BMX BMX non-receptor tyrosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMXprovided by HGNC
Official Full Name: BMX non-receptor tyrosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:1079
See related: Ensembl:ENSG00000102010 MIM:300101; AllianceGenome:HGNC:1079
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: ETK; PSCTK2; PSCTK3
Summary: 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]
Expression: Broad expression in bone marrow (RPKM 2.4), placenta (RPKM 2.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15500807..15556519)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (15083780..15139496)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15518930..15574642)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

BMX controls 3betaHSD1 and sex steroid biosynthesis in cancer.
Title: BMX controls 3βHSD1 and sex steroid biosynthesis in cancer.
Linc00173 upregulated Etk through functioning as a competitive endogenous RNA (ceRNA) by "sponging" miRNA-218 and led to the upregulation of GSKIP and NDRG1, resulting in the translocation of beta-catenin. Importantly, expression analysis revealed that both Linc00173 and Etk were upregulated in SCLC patient samples and exhibiting positive Linc00173/Etk correlation
Title: Linc00173 promotes chemoresistance and progression of small cell lung cancer by sponging miR-218 to regulate Etk expression.
tyrosine kinase BMX is negatively regulated by androgen and contributes to castration-resistant prostate cancer by enhancing the phosphorylation and activation of multiple receptor tyrosine kinases following androgen deprivation therapy
Title: BMX-Mediated Regulation of Multiple Tyrosine Kinases Contributes to Castration Resistance in Prostate Cancer.
Epithelial and endothelial tyrosine kinase (Etk) interacts with 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4) to promote small-cell lung cancer (SCLC) chemoresistance through regulation of autophagy.
Title: Etk Interaction with PFKFB4 Modulates Chemoresistance of Small-cell Lung Cancer by Regulating Autophagy.
results demonstrate that hypoxia-dependent upregulation of BMX contributes to therapeutic resistance through a compensatory prosurvival signaling mechanism. These results also reveal the role of off-target drug effects on tumor microenvironment and development of acquired drug resistance.
Title: Hypoxia-induced upregulation of BMX kinase mediates therapeutic resistance in acute myeloid leukemia.
These results suggested that BMX can promote cell proliferation through PI3K/AKT/mTOR and STAT3 signaling pathways in cervical cancer cells.
Title: BMX/Etk promotes cell proliferation and tumorigenicity of cervical cancer cells through PI3K/AKT/mTOR and STAT3 pathways.
The studies suggested that BMXDeltaN might play roles in lung tumorigenicity, with expression of BMXDeltaN promoting cell growth, cell migration, and cell transformation.
Title: A novel BMX variant promotes tumor cell growth and migration in lung adenocarcinoma.
results demonstrate that cleaved BMX is a novel N-end rule substrate, and its degradation exhibits a novel interplay between substrate phosphorylation and N-end rule degradation, revealing an increasing complex regulatory network of apoptotic proteolytic signaling cascades.
Title: Phosphorylation Impacts N-end Rule Degradation of the Proteolytically Activated Form of BMX Kinase.
Data indicate that EPHA3 is involved in regulating the multidrug resistance (MDR) of small cell lung cancer (SCLC) via PI3K/BMX/STAT3 signaling and may be a therapeutic target in SCLC.
Title: EPHA3 regulates the multidrug resistance of small cell lung cancer via the PI3K/BMX/STAT3 signaling pathway.
BMX directly inhibits a core component of the intrinsic apoptosis machinery opens opportunities to improve the efficacy of existing chemotherapy by potentiating BAK-driven cell death in cancer cells.
Title: BMX Negatively Regulates BAK Function, Thereby Increasing Apoptotic Resistance to Chemotherapeutic Drugs.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	A cell-based bimolecular fluorescence complementation assay demonstrates that HIV-1 Nef interacts with the Tec family members Bmx, Btk, and Itk, but not with Tec or Txk in 293T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7970 (e-PCR)
- UniSTS:99334

DXS7664 (e-PCR)
- UniSTS:55088

D4S2464E (e-PCR)
- UniSTS:150355

DXS1053 (e-PCR)
- UniSTS:76416

DXS1053 (e-PCR)
- UniSTS:16010

DXS7016 (e-PCR)
- UniSTS:53386

DXS7972 (e-PCR)
- UniSTS:99788

SHGC-24715 (e-PCR)
- UniSTS:50906

DXS7320 (e-PCR)
- UniSTS:60657

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables non-membrane spanning protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables non-membrane spanning protein tyrosine kinase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adaptive immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	TAS Traceable Author Statement more info	PubMed
involved_in phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytoplasmic tyrosine-protein kinase BMX

Names: BTK-like on X chromosome; Etk/Bmx cytosolic tyrosine kinase; NTK38 tyrosine kinase; bone marrow tyrosine kinase gene in chromosome X protein; epithelial and endothelial tyrosine kinase

NP_001307795.1

EC 2.7.10.2

NP_001712.1

EC 2.7.10.2

NP_975010.1

EC 2.7.10.2

XP_016885241.1

EC 2.7.10.2

XP_054183595.1

EC 2.7.10.2

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_013227.1 RefSeqGene

Range

5031..60743

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001320866.2 → NP_001307795.1 cytoplasmic tyrosine-protein kinase BMX isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site in the mid-coding region compared to variant 1. The resulting isoform (2) is 1 aa shorter than isoform 1.

Source sequence(s)

AF045459, BC016652, BP236451, X83107

UniProtKB/TrEMBL

A8K709, B2R8Z4

Conserved Domains (5) summary

cd05113
Location:411 → 666

PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome

cd10399
Location:288 → 393

SH2_Tec_Bmx; Src homology 2 (SH2) domain found in Tec protein, Bmx

cd01238
Location:7 → 147

PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain

pfam00169
Location:6 → 111

PH; PH domain

pfam07714
Location:416 → 665

Pkinase_Tyr; Protein tyrosine kinase
NM_001721.7 → NP_001712.1 cytoplasmic tyrosine-protein kinase BMX isoform 1

See identical proteins and their annotated locations for NP_001712.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' non-coding exon compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AF045459, BC016652, BQ226991

Consensus CDS

CCDS14168.1

UniProtKB/Swiss-Prot

A6NIH9, O60564, P51813, Q12871

UniProtKB/TrEMBL

A8K709, B2R8Z4

Related

ENSP00000340082.6, ENST00000342014.6

Conserved Domains (3) summary

cd05113
Location:412 → 667

PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome

cd10399
Location:289 → 394

SH2_Tec_Bmx; Src homology 2 (SH2) domain found in Tec protein, Bmx

cd01238
Location:7 → 147

PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
NM_203281.3 → NP_975010.1 cytoplasmic tyrosine-protein kinase BMX isoform 1

See identical proteins and their annotated locations for NP_975010.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AF045459, BC016652, BP236451, X83107

Consensus CDS

CCDS14168.1

UniProtKB/Swiss-Prot

A6NIH9, O60564, P51813, Q12871

UniProtKB/TrEMBL

A8K709, B2R8Z4

Related

ENSP00000308774.6, ENST00000348343.11

Conserved Domains (3) summary

cd05113
Location:412 → 667

PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome

cd10399
Location:289 → 394

SH2_Tec_Bmx; Src homology 2 (SH2) domain found in Tec protein, Bmx

cd01238
Location:7 → 147

PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain