NINJ2

Summary

NINJ2 (ninjurin 2, HGNC:7825) is a protein-coding gene on chromosome 12p13.33, encoding Ninjurin-2 (Q9NZG7). Its role in unclear.

The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury.

Source: NCBI Gene 4815 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_016533

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7825
Approved symbol	NINJ2
Name	ninjurin 2
Location	12p13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171840
Ensembl biotype	protein_coding
OMIM	607297
Entrez	4815

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000305108, ENST00000397265, ENST00000433832, ENST00000537416, ENST00000542920, ENST00000662884, ENST00000857849, ENST00000857850

RefSeq mRNA: 4 — MANE Select: NM_016533 NM_001294345, NM_001294346, NM_001367996, NM_016533

CCDS: CCDS73418, CCDS76499, CCDS8505

Canonical transcript exons

ENST00000305108 — 4 exons

Exon	Start	End
ENSE00001160484	565217	565401
ENSE00001607882	663328	663445
ENSE00001952806	564296	564681
ENSE00003627587	565950	566178

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 93.13.

FANTOM5 (CAGE): breadth broad, TPM avg 6.4825 / max 413.1576, expressed in 907 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128893	3.5016	725
128895	0.7006	146
128889	0.4507	160
128894	0.4140	110
128890	0.3997	162
128897	0.2721	79
128898	0.1872	62
128896	0.1323	82
128901	0.1049	44
128900	0.1041	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	93.13	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.50	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.11	gold quality
spinal cord	UBERON:0002240	90.30	gold quality
monocyte	CL:0000576	89.62	gold quality
mononuclear cell	CL:0000842	89.19	gold quality
leukocyte	CL:0000738	89.10	gold quality
granulocyte	CL:0000094	87.76	gold quality
bone marrow	UBERON:0002371	87.73	gold quality
gastrocnemius	UBERON:0001388	87.68	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.56	gold quality
muscle of leg	UBERON:0001383	87.11	gold quality
bone element	UBERON:0001474	86.27	gold quality
apex of heart	UBERON:0002098	86.17	gold quality
right lung	UBERON:0002167	84.86	gold quality
corpus callosum	UBERON:0002336	84.55	gold quality
upper lobe of left lung	UBERON:0008952	83.75	gold quality
subcutaneous adipose tissue	UBERON:0002190	83.52	gold quality
tibia	UBERON:0000979	83.37	gold quality
substantia nigra	UBERON:0002038	83.25	gold quality
omental fat pad	UBERON:0010414	83.07	gold quality
upper lobe of lung	UBERON:0008948	83.01	gold quality
peritoneum	UBERON:0002358	82.96	gold quality
adipose tissue of abdominal region	UBERON:0007808	82.66	gold quality
muscle organ	UBERON:0001630	82.60	gold quality
trabecular bone tissue	UBERON:0002483	82.45	gold quality
endothelial cell	CL:0000115	82.22	silver quality
midbrain	UBERON:0001891	82.21	gold quality
right lobe of liver	UBERON:0001114	82.20	gold quality
bone marrow cell	CL:0002092	82.08	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.70
E-GEOD-124858	no	28.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting NINJ2, 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-4803	99.98	71.99	3117
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-10397-3P	97.78	65.70	601
HSA-MIR-197-5P	97.23	68.10	596
HSA-MIR-134-3P	96.83	66.22	1001
HSA-MIR-764	94.16	64.85	656

Literature-anchored findings (GeneRIF, showing 23)

