BZW2

Summary

BZW2 (basic leucine zipper and W2 domains 2, HGNC:18808) is a protein-coding gene on chromosome 7p21.1, encoding eIF5-mimic protein 1 (Q9Y6E2). Translation initiation regulator which represses non-AUG initiated translation and repeat-associated non-AUG (RAN) initiated translation by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function.

Enables cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm.

Source: NCBI Gene 28969 — RefSeq curated summary.

At a glance

• GWAS associations: 29
• Clinical variants (ClinVar): 63 total
• Druggable target: yes
• MANE Select transcript: NM_014038

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18808
Approved symbol	BZW2
Name	basic leucine zipper and W2 domains 2
Location	7p21.1
Locus type	gene with protein product
Status	Approved
Aliases	HSPC028, MST017, MSTP017, 5MP1
Ensembl gene	ENSG00000136261
Ensembl biotype	protein_coding
OMIM	619275
Entrez	28969

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000258761, ENST00000405202, ENST00000407633, ENST00000415365, ENST00000430000, ENST00000432311, ENST00000433922, ENST00000436868, ENST00000437745, ENST00000438834, ENST00000446596, ENST00000480517, ENST00000630952, ENST00000897357, ENST00000897358, ENST00000897359, ENST00000897360, ENST00000916421, ENST00000916422, ENST00000948943, ENST00000948944, ENST00000948945

RefSeq mRNA: 5 — MANE Select: NM_014038 NM_001159767, NM_001362717, NM_001362718, NM_001362719, NM_014038

CCDS: CCDS5362, CCDS87482

Canonical transcript exons

ENST00000258761 — 12 exons

Exon	Start	End
ENSE00001180304	16646181	16646288
ENSE00001705246	16685905	16686040
ENSE00003589155	16704547	16704669
ENSE00003611972	16696915	16697061
ENSE00003663050	16698048	16698186
ENSE00003681719	16689797	16689906
ENSE00003689117	16706060	16706517
ENSE00003705849	16682780	16682845
ENSE00003707126	16681301	16681404
ENSE00003707358	16665437	16665501
ENSE00003708571	16674412	16674588
ENSE00003789067	16694834	16695004

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 88.9435 / max 890.7861, expressed in 1826 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77320	88.4459	1826
77322	0.4976	149

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.28	gold quality
biceps brachii	UBERON:0001507	99.27	gold quality
heart right ventricle	UBERON:0002080	99.19	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.18	gold quality
triceps brachii	UBERON:0001509	99.07	gold quality
vastus lateralis	UBERON:0001379	99.01	gold quality
left ventricle myocardium	UBERON:0006566	98.90	gold quality
placenta	UBERON:0001987	98.89	gold quality
gluteal muscle	UBERON:0002000	98.86	gold quality
body of tongue	UBERON:0011876	98.84	gold quality
skeletal muscle tissue	UBERON:0001134	98.72	gold quality
deltoid	UBERON:0001476	98.72	gold quality
diaphragm	UBERON:0001103	98.71	gold quality
myocardium	UBERON:0002349	98.56	gold quality
cortical plate	UBERON:0005343	98.54	gold quality
cardiac ventricle	UBERON:0002082	98.49	gold quality
heart left ventricle	UBERON:0002084	98.47	gold quality
tibialis anterior	UBERON:0001385	98.46	gold quality
apex of heart	UBERON:0002098	98.44	gold quality
quadriceps femoris	UBERON:0001377	98.39	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.38	gold quality
muscle tissue	UBERON:0002385	98.23	gold quality
muscle organ	UBERON:0001630	97.78	gold quality
skeletal muscle organ	UBERON:0014892	97.78	gold quality
tongue	UBERON:0001723	97.76	gold quality
gastrocnemius	UBERON:0001388	97.69	gold quality
vena cava	UBERON:0004087	97.60	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.52	gold quality
muscle of leg	UBERON:0001383	97.47	gold quality
cardiac atrium	UBERON:0002081	97.39	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	85.40
E-HCAD-4	yes	65.09
E-HCAD-10	yes	36.63
E-MTAB-6678	yes	16.25
E-CURD-112	yes	8.44
E-ENAD-20	no	581.73
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ATF4	Activation

miRNA regulators (miRDB)

