JAGN1

Summary

JAGN1 (jagunal vesicle mediated transporter 1, HGNC:26926) is a protein-coding gene on chromosome 3p25.3, encoding Protein jagunal homolog 1 (Q8N5M9). Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function.

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia.

Source: NCBI Gene 84522 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (Definitive, GenCC)
• Clinical variants (ClinVar): 168 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_032492

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26926
Approved symbol	JAGN1
Name	jagunal vesicle mediated transporter 1
Location	3p25.3
Locus type	gene with protein product
Status	Approved
Aliases	GL009, FLJ14602
Ensembl gene	ENSG00000171135
Ensembl biotype	protein_coding
OMIM	616012
Entrez	84522

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000489724, ENST00000647897, ENST00000915552

RefSeq mRNA: 2 — MANE Select: NM_032492 NM_001363890, NM_032492

CCDS: CCDS2588

Canonical transcript exons

ENST00000647897 — 2 exons

Exon	Start	End
ENSE00001317937	9892915	9894349
ENSE00001897838	9890610	9890811

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 97.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.4588 / max 142.4192, expressed in 1820 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35246	25.2020	1816
35247	8.1075	1757
35245	1.4029	1040
35248	1.2952	748
35249	0.4513	187

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	97.91	gold quality
tibialis anterior	UBERON:0001385	95.52	gold quality
right adrenal gland	UBERON:0001233	95.14	gold quality
right adrenal gland cortex	UBERON:0035827	94.97	gold quality
kidney epithelium	UBERON:0004819	94.26	gold quality
left adrenal gland	UBERON:0001234	94.23	gold quality
left adrenal gland cortex	UBERON:0035825	94.01	gold quality
adrenal cortex	UBERON:0001235	93.94	gold quality
cartilage tissue	UBERON:0002418	93.62	gold quality
mucosa of transverse colon	UBERON:0004991	93.61	gold quality
upper arm skin	UBERON:0004263	93.60	gold quality
body of pancreas	UBERON:0001150	93.51	gold quality
islet of Langerhans	UBERON:0000006	93.38	gold quality
adrenal gland	UBERON:0002369	92.76	gold quality
pancreas	UBERON:0001264	92.71	gold quality
deltoid	UBERON:0001476	92.69	gold quality
body of stomach	UBERON:0001161	91.96	gold quality
oocyte	CL:0000023	91.94	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.86	gold quality
colonic mucosa	UBERON:0000317	91.85	gold quality
gingival epithelium	UBERON:0001949	91.61	gold quality
gastrocnemius	UBERON:0001388	91.59	gold quality
rectum	UBERON:0001052	91.44	gold quality
right lobe of liver	UBERON:0001114	91.21	gold quality
duodenum	UBERON:0002114	91.16	gold quality
stromal cell of endometrium	CL:0002255	91.04	gold quality
liver	UBERON:0002107	90.98	gold quality
peritoneum	UBERON:0002358	90.94	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.94	gold quality
omental fat pad	UBERON:0010414	90.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting JAGN1, 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-432-3P	100.00	67.86	705
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-1287-3P	99.63	66.93	492
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-605-5P	98.79	68.24	1161
HSA-MIR-3938	98.72	66.07	834
HSA-MIR-219A-2-3P	98.62	68.78	797
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-4252	98.45	66.37	987

Literature-anchored findings (GeneRIF, showing 7)

• JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils. (PMID:25129144)
• Data directly identify Jagn1 (JAGN1 in humans) as a new regulator of neutrophil function in microbial pathogenesis. (PMID:25129145)
• JAGN1 regulates neutrophil myeloperoxidase mRNA and protein levels. Myeloperoxidase is required for fungal killing by neutrophil extracellular traps. (PMID:30106500)
• JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting? (PMID:32783652)
• A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans. (PMID:32930709)
• Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells. (PMID:33206996)
• JAGN1 mutation with distinct clinical features; two case reports and literature review. (PMID:37120535)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	jagn1b	ENSDARG00000014995
danio_rerio	jagn1a	ENSDARG00000041071
mus_musculus	Jagn1	ENSMUSG00000051256
rattus_norvegicus	Jagn1	ENSRNOG00000009175
drosophila_melanogaster	jagn	FBGN0037374
caenorhabditis_elegans	K05C4.2	WBGENE00010579

Protein

Protein identifiers

Protein jagunal homolog 1 — Q8N5M9 (reviewed: Q8N5M9)

All UniProt accessions (2): A0A3B3ITE9, Q8N5M9

UniProt curated annotations — full annotation on UniProt →

Function. Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils.

Subunit / interactions. Interacts with COPA, COPB2 and COPG2.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitously expressed.

Disease relevance. Neutropenia, severe congenital 6, autosomal recessive (SCN6) [MIM:616022] A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the jagunal family.

RefSeq proteins (2): NP_001350819, NP_115881* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009787	Jagunal	Family

Pfam: PF07086

UniProt features (30 total): helix 8, topological domain 5, sequence variant 5, sequence conflict 4, transmembrane region 4, turn 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6WVD	X-RAY DIFFRACTION	2.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5M9-F1	91.43	0.79

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 (1): 3

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 216 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_INSULIN_SECRETION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_NEGATIVE_REGULATION_OF_PEPTIDE_SECRETION, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY

GO Biological Process (15): neutrophil mediated immunity (GO:0002446), exocytosis (GO:0006887), endoplasmic reticulum organization (GO:0007029), response to glucose (GO:0009749), vesicle-mediated transport (GO:0016192), insulin secretion (GO:0030073), neutrophil differentiation (GO:0030223), response to endoplasmic reticulum stress (GO:0034976), granulocyte colony-stimulating factor signaling pathway (GO:0038158), defense response to fungus (GO:0050832), negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179), insulin metabolic process (GO:1901142), neutrophil migration (GO:1990266), immune system process (GO:0002376), protein transport (GO:0015031)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
myeloid leukocyte mediated immunity	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
organelle organization	1
endomembrane system organization	1
response to hexose	1
cellular process	1
protein secretion	1
peptide hormone secretion	1
granulocyte differentiation	1
cellular response to stress	1
cytokine-mediated signaling pathway	1
defense response	1
response to fungus	1
insulin secretion involved in cellular response to glucose stimulus	1
negative regulation of insulin secretion	1
negative regulation of response to stimulus	1
regulation of insulin secretion involved in cellular response to glucose stimulus	1
protein metabolic process	1
granulocyte migration	1
biological_process	1
intracellular protein localization	1
establishment of protein localization	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

630 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JAGN1	HAX1	O00165	658
JAGN1	VPS45	Q9NRW7	588
JAGN1	SLC37A4	O43826	571
JAGN1	G6PC3	Q9BUM1	554
JAGN1	ELANE	P08246	539
JAGN1	VPS13B	Q7Z7G8	501
JAGN1	CSF3R	Q99062	479
JAGN1	DNAJC21	Q5F1R6	465
JAGN1	SBDS	Q9Y3A5	459
JAGN1	SRP54	P13624	454
JAGN1	GFI1	Q99684	447
JAGN1	PRRT3	Q5FWE3	447
JAGN1	GNB1L	Q9BYB4	446
JAGN1	LAMTOR2	Q9Y2Q5	440
JAGN1	TATDN2	Q93075	418

IntAct

395 interactions, top by confidence:

A	B	Type	Score
KASH5	JAGN1	psi-mi:“MI:0915”(physical association)	0.720
JAGN1	KASH5	psi-mi:“MI:0915”(physical association)	0.720
CREB3L1	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
CLEC7A	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	CREB3L1	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	CLEC7A	psi-mi:“MI:0915”(physical association)	0.560
CGRRF1	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	FCRL4	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	GPR37L1	psi-mi:“MI:0915”(physical association)	0.560
STX7	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	SLC34A2	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	ELOVL4	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	CLEC4D	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	BTNL9	psi-mi:“MI:0915”(physical association)	0.560
SEC22B	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
FDFT1	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
CDIPT	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
VMA12	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
CALHM6	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	CGRRF1	psi-mi:“MI:0915”(physical association)	0.560
ERG28	JAGN1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (175): JAGN1 (Two-hybrid), CREB3L1 (Two-hybrid), CCDC155 (Two-hybrid), DDOST (Co-fractionation), JAGN1 (Co-fractionation), JAGN1 (Co-fractionation), SEC61A1 (Co-fractionation), VDAC2 (Co-fractionation), VDAC3 (Co-fractionation), JAGN1 (Proximity Label-MS), JAGN1 (Proximity Label-MS), JAGN1 (Proximity Label-MS), JAGN1 (Two-hybrid), JAGN1 (Affinity Capture-MS), JAGN1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNC3, A9RA88, B0CMA4, F1RAX4, O15503, O42901, O60503, P34535, P38837, P51830, P53898, P98999, Q08755, Q0U2R3, Q0V9G6, Q10287, Q28GL3, Q2NKY9, Q3T0S0, Q3UF64, Q4KM64, Q4W9G3, Q5F3W2, Q5R687, Q5RAG4, Q5U4Q2, Q5WNI9, Q5XJX0, Q5XKN4, Q5ZMT9, Q66J27, Q6DF80, Q6NTV1, Q6NVQ1, Q6NZ21, Q6PQZ3, Q75EY7, Q80UA9, Q8AV61, Q8BGI3

Diamond homologs: P0C655, Q297K8, Q2NKY9, Q4KM64, Q5XJX0, Q5XKN4, Q6NVQ1, Q7K1V5, Q8N5M9, Q9XUU9, Q1L864, Q5M7C7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 126 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane	7	46.9×	3e-08

GO biological processes:

GO term	Partners	Fold	FDR
vesicle fusion	8	44.6×	5e-09
obsolete vesicle docking	6	42.6×	2e-06
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	5	15.6×	3e-03
endoplasmic reticulum to Golgi vesicle-mediated transport	8	10.1×	3e-04
intracellular protein transport	9	5.4×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	87
Likely benign	49
Benign	11

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
156116	NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	Pathogenic
190481	NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter)	Pathogenic
1176145	NM_032492.4(JAGN1):c.330_331del (p.Ser111fs)	Likely pathogenic
4076146	NM_032492.4(JAGN1):c.361G>T (p.Glu121Ter)	Likely pathogenic

SpliceAI

367 predictions. Top by Δscore:

Variant	Effect	Δscore
3:9892913:A:AG	acceptor_gain	1.0000
3:9892914:G:GG	acceptor_gain	1.0000
3:9892914:GT:G	acceptor_gain	1.0000
3:9890807:A:G	donor_gain	0.9900
3:9890811:GGTAT:G	donor_loss	0.9900
3:9890812:G:GC	donor_loss	0.9900
3:9892913:AGTGT:A	acceptor_gain	0.9900
3:9892914:GTGT:G	acceptor_gain	0.9900
3:9892914:GTGTG:G	acceptor_gain	0.9900
3:9892909:CCACA:C	acceptor_loss	0.9800
3:9892910:CACAG:C	acceptor_loss	0.9800
3:9892911:ACAG:A	acceptor_loss	0.9800
3:9892912:CA:C	acceptor_loss	0.9800
3:9892913:A:AT	acceptor_loss	0.9800
3:9892913:AGT:A	acceptor_gain	0.9800
3:9892914:G:A	acceptor_loss	0.9800
3:9892914:GTG:G	acceptor_gain	0.9800
3:9890819:G:GG	donor_gain	0.9700
3:9890604:G:GT	donor_gain	0.9600
3:9890818:A:AG	donor_gain	0.9600
3:9890825:C:T	donor_gain	0.9600
3:9890809:G:GT	donor_gain	0.9300
3:9890812:G:GG	donor_gain	0.9300
3:9892905:T:TA	acceptor_gain	0.9300
3:9890809:GAG:G	donor_gain	0.9200
3:9892900:T:A	acceptor_loss	0.9000
3:9892905:T:A	acceptor_loss	0.8900
3:9893029:G:GA	donor_gain	0.8800
3:9891153:G:GT	donor_gain	0.8700
3:9893108:A:AG	acceptor_gain	0.8600