• There is a significant association between rs11833579 site polymorphism of the NINJ2 gene and risk for stroke in Han Chinese. (PMID:20957003)
• 12p13 SNPs rs11833579 and rs12425791 within NINJ2 gene do not seem to be associated with ischemic stroke in Chinese Han population (PMID:21376321)
• polymorphisms of the vascular susceptibility gene NINJ2 were associated with risk of Alzheimer’s disease (PMID:21674003)
• A new genetic variant rs10849373 located in the first intron of the NINJ2 gene confers risk of ischemic stroke in Chinese Han subjects. (PMID:21722921)
• In this meta-analysis, NINJ2 single-nucleotide polymorphism (SNP) rs12425791 is significantly associated with ischemic stroke in an East Asian (but not Chinese Han) population, of which A alleles increase the risk of ischemic stroke. (PMID:22297388)
• Data suggest that the gene NINJ2 rs11833579 A/A or G/A genotype may bring forward the onset age of first-ever ischemic stroke without increasing silent cerebrovascular lesions prior to the stroke. (PMID:22429733)
• This meta-analysis suggest that rs12425791 is relative to ischemic stroke risk under dominant model in Asian population, but not for rs11833579. (PMID:22795341)
• Risk of ischemic stroke was higher especially when the carriers of rs11833579 AA NINJ2 genotype were smokers. (PMID:24664524)
• Data shows that common and rare variants in the NINJ2 region were nominally associated with incident ischemic stroke patients. (PMID:24959832)
• the AA genotype carriers had significantly increased NINJ2 mRNA expression levels in the Chinese population, suggesting that the rs3809263 G > A polymorphism is a functional single nucleotide polymorphism and a biomarker for risk of large artery atherosclerotic stroke. (PMID:26687183)
• our study suggests that ninjurin2 is a novel regulator of endothelia inflammation and activation through TLR4 signaling pathways, and these data provided new insights into the mechanisms between NINJ2 and atherosclerosis. (PMID:28431986)
• NINJ2 is a pro-survival factor in human neuronal cells. miR-764 regulates NINJ2 expression and neuron functions. (PMID:30318119)
• The relationship between the prognosis of children with acute arterial stroke and polymorphisms of CDKN2B, HDAC9, NINJ2, NAA25 genes. (PMID:30656483)
• NINJ2 Gene Polymorphisms and Susceptibility to Ischemic Stroke: An Updated Meta-Analysis. (PMID:31258083)
• The current research suggests contribution of NINJ2 in the pathogenesis of multiple sclerosis. (PMID:31292852)
• Role of NINJ2 as a risk locus for ischemic stroke in Iranian population. (PMID:31372770)
• Ninjurin2 overexpression promotes glioma cell growth. (PMID:31794427)
• Associations Between Two Single-Nucleotide Polymorphisms in NINJ2 Gene and Risk of Psychiatric Disorders. (PMID:31873837)
• Assessment of Association between NINJ2 Polymorphisms and Suicide Attempts in an Iranian Population. (PMID:32436199)
• Functional rare variant in a C/EBP beta binding site in NINJ2 gene increases the risk of coronary artery disease. (PMID:34897030)
• Interdependency of NINJ2 gene expression and polymorphism with susceptibility and response to interferon beta in patients with multiple sclerosis. (PMID:35912872)
• Involvement of NINJ2 Protein in Inflammation and Blood-Brain Barrier Transmigration of Monocytes in Multiple Sclerosis. (PMID:36360183)
• Effects of Ninjurin 2 polymorphisms on susceptibility to coronary heart disease. (PMID:38512812)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ninj2	ENSDARG00000079824
mus_musculus	Ninj2	ENSMUSG00000041377
rattus_norvegicus	Ninj2	ENSRNOG00000010282
drosophila_melanogaster	NijC	FBGN0038079

Paralogs (1): NINJ1 (ENSG00000131669)

Protein

Protein identifiers

Ninjurin-2 — Q9NZG7 (reviewed: Q9NZG7)

Alternative names: Nerve injury-induced protein 2

All UniProt accessions (5): Q9NZG7, A0A590UJR9, B4DNS9, F5H3L1, F8WBZ3

UniProt curated annotations — full annotation on UniProt →

Function. Its role in unclear. In contrast to NINJ1 paralog, does not mediate plasma membrane rupture (cytolysis) downstream of necroptotic and pyroptotic programmed cell death. While it is able to oligomerize and form filaments, filaments are curved toward the intracellular space, preventing circularization to mediate plasma membrane rupture. May act as a homophilic transmembrane adhesion molecule involved in nerve regeneration. Promotes axonal growth.

Subunit / interactions. Homooligomer; in response to stimuli, homooligomerizes into filaments. In contrast to NINJ1, the filament is curved toward the intracellular space, preventing its circularization on a relatively flat membrane to mediate plasma membrane rupture: curvature is caused by cholesterol-binding at the cytoplasmic leaflet.

Subcellular location. Cell membrane.

Tissue specificity. Widely expressed. In adult, higher expression in the bone marrow and peripheral blood lymphocytes, medium in the lung, lymph node, thyroid, uterus, thymus, spleen, prostate and skeletal muscle, lower in the liver, placenta, brain, heart and kidney. In embryo, higher expression in the thymus, heart and liver, lower in the spleen, lung, brain and kidney.

Domain organisation. Composed of 4 alpha helices: 2 hydrophobic transmembrane regions (alpha3 and alpha4) and 2 alpha helices (alpha1 and alpha2). Alpha1 and alpha2 feature one hydrophobic side and a hydrophilic side. In contrast to NINJ1, does not disrupt membrane integrity. NINJ2 filaments are curved toward the intracellular space due to cholesterol-binding, preventing circularization and ability to mediate plasma membrane rupture.

Induction. By nerve injury; in Schwann cells.

Similarity. Belongs to the ninjurin family.

RefSeq proteins (4): NP_001281274, NP_001281275, NP_001354925, NP_057617* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007007	Ninjurin	Family

Pfam: PF04923

UniProt features (23 total): mutagenesis site 8, helix 4, topological domain 3, region of interest 3, transmembrane region 2, chain 1, binding site 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8SZB	ELECTRON MICROSCOPY	3.07

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZG7-F1	66.70	0.00

Functional residue map

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

Ligand- & substrate-binding residues (1): 103

Mutagenesis-validated functional residues (8):

Position	Phenotype
62–68	in mutant m9 + w99a; induces ability to mediate plama membrane rupture; when associated with g-79, f-86, a-99, f-103, l-
79	in mutant m9 + w99a; induces ability to mediate plama membrane rupture; when associated with 62-f–v-68, f-86, a-99, f-1
86	promotes slight ability to mediate plasma membrane rupture. in mutant m9 + w99a; induces ability to mediate plama membra
99	in mutant m9 + w99a; induces ability to mediate plama membrane rupture; when associated with 62-f–v-68, g-79, f-86, f-1
103	promotes ability to mediate plasma membrane rupture. in mutant m9 + w99a; induces ability to mediate plama membrane rupt
107	in mutant m9 + w99a; induces ability to mediate plama membrane rupture; when associated with 62-f–v-68, g-79, f-86, a-9
110	promotes ability to mediate plasma membrane rupture. in mutant m9 + w99a; induces ability to mediate plama membrane rupt
114	promotes ability to mediate plasma membrane rupture.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 132 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_REGENERATION, CHANDRAN_METASTASIS_DN, GOBP_CELL_CELL_ADHESION, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_TISSUE_REGENERATION, GOBP_NEURON_CELL_CELL_ADHESION, PU1_Q6, HAHTOLA_SEZARY_SYNDROM_UP, RGAGGAARY_PU1_Q6, GOBP_CYTOLYSIS, TGGAAA_NFAT_Q4_01, HARRIS_BRAIN_CANCER_PROGENITORS

GO Biological Process (4): cell adhesion (GO:0007155), neuron cell-cell adhesion (GO:0007158), nervous system development (GO:0007399), tissue regeneration (GO:0042246)

GO Molecular Function (2): cholesterol binding (GO:0015485), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
cell-cell adhesion	1
system development	1
regeneration	1
developmental growth	1
sterol binding	1
alcohol binding	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NINJ2	PRKCH	P24723	639
NINJ2	PDE4D	Q08499	595
NINJ2	ALOX5AP	P20292	586
NINJ2	EPB41L3	Q9Y2J2	486
NINJ2	TMEM114	B3SHH9	485
NINJ2	STK32B	Q9NY57	467
NINJ2	WNK1	P54963	465
NINJ2	FLRT3	Q9NZU0	456
NINJ2	FNDC4	Q9H6D8	452
NINJ2	C8orf82	Q6P1X6	446
NINJ2	CCND2	P30279	445
NINJ2	APBA3	O96018	444
NINJ2	ZFHX3	Q15911	439
NINJ2	LRTM2	Q8N967	435
NINJ2	LRGUK	Q96M69	434

IntAct

222 interactions, top by confidence:

A	B	Type	Score
CD69	NINJ2	psi-mi:“MI:0915”(physical association)	0.600
BCL2L13	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
CLEC7A	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	CLEC7A	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	BCL2L13	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	ELOVL5	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	SLC66A1	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	LYPD5	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	RNASEK	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	IL3RA	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	SCN3B	psi-mi:“MI:0915”(physical association)	0.560
STX2	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
STX1A	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
LDLRAD1	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
CLEC17A	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
TMPRSS2	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
CREB3L1	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
IFNGR1	NINJ2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (81): NINJ2 (Two-hybrid), BCL2L13 (Two-hybrid), CLEC7A (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid), NINJ2 (Two-hybrid)

ESM2 similar proteins: A0A0R4IDX9, A0A2C9VBV6, A2ARJ3, A7T1N0, A7Y2X0, A8Y2U2, O12977, O17386, O35119, O70131, O76689, O80739, P31662, P52166, P70617, P79100, Q05005, Q08469, Q0WMJ8, Q3UP23, Q57UM0, Q5JK32, Q5R9C2, Q5W0B7, Q69RI8, Q6H4R6, Q6NPT7, Q6ZUK4, Q75G84, Q84MS3, Q84MS4, Q8BG16, Q8BJI1, Q8MPP0, Q90X07, Q92982, Q94KB1, Q94KB9, Q9FI00, Q9FY75

Diamond homologs: A0A0R4IDX9, O70131, P70617, Q8MPP0, Q92982, Q9JHE8, Q9JL89, Q9NZG7, Q9VVT9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2047 predictions. Top by Δscore:

Variant	Effect	Δscore
12:566057:G:GA	donor_gain	1.0000
12:566174:CCAGG:C	acceptor_gain	1.0000
12:566175:CAGG:C	acceptor_gain	1.0000
12:566175:CAGGC:C	acceptor_gain	1.0000
12:566179:C:CC	acceptor_gain	1.0000
12:566181:G:C	acceptor_gain	1.0000
12:597596:T:TA	donor_gain	1.0000
12:663321:AACTT:A	donor_loss	1.0000
12:663324:TTACT:T	donor_loss	1.0000
12:663325:TA:T	donor_loss	1.0000
12:663326:A:AC	donor_gain	1.0000
12:663327:C:CC	donor_gain	1.0000
12:565315:C:CT	donor_gain	0.9900
12:566042:C:CA	donor_gain	0.9900
12:566048:TCCAG:T	donor_gain	0.9900
12:566049:CCAGC:C	donor_gain	0.9900
12:566176:AGG:A	acceptor_gain	0.9900
12:566177:GG:G	acceptor_gain	0.9900
12:566179:CTGT:C	acceptor_loss	0.9900
12:566180:T:A	acceptor_loss	0.9900
12:597579:TAAA:T	donor_gain	0.9900
12:597580:AAAA:A	donor_gain	0.9900
12:600058:ACT:A	donor_gain	0.9900
12:600059:CTC:C	donor_gain	0.9900
12:663327:CT:C	donor_gain	0.9900
12:565246:T:TA	donor_gain	0.9800
12:566181:G:GC	acceptor_gain	0.9800
12:600053:CAT:C	donor_gain	0.9800
12:600059:CTCCT:C	donor_gain	0.9800
12:600060:TCCTT:T	donor_gain	0.9800

AlphaMissense

918 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:565999:G:C	S71R	0.986
12:565999:G:T	S71R	0.986
12:566001:T:G	S71R	0.986
12:566116:G:C	S32R	0.983
12:566116:G:T	S32R	0.983
12:566118:T:G	S32R	0.983
12:566104:G:C	S36R	0.982
12:566104:G:T	S36R	0.982
12:566106:T:G	S36R	0.982
12:565970:C:T	G81D	0.978
12:566119:C:A	K31N	0.976
12:566119:C:G	K31N	0.976
12:565971:C:G	G81R	0.974
12:566122:C:A	K30N	0.971
12:566122:C:G	K30N	0.971
12:566063:A:G	L50P	0.966
12:566074:G:C	N46K	0.964
12:566074:G:T	N46K	0.964
12:566112:C:G	A34P	0.964
12:565307:A:C	N119K	0.961
12:565307:A:T	N119K	0.961
12:566121:T:C	K31E	0.957
12:566090:G:T	A41D	0.954
12:566130:C:G	A28P	0.952
12:566073:C:G	A47P	0.951
12:566095:G:C	D39E	0.951
12:566095:G:T	D39E	0.951
12:565991:A:G	L74P	0.947
12:566111:G:T	A34E	0.947
12:565362:A:G	L101P	0.946

dbSNP variants (sampled 300 via entrez): RS1000147184 (12:604422 G>A), RS1000160075 (12:572929 T>C), RS1000175100 (12:591084 T>TTATA), RS1000308021 (12:652846 C>A,T), RS1000315096 (12:647320 A>G), RS1000334468 (12:572054 C>T), RS1000371241 (12:585270 G>C), RS1000401864 (12:659596 G>A), RS1000443144 (12:571825 G>T), RS1000450525 (12:572262 C>G,T), RS1000458625 (12:591376 A>T), RS1000470463 (12:611084 A>G), RS1000478958 (12:603417 A>G), RS1000511235 (12:596457 C>G,T), RS1000536689 (12:645386 T>C)

Disease associations

OMIM: gene MIM:607297 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000379_1	Stroke	1.000000e-09
GCST000379_2	Stroke	2.000000e-09
GCST000379_3	Stroke	8.000000e-10
GCST000379_4	Stroke	1.000000e-09
GCST004068_66	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	6.000000e-06
GCST004603_100	Platelet count	6.000000e-15
GCST004607_39	Plateletcrit	1.000000e-10
GCST004608_173	Granulocyte percentage of myeloid white cells	6.000000e-10
GCST004609_189	Monocyte percentage of white cells	8.000000e-09
GCST004616_89	Platelet distribution width	9.000000e-21
GCST004625_116	Monocyte count	1.000000e-09
GCST004627_22	Lymphocyte count	2.000000e-10
GCST005352_25	Paclitaxel disposition in epithelial ovarian cancer	4.000000e-06
GCST005951_70	Body mass index	1.000000e-11
GCST005991_27	Platelet count	9.000000e-11
GCST012117_4	Rheumatic heart disease	1.000000e-06
GCST90002388_414	Lymphocyte count	7.000000e-20
GCST90002393_454	Monocyte count	5.000000e-23
GCST90002394_358	Monocyte percentage of white cells	7.000000e-20
GCST90002395_110	Mean platelet volume	6.000000e-16
GCST90002399_325	Neutrophil percentage of white cells	5.000000e-12
GCST90002400_491	Plateletcrit	1.000000e-19
GCST90002401_223	Platelet distribution width	9.000000e-45
GCST90002402_405	Platelet count	3.000000e-31
GCST90002407_346	White blood cell count	4.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0007984	platelet component distribution width
EFO:0005091	monocyte count
EFO:0004587	lymphocyte count
EFO:0004340	body mass index
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Valproic Acid	increases methylation, decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation, decreases methylation, affects cotreatment	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Diuron	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2DZ	HAP1 NINJ2 (-) 1	Cancer cell line	Male
CVCL_E2E0	HAP1 NINJ2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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