27 targeting BZW2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-496	98.66	69.80	931
HSA-MIR-1267	98.24	69.05	837
HSA-MIR-5087	98.01	69.09	965
HSA-MIR-5007-5P	97.95	64.71	614
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-3121-5P	97.30	66.62	1146
HSA-MIR-6735-3P	96.10	63.81	600
HSA-MIR-5588-3P	94.96	65.59	500
HSA-MIR-3174	94.63	63.64	577

Literature-anchored findings (GeneRIF, showing 14)

• 5MP1 (BZW2) acts as a partial mimic and competitor of eIF5, interfering with the key steps by which eIF5 regulates eIF2 function. (PMID:21745818)
• overexpression of eIF5 and 5MP induces translation of ATF4 (PMID:27325740)
• These data demonstrated that the knockdown of BZW2 suppresses protein phosphorylation in the Akt/mTOR signaling pathway. These observations suggest that BZW2 is upregulated and has a pro-tumor effect in osteosarcoma via activation of the Akt/mTOR signaling pathway and thus is a potential target for gene therapy. (PMID:28791373)
• Data show that eIF5-mimic protein (5MP) represses non-AUG translation by competing with translation initiation factor 5 (eIF5) for the Met-tRNAi-binding factor eIF2. (PMID:28981728)
• results reveal a surprising role for BZW1 and BZW2 in maintaining homeostatic stringency of start codon selection, and taking into account recent biochemical, genetic and structural insights into eukaryotic initiation, suggest a model for BZW1 and BZW2 function (PMID:29470543)
• BZW2 has an oncogenic role in muscle-invasive bladder cancer and serves as a promising target for molecular diagnosis and gene therapy. (PMID:30932331)
• 5MP1 is a novel oncogene that reprograms c-Myc translation in CRC. 5MP1 could be a potential therapeutic target to overcome therapeutic resistance conferred by tumor heterogeneity of CRC. (PMID:31175057)
• BZW2 promotes the malignant progression of colorectal cancer via activating the ERK/MAPK pathway. (PMID:31643092)
• Human oncoprotein 5MP suppresses general and repeat-associated non-AUG translation via eIF3 by a common mechanism. (PMID:34260931)
• miR-140-3p attenuated the tumorigenesis of multiple myeloma via attenuating BZW2. (PMID:35068373)
• BZW2 Inhibition Reduces Colorectal Cancer Growth and Metastasis. (PMID:37067340)
• m6A methyltransferase METTL3 facilitates multiple myeloma cell growth through the m6A modification of BZW2. (PMID:37222774)
• Interactome Analysis Identifies the Role of BZW2 in Promoting Endoplasmic Reticulum-Mitochondria Contact and Mitochondrial Metabolism. (PMID:38154691)
• The Prognostic and Immune Significance of BZW2 in Pan-Cancer and its Relationship with Proliferation and Apoptosis of Cervical Cancer. (PMID:38538258)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bzw2	ENSDARG00000035918
mus_musculus	Bzw2	ENSMUSG00000020547
rattus_norvegicus	Bzw2	ENSRNOG00000005096
drosophila_melanogaster	kra	FBGN0250753

Paralogs (1): BZW1 (ENSG00000082153)

Protein

Protein identifiers

eIF5-mimic protein 1 — Q9Y6E2 (reviewed: Q9Y6E2)

Alternative names: Basic leucine zipper and W2 domain-containing protein 2

All UniProt accessions (9): Q9Y6E2, B5MCE7, B5MCH7, C9JF98, E7EMS9, E7ETZ4, E9PFE3, F8WDX8, Q75MG1

UniProt curated annotations — full annotation on UniProt →

Function. Translation initiation regulator which represses non-AUG initiated translation and repeat-associated non-AUG (RAN) initiated translation by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function. Increases the accuracy of translation initiation by impeding EIF5-dependent translation from non-AUG codons by competing with it for interaction with EIF2S2 within the 43S pre-initiation complex (PIC) in an EIF3C-binding dependent manner.

Subunit / interactions. Interacts with EIF3E. Interacts with EIF2S2. Interacts with EIF3C.

Subcellular location. Cytoplasm.

Similarity. Belongs to the BZW family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y6E2-1	1	yes
Q9Y6E2-2	2

RefSeq proteins (5): NP_001153239, NP_001349646, NP_001349647, NP_001349648, NP_054757* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003307	W2_domain	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR043510	W2_5MP1/2	Domain
IPR051245	eIF5-mimic_regulator	Family
IPR057397	HEAT_5MP1_2	Domain

Pfam: PF02020, PF25504

UniProt features (12 total): modified residue 3, mutagenesis site 2, splice variant 2, chain 1, domain 1, sequence conflict 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6E2-F1	91.18	0.83

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 117, 412, 414

Mutagenesis-validated functional residues (2):

Position	Phenotype
401–411	reduced interaction with eif2s2.
380–391	reduced interaction with eif3c.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 271 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, RORA1_01, AAGCCAT_MIR135A_MIR135B, GOBP_TRANSLATIONAL_INITIATION, TGACCTY_ERR1_Q2, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, LE_EGR2_TARGETS_UP, GROSS_HYPOXIA_VIA_HIF1A_UP, ENGELMANN_CANCER_PROGENITORS_UP, INGRAM_SHH_TARGETS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BROWN_MYELOID_CELL_DEVELOPMENT_DN

GO Biological Process (2): regulation of translational initiation (GO:0006446), regulation of translation (GO:0006417)

GO Molecular Function (2): cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
translational initiation	1
regulation of translation	1
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
cell adhesion molecule binding	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

998 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BZW2	TSPAN13	O95857	602
BZW2	ANKMY2	Q8IV38	587
BZW2	SNX13	Q9Y5W8	560
BZW2	EIF5	P55010	484
BZW2	LRRC72	A6NJI9	417
BZW2	MARK3	P27448	406
BZW2	EIF1	P41567	375
BZW2	C2orf15	Q8WU43	357
BZW2	SMPDL3B	Q92485	354
BZW2	PRR33	A8MZF0	349
BZW2	IPO11	Q9UI26	345
BZW2	POLR3G	O15318	336
BZW2	CRPPA	A4D126	316
BZW2	EIF2S2	P20042	313
BZW2	IMPG2	Q9BZV3	306

IntAct

85 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CD68	TTI1	psi-mi:“MI:0914”(association)	0.640
	PMPCB	psi-mi:“MI:0914”(association)	0.640
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
BZW2	ENDOD1	psi-mi:“MI:0914”(association)	0.640
BZW2	MUL1	psi-mi:“MI:0914”(association)	0.640
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
BZW2	BZW1	psi-mi:“MI:0914”(association)	0.560
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
BZW2	SLC27A2	psi-mi:“MI:0914”(association)	0.530
	XPO1	psi-mi:“MI:0914”(association)	0.530
CD68	TNPO2	psi-mi:“MI:0914”(association)	0.530
TMEM43	ENDOD1	psi-mi:“MI:0914”(association)	0.530
sseJ	AGPS	psi-mi:“MI:0914”(association)	0.460
BZW2	EIF2S2	psi-mi:“MI:0407”(direct interaction)	0.440
	TK2	psi-mi:“MI:0915”(physical association)	0.400
BZW2	rep	psi-mi:“MI:0915”(physical association)	0.370
GSK3B	BZW2	psi-mi:“MI:0915”(physical association)	0.370
HTT	BZW2	psi-mi:“MI:0915”(physical association)	0.370
M	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ORF4	DNM1L	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
TNFSF13B	HEATR1	psi-mi:“MI:0914”(association)	0.350
STX12	NBAS	psi-mi:“MI:0914”(association)	0.350
VIPR2	C15orf61	psi-mi:“MI:0914”(association)	0.350

BioGRID (190): EIF2A (Reconstituted Complex), EIF2B1 (Reconstituted Complex), EIF3A (Reconstituted Complex), GCD11 (Reconstituted Complex), GCD11 (Affinity Capture-Western), SUI2 (Affinity Capture-Western), PRT1 (Affinity Capture-Western), GCD6 (Phenotypic Enhancement), BZW2 (Affinity Capture-Western), BZW2 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), BZW2 (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q1LSX9, A2APV2, A2AT37, A2VD00, A4II09, B0KWH8, B1AZI6, B1MTK1, B2KI97, B3MS75, B3NU52, B4GW22, B4I0W6, B4JM29, B4L2J8, B4NC41, B4Q034, C0H906, C1FXW9, F4IUX6, Q09161, Q16UN6, Q1LUC1, Q1LXC9, Q29G82, Q2L4X1, Q3UYV9, Q4R6R4, Q56A27, Q5R7L4, Q5ZJZ6, Q5ZL42, Q5ZLT7, Q5ZMW3, Q6DDM4, Q6DIE2, Q6GQ80, Q6GQD0, Q6P2Z0, Q6P7P5

Diamond homologs: A3DNI8, C5A2A8, O58312, P38431, P48724, P55010, P55871, P55876, P56329, P59325, Q07205, Q09689, Q1LUC1, Q22918, Q26891, Q2L4X1, Q41969, Q4R6R4, Q54LA1, Q54RF3, Q5R4L0, Q5R7L4, Q5ZL42, Q5ZLT7, Q6P2Z0, Q6P7P5, Q74M98, Q7L1Q6, Q803N9, Q8AVM7, Q8TWR5, Q8U3I5, Q91VK1, Q97W59, Q9C8F1, Q9CQC6, Q9S825, Q9UYR6, Q9VNE2, Q9VXK6

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
BZW2	up-regulates	AKT
BZW2	“up-regulates quantity by expression”	ERK1/2	“transcriptional regulation”
BZW2	“up-regulates activity”	EIF2S1	binding
BZW2	“up-regulates activity”	EIF3A	binding
BZW2	“up-regulates quantity by expression”	ATF4	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
translational initiation	6	24.7×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

63 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1874 predictions. Top by Δscore:

Variant	Effect	Δscore
7:16645501:CCGTA:C	donor_loss	1.0000
7:16645502:CGTA:C	donor_loss	1.0000
7:16645503:GTAC:G	donor_loss	1.0000
7:16645504:TA:T	donor_loss	1.0000
7:16645505:ACC:A	donor_loss	1.0000
7:16645521:T:TA	donor_gain	1.0000
7:16665499:GGG:G	donor_gain	1.0000
7:16665500:GGG:G	donor_gain	1.0000
7:16674406:TTTTA:T	acceptor_loss	1.0000
7:16674407:TTTAG:T	acceptor_loss	1.0000
7:16674408:TTAGA:T	acceptor_loss	1.0000
7:16674409:TA:T	acceptor_loss	1.0000
7:16674410:A:AG	acceptor_gain	1.0000
7:16674410:AGAT:A	acceptor_gain	1.0000
7:16674411:G:GC	acceptor_gain	1.0000
7:16674411:GA:G	acceptor_gain	1.0000
7:16674411:GAT:G	acceptor_gain	1.0000
7:16674411:GATG:G	acceptor_gain	1.0000
7:16674411:GATGA:G	acceptor_gain	1.0000
7:16674571:T:TA	donor_gain	1.0000
7:16674572:G:GA	donor_gain	1.0000
7:16674577:G:GT	donor_gain	1.0000
7:16674580:G:GG	donor_gain	1.0000
7:16674585:CTTG:C	donor_loss	1.0000
7:16674587:TGGTA:T	donor_loss	1.0000
7:16674588:GGT:G	donor_loss	1.0000
7:16674589:G:T	donor_loss	1.0000
7:16674590:T:A	donor_loss	1.0000
7:16674614:T:TA	donor_gain	1.0000
7:16674615:A:AA	donor_gain	1.0000

AlphaMissense

2779 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:16665469:T:A	L9Q	1.000
7:16665474:G:C	G11R	1.000
7:16665475:G:A	G11D	1.000
7:16665486:A:G	K15E	1.000
7:16665488:A:C	K15N	1.000
7:16665488:A:T	K15N	1.000
7:16665492:C:G	R17G	1.000
7:16665492:C:T	R17W	1.000
7:16665493:G:A	R17Q	1.000
7:16665495:A:G	K18E	1.000
7:16665496:A:T	K18I	1.000
7:16665497:A:C	K18N	1.000
7:16665497:A:T	K18N	1.000
7:16665499:G:C	R19T	1.000
7:16665499:G:T	R19M	1.000
7:16665500:G:C	R19S	1.000
7:16665500:G:T	R19S	1.000
7:16674441:T:C	F30L	1.000
7:16674442:T:C	F30S	1.000
7:16674443:C:A	F30L	1.000
7:16674443:C:G	F30L	1.000
7:16674508:T:C	L52P	1.000
7:16674520:G:A	G56D	1.000
7:16674577:G:A	G75D	1.000
7:16674577:G:T	G75V	1.000
7:16681307:G:A	G81E	1.000
7:16681309:G:A	G82R	1.000
7:16681309:G:C	G82R	1.000
7:16681310:G:A	G82E	1.000
7:16682793:T:C	L118P	1.000

