CYBC1

Summary

CYBC1 (cytochrome b-245 chaperone 1, HGNC:28672) is a protein-coding gene on chromosome 17q25.3, encoding Cytochrome b-245 chaperone 1 (Q9BQA9). Functions as a chaperone necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer.

Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in autosomal recessive chronic granulomatous disease 5.

Source: NCBI Gene 79415 — RefSeq curated summary.

At a glance

• Gene–disease (curated): granulomatous disease, chronic, autosomal recessive, 5 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 197 total — 4 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 46
• MANE Select transcript: NM_001033046

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28672
Approved symbol	CYBC1
Name	cytochrome b-245 chaperone 1
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC4368, FLJ90469, Eros
Ensembl gene	ENSG00000178927
Ensembl biotype	protein_coding
OMIM	618334
Entrez	79415

Gene structure

Transcript identifiers

Ensembl transcripts: 75 — 49 protein_coding, 13 nonsense_mediated_decay, 10 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000306645, ENST00000342572, ENST00000434650, ENST00000437807, ENST00000536759, ENST00000577436, ENST00000577471, ENST00000577696, ENST00000577707, ENST00000577732, ENST00000577834, ENST00000577888, ENST00000578064, ENST00000578895, ENST00000578913, ENST00000578919, ENST00000578941, ENST00000579444, ENST00000579751, ENST00000580560, ENST00000581196, ENST00000582395, ENST00000582438, ENST00000582456, ENST00000582545, ENST00000582608, ENST00000582725, ENST00000583359, ENST00000583617, ENST00000583778, ENST00000584024, ENST00000584408, ENST00000584503, ENST00000584791, ENST00000584891, ENST00000585044, ENST00000585064, ENST00000585080, ENST00000585115, ENST00000698818, ENST00000698819, ENST00000698820, ENST00000698821, ENST00000698822, ENST00000698823, ENST00000698824, ENST00000698825, ENST00000698826, ENST00000698827, ENST00000698828, ENST00000698829, ENST00000851068, ENST00000851069, ENST00000851070, ENST00000852066, ENST00000852067, ENST00000852068, ENST00000852069, ENST00000852070, ENST00000852071, ENST00000852072, ENST00000852073, ENST00000928818, ENST00000928819, ENST00000928820, ENST00000928821, ENST00000928822, ENST00000950064, ENST00000950065, ENST00000950066, ENST00000950067, ENST00000950068, ENST00000950069, ENST00000950070, ENST00000950071

RefSeq mRNA: 7 — MANE Select: NM_001033046 NM_001033046, NM_001100407, NM_001100408, NM_001193653, NM_001193654, NM_001193655, NM_001193657

CCDS: CCDS32776, CCDS45817

Canonical transcript exons

ENST00000306645 — 7 exons

Exon	Start	End
ENSE00003849877	82450700	82450752
ENSE00003974872	82444447	82444591
ENSE00003974875	82447580	82447621
ENSE00003974877	82445864	82445960
ENSE00003974883	82449170	82449292
ENSE00003974886	82446623	82446696
ENSE00004283639	82442586	82444124

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 98.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.7763 / max 267.7466, expressed in 1816 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168987	27.7763	1816

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.39	gold quality
spleen	UBERON:0002106	98.21	gold quality
blood	UBERON:0000178	97.90	gold quality
monocyte	CL:0000576	97.59	gold quality
leukocyte	CL:0000738	97.50	gold quality
vermiform appendix	UBERON:0001154	97.49	gold quality
mononuclear cell	CL:0000842	97.48	gold quality
gall bladder	UBERON:0002110	97.27	gold quality
lymph node	UBERON:0000029	97.23	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.80	gold quality
stromal cell of endometrium	CL:0002255	94.99	gold quality
apex of heart	UBERON:0002098	94.95	gold quality
mucosa of transverse colon	UBERON:0004991	94.74	gold quality
left uterine tube	UBERON:0001303	94.73	gold quality
upper lobe of left lung	UBERON:0008952	94.70	gold quality
right lobe of liver	UBERON:0001114	94.67	gold quality
endocervix	UBERON:0000458	94.57	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.52	gold quality
metanephros cortex	UBERON:0010533	94.50	gold quality
bone marrow cell	CL:0002092	94.48	gold quality
right ovary	UBERON:0002118	94.41	gold quality
body of stomach	UBERON:0001161	94.25	gold quality
right coronary artery	UBERON:0001625	94.18	gold quality
descending thoracic aorta	UBERON:0002345	94.18	gold quality
nerve	UBERON:0001021	94.15	gold quality
tibial nerve	UBERON:0001323	94.15	gold quality
adenohypophysis	UBERON:0002196	94.14	gold quality
ganglionic eminence	UBERON:0004023	94.10	gold quality
right uterine tube	UBERON:0001302	94.01	gold quality
right lobe of thyroid gland	UBERON:0001119	93.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6386	no	1217.29
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting CYBC1, 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-4514	99.99	67.10	1870
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-1914-5P	97.83	66.21	807
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-3928-3P	97.61	66.53	1096
HSA-MIR-663B	97.40	62.91	664
HSA-MIR-1227-3P	97.36	66.94	834
HSA-MIR-134-3P	96.83	66.22	1001
HSA-MIR-4296	96.35	63.55	1233

Literature-anchored findings (GeneRIF, showing 4)

• this study shows that the function of EROS is fully conserved between human and mouse, and that homozygous mutations in EROS underlie a novel sixth cause of chronic granulomatous disease (PMID:30312704)
• CYBC1 deficiency results in chronic granulomatous disease characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction. (PMID:30361506)
• these results indicated that Eros acts as a chaperone not only for NADPH oxidase, but also for P2X7, and contributes to the innate immune reaction (PMID:31862710)
• HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function. (PMID:34280579)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cybc1	ENSDARG00000071414
mus_musculus	Cybc1	ENSMUSG00000039294
rattus_norvegicus	Cybc1	ENSRNOG00000036666

Protein

Protein identifiers

Cytochrome b-245 chaperone 1 — Q9BQA9 (reviewed: Q9BQA9)

Alternative names: Essential for reactive oxygen species protein

All UniProt accessions (23): A0A0U1RQN8, A0A8V8TM96, A0A8V8TMA2, A0A8V8TMR4, A0A8V8TMR8, A0A8V8TNQ9, A0A8V8TNR4, A0A8V8TP26, A0A8V8TP29, Q9BQA9, H0Y2X1, J3KS78, J3KSB6, J3KSJ5, J3KTF4, J3KTI1, J3QKS6, J3QKZ6, J3QLB7, J3QQQ4, J3QRG5, J3QRZ2, J3QS53

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a chaperone necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer. Controls the phagocyte respiratory burst and is essential for innate immunity.

Subunit / interactions. Interacts with CYBB; CYBC1 may act as a chaperone stabilizing Cytochrome b-245 heterodimer.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in macrophages, neutrophils and monocytes.

Disease relevance. Granulomatous disease, chronic, autosomal recessive, 5 (CGD5) [MIM:618935] A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients. The disease is caused by variants affecting the gene represented in this entry.

Induction. In macrophages, expression is induced after treatment with IFNG or a combination of IFNG and Salmonella Tiphimurium.

Similarity. Belongs to the CYBC1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BQA9-1	1	yes
Q9BQA9-2	2

RefSeq proteins (7): NP_001028218, NP_001093877, NP_001093878, NP_001180582, NP_001180583, NP_001180584, NP_001180586 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027846	Cybc1	Family

Pfam: PF15169

UniProt features (5 total): chain 1, transmembrane region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8KEI	ELECTRON MICROSCOPY	3.56

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQA9-F1	83.65	0.50

Antibody-complex structures (SAbDab): 1 — 8KEI

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): 168

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 219 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GGGTGGRR_PAX4_03, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, TGCTGAY_UNKNOWN, GOBP_RESPIRATORY_BURST, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_IMMUNE_EFFECTOR_PROCESS, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, MCCLUNG_COCAIN_REWARD_4WK, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GNF2_CD53, STEIN_ESRRA_TARGETS_DN, CHEN_METABOLIC_SYNDROM_NETWORK

GO Biological Process (3): innate immune response (GO:0045087), respiratory burst after phagocytosis (GO:0045728), immune system process (GO:0002376)

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
immune response	1
defense response to symbiont	1
respiratory burst involved in defense response	1
biological_process	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

334 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYBC1	NCF4	Q15080	606
CYBC1	CYBA	P13498	571
CYBC1	NCF2	P19878	571
CYBC1	NCF1	P14598	541
CYBC1	CYBB	P04839	477
CYBC1	TMEM209	Q96SK2	433
CYBC1	TMEM126A	Q9H061	432
CYBC1	VMA12	Q8N511	349
CYBC1	DHRS7	Q9Y394	348
CYBC1	TMEM38A	Q9H6F2	322
CYBC1	ANKMY1	Q9P2S6	316
CYBC1	ZNF227	Q86WZ6	312
CYBC1	TMEM41A	Q96HV5	294
CYBC1	XKR9	Q5GH70	284
CYBC1	PLPP7	Q8NBV4	270
CYBC1	DNAJC21	Q5F1R6	270

IntAct

217 interactions, top by confidence:

A	B	Type	Score
CYBC1	KASH5	psi-mi:“MI:0915”(physical association)	0.720
KASH5	CYBC1	psi-mi:“MI:0915”(physical association)	0.720
NRAC	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	MTIF3	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	KIR2DL3	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	TMX2	psi-mi:“MI:0915”(physical association)	0.560
BET1	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	CPLX4	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	SHISA4	psi-mi:“MI:0915”(physical association)	0.560
PLP1	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	GJA8	psi-mi:“MI:0915”(physical association)	0.560
STX2	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	MFF	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	LXN	psi-mi:“MI:0915”(physical association)	0.560
APCDD1L	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
P2RX1	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
TMPRSS2	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
CYBC1	NOX3	psi-mi:“MI:0915”(physical association)	0.560
AHNAK2	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
AQP8	CYBC1	psi-mi:“MI:0915”(physical association)	0.560
CPLX4	CYBC1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (94): CCDC155 (Two-hybrid), C17orf62 (Affinity Capture-MS), C17orf62 (Affinity Capture-MS), C17orf62 (Two-hybrid), CREB3L1 (Two-hybrid), C17orf62 (Affinity Capture-MS), C17orf62 (Affinity Capture-MS), C17orf62 (Affinity Capture-MS), C17orf62 (Affinity Capture-MS), C17orf62 (Two-hybrid), C17orf62 (Affinity Capture-MS), C17orf62 (Two-hybrid), C17orf62 (Two-hybrid), C17orf62 (Two-hybrid), C17orf62 (Two-hybrid)

ESM2 similar proteins: A2RV80, A4FUD4, A4FV75, A5A6S6, A6ZIQ8, B2ZXD5, B5X1G3, B7ZAQ6, O00258, O00623, O75031, P0CG08, P60570, Q1H5D2, Q3SZ26, Q3SZM3, Q3TMP8, Q3TYS2, Q3UBZ5, Q4R7G8, Q5BIM9, Q5EAQ1, Q5F448, Q5R6K7, Q5RBY5, Q5REE3, Q5ZKG8, Q6AXN4, Q6AXU7, Q6AYA6, Q6DDW6, Q6DRM0, Q6P6S5, Q801N6, Q8BS95, Q8K0D7, Q8L7N4, Q8TCT6, Q8VCB1, Q8VCM5

Diamond homologs: Q0D2D7, Q3SZM3, Q3TYS2, Q5HZS2, Q6AYA6, Q6DGA7, Q9BQA9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	66
Likely benign	93
Benign	21

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
2032798	NM_001033046.4(CYBC1):c.10C>T (p.Gln4Ter)	Pathogenic
2800887	NM_001033046.4(CYBC1):c.273del (p.Leu92fs)	Pathogenic
3243132	NC_000017.10:g.(?80405436)(80407130_?)del	Pathogenic
932315	NM_001033046.4(CYBC1):c.6C>G (p.Tyr2Ter)	Pathogenic
2179272	NM_001033046.4(CYBC1):c.201+1G>A	Likely pathogenic
2786575	NM_001033046.4(CYBC1):c.202-2A>C	Likely pathogenic

SpliceAI

2330 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82444120:CATCA:C	acceptor_gain	1.0000
17:82444136:C:T	acceptor_gain	1.0000
17:82444587:CACCA:C	acceptor_gain	1.0000
17:82444588:ACCA:A	acceptor_gain	1.0000
17:82444589:CCA:C	acceptor_gain	1.0000
17:82444589:CCAC:C	acceptor_gain	1.0000
17:82444590:CA:C	acceptor_gain	1.0000
17:82444590:CAC:C	acceptor_gain	1.0000
17:82444592:C:CC	acceptor_gain	1.0000
17:82445859:CTCA:C	donor_loss	1.0000
17:82445860:TCACC:T	donor_loss	1.0000
17:82445861:CAC:C	donor_loss	1.0000
17:82445862:A:AC	donor_gain	1.0000
17:82445862:AC:A	donor_gain	1.0000
17:82445863:C:CC	donor_gain	1.0000
17:82445863:CC:C	donor_gain	1.0000
17:82450768:T:TA	donor_gain	1.0000
17:82441262:AACAG:A	donor_loss	0.9900
17:82441264:CAGGT:C	donor_loss	0.9900
17:82441266:GGT:G	donor_loss	0.9900
17:82441267:GTGA:G	donor_loss	0.9900
17:82441268:T:G	donor_loss	0.9900
17:82441737:T:A	acceptor_gain	0.9900
17:82441740:A:AG	acceptor_gain	0.9900
17:82441741:A:G	acceptor_gain	0.9900
17:82444122:TCA:T	acceptor_gain	0.9900
17:82444123:CA:C	acceptor_gain	0.9900
17:82444123:CAC:C	acceptor_gain	0.9900
17:82444125:C:CC	acceptor_gain	0.9900
17:82444139:C:CT	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000002347 (17:82445773 G>A), RS1000279644 (17:82450773 G>A,T), RS1000799250 (17:82451669 G>A,C,T), RS1000962013 (17:82451747 A>C), RS1001074144 (17:82446543 C>G,T), RS1001415292 (17:82451963 C>T), RS1001678608 (17:82444759 A>G), RS1002159752 (17:82452326 A>G), RS1002230593 (17:82449837 A>C), RS1002374983 (17:82442749 C>G,T), RS1002427117 (17:82442912 A>G), RS1002718054 (17:82446967 G>A,T), RS1002972480 (17:82449585 T>C,G), RS1003312549 (17:82447808 A>C), RS1003435021 (17:82443907 G>A)

Disease associations

OMIM: gene MIM:618334 | disease phenotypes: MIM:618935

GenCC curated gene-disease

Disease	Classification	Inheritance
granulomatous disease, chronic, autosomal recessive, 5	Strong	Autosomal recessive
chronic granulomatous disease	Supportive	Autosomal recessive

Mondo (2): granulomatous disease, chronic, autosomal recessive, 5 (MONDO:0030066), chronic granulomatous disease (MONDO:0018305)

Orphanet (0):

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000100	Nephrotic syndrome
HP:0000155	Oral ulcer
HP:0000230	Gingivitis
HP:0000246	Sinusitis
HP:0000388	Otitis media
HP:0000964	Eczematoid dermatitis
HP:0000992	Cutaneous photosensitivity
HP:0001034	Hypermelanotic macule
HP:0001287	Meningitis
HP:0001433	Hepatosplenomegaly
HP:0001735	Acute pancreatitis
HP:0001744	Splenomegaly
HP:0001874	Abnormality of neutrophils
HP:0001878	Hemolytic anemia
HP:0001888	Decreased total lymphocyte count
HP:0001945	Fever
HP:0002021	Pyloric stenosis
HP:0002024	Malabsorption
HP:0002202	Pleural effusion
HP:0002205	Recurrent respiratory infections
HP:0002206	Pulmonary fibrosis
HP:0002240	Hepatomegaly
HP:0002575	Tracheoesophageal fistula
HP:0002716	Lymphadenopathy
HP:0002719	Recurrent infections
HP:0002840	Lymphadenitis
HP:0002923	Rheumatoid factor positive
HP:0003203	Decreased neutrophil oxidative burst
HP:0004322	Short stature

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000189_2	Protein quantitative trait loci	4.000000e-07
GCST002643_7	Follicular lymphoma	2.000000e-07

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006105	Granulomatous Disease, Chronic	C15.378.553.774.535; C16.320.322.233; C20.673.774.535; C23.550.291.500.423

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	3
Nickel	increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
glycidyl methacrylate	decreases expression	1
cobaltous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
cupric chloride	increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Atrazine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Demecolcine	decreases expression	1
Estradiol	increases expression	1
Ivermectin	decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	decreases expression	1
Genistein	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00001317	PHASE4	COMPLETED	A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood
NCT00023192	PHASE3	COMPLETED	Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care
NCT00033982	PHASE3	COMPLETED	Posaconazole to Treat Invasive Fungal Infections
NCT00006417	PHASE2	COMPLETED	Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease
NCT00578643	PHASE2	COMPLETED	Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease
NCT00799071	PHASE2	COMPLETED	Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD)
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT01998633	PHASE2	COMPLETED	Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT03547830	PHASE2	UNKNOWN	Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients
NCT03983837	PHASE2	COMPLETED	Elemental Diet for Treatment of Inflammatory Bowel Disease in Patients With Chronic Granulomatous Disease
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00001476	PHASE1	COMPLETED	Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up
NCT00001515	PHASE1	COMPLETED	Diagnostic Effectiveness of Virtual Bronchoscopy
NCT00001765	PHASE1	COMPLETED	Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT02609932	PHASE1	COMPLETED	Effect of IFN-γ on Innate Immune Cells
NCT05189925	PHASE1	RECRUITING	NADPH Oxidase Correction in mRNA-transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)
NCT03984890	PHASE2/PHASE3	COMPLETED	Vitamin D3 For CGD Patients With BCGosis/Itis
NCT00325078	PHASE1/PHASE2	TERMINATED	Infliximab to Treat Crohn’S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease
NCT00564759	PHASE1/PHASE2	UNKNOWN	Gene Therapy for Chronic Granulomatous Disease
NCT00778882	PHASE1/PHASE2	WITHDRAWN	Gene Therapy for Chronic Granulomatous Disease in Korea
NCT00927134	PHASE1/PHASE2	COMPLETED	Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children
NCT01338675	PHASE1/PHASE2	UNKNOWN	Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD)
NCT01852370	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
NCT02282904	PHASE1/PHASE2	TERMINATED	Haploidentical Transplant for People With Chronic Granulomatous Disease Using Post Transplant Cyclophosphamide
NCT03080480	PHASE1/PHASE2	TERMINATED	Pioglitazone Therapy for Chronic Granulomatous Disease
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT05104723	PHASE1/PHASE2	COMPLETED	Safety and Efficacy of Tofacitinib for Chronic Granulomatous Disease With Inflammatory Complications
NCT05463133	PHASE1/PHASE2	RECRUITING	Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease (CGD) With an Alemtuzumab, Busulfan and TBI-based Conditioning Regimen Combined With Cytokine (IL-6, +/- IFN-gamma) Antagonists
NCT06253507	PHASE1/PHASE2	ENROLLING_BY_INVITATION	pCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)
NCT06325709	PHASE1/PHASE2	RECRUITING	Base Editing for Mutation Repair in Hematopoietic Stem & Progenitor Cells for X-Linked Chronic Granulomatous Disease
NCT06559176	PHASE1/PHASE2	ENROLLING_BY_INVITATION	A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
NCT07113743	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Part B- G1X-CGD (Lentiviral Vector Transduced CD34+ Cells) in Patients With X-Linked Chronic Granulomatous Disease
NCT00394316	EARLY_PHASE1	TERMINATED	Gene Therapy for Chronic Granulomatous Disease
NCT03910452	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Haploidentical Transplant for People With Chronic Granulomatous Disease (CGD) Using Alemtuzumab, Busulfan and TBI With Post-Transplant Cyclophosphamide
NCT03921515	EARLY_PHASE1	WITHDRAWN	Skin Immunity Sample Collection Involving Blisters and Biopsies
NCT04136028	EARLY_PHASE1	COMPLETED	IL-1 Receptor Inhibitor for Granulomatous Complications in Patients With Chronic Granulomatous Disease
NCT05600907	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Study to Assess the Use of JSP191 in Matched Unrelated Donor Transplantation for Chronic Granulomatous Disease (CGD)