bmx 30 17 31
  • 88.75 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bmx 30
  • 87.88 (n)
Oppossum
(Monodelphis domestica)
 Mammalia BMX 31
  • 75 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BMX 31
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BMX 30 31
  • 69.8 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BMX 31
  • 63 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Btk29A 31 32
  • 33 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea T14E8.1a 32
  • 34 (a)
T14E8.1b 32
  • 34 (a)
F26E4.5 32
  • 33 (a)
spe-8 32
  • 32 (a)
C25A8.5 32
  • 31 (a)
T25B9.4 32
  • 31 (a)
F22B3.8 32
  • 31 (a)
R05H5.4 32
  • 31 (a)
F23C8.7 32
  • 30 (a)
F59A3.8 32
  • 28 (a)
kin-24 32
  • 25 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 43 (a)
 ManyToMany
Species where no ortholog for BMX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for BMX Gene

ENSEMBL:
Gene Tree for BMX (if available)
TreeFam:
Gene Tree for BMX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BMX: view image

Paralogs for BMX Gene

Paralogs for BMX Gene

(23) SIMAP similar genes for BMX Gene using alignment to 1 proteins:

  • BMX_HUMAN
genes like me logo Genes that share paralogs with BMX: view

Variants for BMX Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMX Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
722714 Benign: not provided 15,542,189(+) C/T SYNONYMOUS_VARIANT
726139 Benign: not provided 15,511,457(+) T/A SYNONYMOUS_VARIANT
728813 Benign: not provided 15,522,476(+) C/T MISSENSE_VARIANT
739305 Benign: not provided 15,549,831(+) G/C INTRON_VARIANT
rs1029888196 A lung large cell carcinoma sample p.Arg670Trp

Additional dbSNP identifiers (rs#s) for BMX Gene

Structural Variations from Database of Genomic Variants (DGV) for BMX Gene

Variant ID Type Subtype PubMed ID
nsv510526 OTHER sequence alteration 20534489

Variation tolerance for BMX Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMX Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMX

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMX Gene

Disorders for BMX Gene

MalaCards: The human disease database

(9) MalaCards diseases for BMX Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia, x-linked
  • xla
wet beriberi
agammaglobulinemia
  • hypogammaglobulinemia
cardiomyopathy, dilated, 1gg
  • cmd1gg
beriberi
  • thiamine deficiency
- elite association - COSMIC cancer census association via MalaCards
Search BMX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BMX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMX Gene

Publications for BMX Gene

  1. BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2. (PMID: 7970727) Tamagnone L … Alitalo K (Oncogene 1994) 2 3 4 23
  2. Etk/BMX, a Btk family tyrosine kinase, and Mal contribute to the cross-talk between MyD88 and FAK pathways. (PMID: 18292575) Semaan N … Sibilia J (Journal of immunology (Baltimore, Md. : 1950) 2008) 3 4 23
  3. Etk/Bmx as a tumor necrosis factor receptor type 2-specific kinase: role in endothelial cell migration and angiogenesis. (PMID: 12370298) Pan S … Min W (Molecular and cellular biology 2002) 3 4 23
  4. Functional interaction of caveolin-1 with Bruton's tyrosine kinase and Bmx. (PMID: 11751885) Vargas L … Mohamed AJ (The Journal of biological chemistry 2002) 3 4 23
  5. Regulation of the PH-domain-containing tyrosine kinase Etk by focal adhesion kinase through the FERM domain. (PMID: 11331870) Chen R … Qiu Y (Nature cell biology 2001) 3 4 23

ExternalLinks

View latest publications for BMX gene in Mastermind

Products for BMX Gene

  • Addgene plasmids for BMX

Sources for BMX Gene