dbSNP variants (sampled 300 via entrez): RS1000026781 (7:16644385 A>C), RS1000085091 (7:16684345 T>C), RS1000116058 (7:16704915 G>T), RS1000163335 (7:16645614 T>A,C), RS1000193234 (7:16674180 G>A), RS1000225712 (7:16674004 A>G), RS1000247419 (7:16652881 T>G), RS1000266405 (7:16700531 G>C), RS1000291984 (7:16689128 A>C), RS1000611117 (7:16663984 T>C), RS1000657714 (7:16700097 A>G), RS1000669547 (7:16705486 C>G,T), RS1000669722 (7:16652697 G>C,T), RS1000716720 (7:16705637 A>G), RS1000720389 (7:16658863 A>G)

Disease associations

OMIM: gene MIM:619275 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST001915_18	Alzheimer’s disease (cognitive decline)	6.000000e-11
GCST004599_48	Mean platelet volume	7.000000e-10
GCST004611_72	High light scatter reticulocyte count	5.000000e-26
GCST004611_73	High light scatter reticulocyte count	2.000000e-27
GCST004612_31	High light scatter reticulocyte percentage of red cells	1.000000e-27
GCST004612_32	High light scatter reticulocyte percentage of red cells	5.000000e-29
GCST004619_166	Reticulocyte fraction of red cells	1.000000e-27
GCST004619_169	Reticulocyte fraction of red cells	8.000000e-26
GCST004622_2	Reticulocyte count	9.000000e-24
GCST004622_3	Reticulocyte count	2.000000e-25
GCST004628_90	Immature fraction of reticulocytes	2.000000e-16
GCST006193_97	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-06
GCST006195_86	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	7.000000e-10
GCST008821_11	Neurofibrillary tangles	2.000000e-08
GCST009391_624	Metabolite levels	7.000000e-07
GCST90002385_181	High light scatter reticulocyte count	3.000000e-25
GCST90002385_182	High light scatter reticulocyte count	2.000000e-25
GCST90002386_443	High light scatter reticulocyte percentage of red cells	2.000000e-27
GCST90002386_444	High light scatter reticulocyte percentage of red cells	6.000000e-27
GCST90002387_376	Immature fraction of reticulocytes	1.000000e-11
GCST90002387_377	Immature fraction of reticulocytes	9.000000e-17
GCST90002390_239	Mean corpuscular hemoglobin	1.000000e-13
GCST90002392_713	Mean corpuscular volume	4.000000e-09
GCST90002395_682	Mean platelet volume	9.000000e-28
GCST90002404_280	Red cell distribution width	6.000000e-16
GCST90002405_221	Reticulocyte count	2.000000e-23
GCST90002405_222	Reticulocyte count	3.000000e-19
GCST90002406_240	Reticulocyte fraction of red cells	6.000000e-26
GCST90002406_241	Reticulocyte fraction of red cells	2.000000e-21

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0006797	neurofibrillary tangles measurement
EFO:0010506	kynurenic acid measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066321 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.78	Kd	16.66	nM	CHEMBL3752910
7.78	ED50	16.66	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147967: Binding affinity to human BZW2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0167	uM

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Ozone	increases abundance, affects expression, affects cotreatment, increases oxidation	3
Valproic Acid	affects expression, decreases methylation, increases expression	3
bisphenol A	decreases expression, increases expression	2
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects expression	2
Tretinoin	decreases expression	2
FR900359	increases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pirinixic acid	affects binding, decreases expression, increases activity	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression	1
azoxystrobin	increases expression	1
2-palmitoylglycerol	increases expression	1
ICG 001	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Antimycin A	increases expression	1
Caffeine	increases phosphorylation	1
Catechin	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Estradiol	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Ivermectin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651009	Binding	Binding affinity to human BZW2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1SM	HAP1 BZW2 (-) 1	Cancer cell line	Male
CVCL_E1SN	HAP1 BZW2 (-) 2	Cancer cell line	Male
CVCL_E1SP	HAP1 BZW2 (-) 3	Cancer cell line	Male
CVCL_E1SQ	HAP1 BZW2 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.