AlphaMissense

1200 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:9893045:T:A	W74R	0.998
3:9893045:T:C	W74R	0.998
3:9893066:A:C	S81R	0.997
3:9893068:C:A	S81R	0.997
3:9893068:C:G	S81R	0.997
3:9893047:G:C	W74C	0.996
3:9893047:G:T	W74C	0.996
3:9893141:A:C	S106R	0.996
3:9893143:C:A	S106R	0.996
3:9893143:C:G	S106R	0.996
3:9893178:G:A	G118D	0.995
3:9893331:T:C	L169P	0.995
3:9893342:T:A	W173R	0.993
3:9893342:T:C	W173R	0.993
3:9890771:T:C	F17L	0.992
3:9890773:T:A	F17L	0.992
3:9890773:T:G	F17L	0.992
3:9893166:C:G	P114R	0.992
3:9893163:C:A	A113D	0.991
3:9893177:G:C	G118R	0.991
3:9892927:G:C	K34N	0.990
3:9892927:G:T	K34N	0.990
3:9892967:T:A	W48R	0.989
3:9892967:T:C	W48R	0.989
3:9893076:C:G	P84R	0.989
3:9893180:A:C	S119R	0.989
3:9893182:C:A	S119R	0.989
3:9893182:C:G	S119R	0.989
3:9890762:G:T	G14C	0.988
3:9893147:G:A	G108R	0.988

dbSNP variants (sampled 300 via entrez): RS1000072298 (3:9893314 G>A,C), RS1000273522 (3:9894271 C>T), RS1000915696 (3:9890481 G>A,T), RS1001781236 (3:9891796 A>G), RS1001960856 (3:9890509 A>C,G,T), RS1002345174 (3:9890840 C>A,T), RS1002733025 (3:9892055 G>A), RS1004035332 (3:9888954 C>T), RS1004066437 (3:9888651 A>C), RS1004625804 (3:9892094 G>C), RS1004998354 (3:9892346 T>TG), RS1005311253 (3:9890883 G>A), RS1007006240 (3:9890469 CAA>C), RS1007006326 (3:9891789 T>G), RS1007818134 (3:9890613 T>C)

Disease associations

OMIM: gene MIM:616012 | disease phenotypes: MIM:616022, MIM:202700, MIM:600795, MIM:614696

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Definitive	Autosomal recessive

Mondo (3): autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (MONDO:0014456), severe congenital neutropenia (MONDO:0018542), frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MONDO:0010936)

Orphanet (5): Severe congenital neutropenia due to JAGN1 deficiency (Orphanet:423384), Severe congenital neutropenia (Orphanet:42738), Behavioral variant of frontotemporal dementia (Orphanet:275864), Frontotemporal dementia (Orphanet:282), Amyotrophic lateral sclerosis (Orphanet:803)

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000403	Recurrent otitis media
HP:0001508	Failure to thrive
HP:0001875	Decreased total neutrophil count
HP:0002205	Recurrent respiratory infections
HP:0002718	Recurrent bacterial infections
HP:0003593	Infantile onset
HP:0004322	Short stature
HP:0033606	Bone marrow maturation arrest

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C579991	Chromosome 3-Linked Frontotemporal Dementia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression	2
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	2
bisphenol F	increases expression	1
alpha phellandrene	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases methylation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
bisphenol AF	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, increases expression	1
Diethylhexyl Phthalate	increases abundance, increases methylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases methylation, increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01859637	PHASE4	TERMINATED	Immunogenicity, Safety, and Efficacy of Zarzio®/Filgrastim HEXAL® in Patients With Severe Chronic Neutropenia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00909584	PHASE2	TERMINATED	Study of Ezatiostat (Telintra Tablets) for Treatment of Severe Chronic Neutropenia
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT04844177	PHASE2	UNKNOWN	Total Lymphoid Irradiation Pre-HSCT in Severe Congenital Neutropenia
NCT00295971	PHASE1	COMPLETED	Donor Stem Cell Transplant in Treating Young Patients With Myelodysplastic Syndrome, Leukemia, Bone Marrow Failure Syndrome, or Severe Immunodeficiency Disease
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01852370	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening