DOP1A

Summary

DOP1A (DOP1 leucine zipper like protein A, HGNC:21194) is a protein-coding gene on chromosome 6q14.1, encoding Protein DOP1A (Q5JWR5). May be involved in protein traffic between late Golgi and early endosomes.

Predicted to be involved in Golgi to endosome transport and endoplasmic reticulum organization. Predicted to be located in Golgi membrane. Predicted to be active in endosome and trans-Golgi network.

Source: NCBI Gene 23033 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
• Clinical variants (ClinVar): 379 total — 4 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_015018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21194
Approved symbol	DOP1A
Name	DOP1 leucine zipper like protein A
Location	6q14.1
Locus type	gene with protein product
Status	Approved
Aliases	dJ202D23.2
Ensembl gene	ENSG00000083097
Ensembl biotype	protein_coding
OMIM	616823
Entrez	23033

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000237163, ENST00000349129, ENST00000369739, ENST00000481979, ENST00000484282, ENST00000493541, ENST00000604380

RefSeq mRNA: 11 — MANE Select: NM_015018 NM_001199942, NM_001385856, NM_001385857, NM_001385858, NM_001385859, NM_001385860, NM_001385861, NM_001385863, NM_001385864, NM_001385865, NM_015018

CCDS: CCDS4996, CCDS64467

Canonical transcript exons

ENST00000349129 — 39 exons

Exon	Start	End
ENSE00000759957	83122863	83122982
ENSE00000759958	83124705	83124819
ENSE00000759959	83125500	83125733
ENSE00000759960	83128887	83129508
ENSE00000759961	83130123	83130397
ENSE00000759963	83134187	83134287
ENSE00000759965	83135619	83135878
ENSE00000798067	83137173	83139162
ENSE00001012700	83108910	83109080
ENSE00001012701	83100705	83100886
ENSE00001178064	83167862	83168471
ENSE00001372800	83121930	83122050
ENSE00001373425	83110125	83110314
ENSE00001376046	83125166	83125195
ENSE00001376306	83113323	83113421
ENSE00001379252	83096731	83096823
ENSE00001450762	83096925	83097115
ENSE00003481068	83140221	83140403
ENSE00003504835	83120683	83120791
ENSE00003509773	83157182	83157318
ENSE00003515100	83118888	83118987
ENSE00003521983	83145524	83145658
ENSE00003527239	83162790	83162919
ENSE00003531708	83153894	83154043
ENSE00003541981	83153511	83153620
ENSE00003552544	83155951	83156103
ENSE00003558874	83159796	83159960
ENSE00003571262	83158567	83158622
ENSE00003576252	83147236	83147291
ENSE00003583512	83151593	83151659
ENSE00003592449	83148759	83148863
ENSE00003592957	83132176	83132328
ENSE00003598642	83119748	83119857
ENSE00003629637	83152288	83152367
ENSE00003645733	83140000	83140111
ENSE00003667114	83151883	83152027
ENSE00003673452	83141921	83142046
ENSE00003681342	83154180	83154241
ENSE00003919056	83067671	83067779

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 92.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1696 / max 171.8830, expressed in 1695 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68768	11.5799	1687
68767	0.5897	325

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	92.58	gold quality
middle temporal gyrus	UBERON:0002771	91.27	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.08	gold quality
secondary oocyte	CL:0000655	90.61	gold quality
cerebellar hemisphere	UBERON:0002245	90.59	gold quality
cerebellar cortex	UBERON:0002129	90.51	gold quality
endothelial cell	CL:0000115	90.00	silver quality
tendon	UBERON:0000043	88.99	gold quality
cerebellum	UBERON:0002037	88.78	gold quality
right frontal lobe	UBERON:0002810	88.08	gold quality
cortical plate	UBERON:0005343	87.80	gold quality
right uterine tube	UBERON:0001302	87.61	gold quality
skin of abdomen	UBERON:0001416	87.30	gold quality
Brodmann (1909) area 23	UBERON:0013554	87.30	gold quality
skin of leg	UBERON:0001511	87.21	gold quality
adenohypophysis	UBERON:0002196	87.12	gold quality
mucosa of stomach	UBERON:0001199	87.04	gold quality
pituitary gland	UBERON:0000007	86.86	gold quality
body of pancreas	UBERON:0001150	86.71	gold quality
corpus callosum	UBERON:0002336	86.70	gold quality
left ovary	UBERON:0002119	86.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.30	gold quality
adrenal tissue	UBERON:0018303	85.92	gold quality
oocyte	CL:0000023	85.86	gold quality
left lobe of thyroid gland	UBERON:0001120	85.81	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.80	gold quality
right lobe of thyroid gland	UBERON:0001119	85.69	gold quality
zone of skin	UBERON:0000014	85.65	gold quality
thyroid gland	UBERON:0002046	85.64	gold quality
right ovary	UBERON:0002118	85.64	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting DOP1A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-9851-3P	99.63	69.68	1110

Literature-anchored findings (GeneRIF, showing 1)

• Assessment of REST-N50 and DOPEY1v2 may prove useful in diagnostic blood tests of breast cancer. REST-N50 shows a high potential as a blood biomarker for evaluating the effectiveness of therapy in the neoadjuvant setting. (PMID:25424701)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dop1a	ENSDARG00000019962
mus_musculus	Dop1a	ENSMUSG00000034973
rattus_norvegicus	Dop1a	ENSRNOG00000022847
drosophila_melanogaster	CG15099	FBGN0034400
caenorhabditis_elegans	pad-1	WBGENE00003905

Paralogs (1): DOP1B (ENSG00000142197)

Protein

Protein identifiers

Protein DOP1A — Q5JWR5 (reviewed: Q5JWR5)

All UniProt accessions (3): Q5JWR5, Q5TA12, S4R3Y1

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in protein traffic between late Golgi and early endosomes.

Subcellular location. Golgi apparatus membrane.

Similarity. Belongs to the DOP1 family.

RefSeq proteins (11): NP_001186871, NP_001372785, NP_001372786, NP_001372787, NP_001372788, NP_001372789, NP_001372790, NP_001372792, NP_001372793, NP_001372794, NP_055833* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007249	DOP1_N	Domain
IPR040314	DOP1	Family
IPR056457	DOP1_C	Domain
IPR056458	TPR_DOP1_M	Domain
IPR056459	TPR_DOP1	Domain

Pfam: PF04118, PF24597, PF24598, PF24601

UniProt features (13 total): region of interest 4, compositionally biased region 4, sequence variant 3, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JWR5-F1	67.63	0.16

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): 1266

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): BROWNE_HCMV_INFECTION_6HR_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, TGIF_01, GOBP_GOLGI_TO_ENDOSOME_TRANSPORT, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, PU1_Q6, AACTTT_UNKNOWN, RGAGGAARY_PU1_Q6, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_CYTOSOLIC_TRANSPORT, GOCC_ENDOLYSOSOME, GOCC_ORGANELLE_SUBCOMPARTMENT, DAZARD_UV_RESPONSE_CLUSTER_G6, GOBP_GOLGI_VESICLE_TRANSPORT

GO Biological Process (3): Golgi to endosome transport (GO:0006895), protein transport (GO:0015031), endoplasmic reticulum organization (GO:0007029)

GO Molecular Function (0):

GO Cellular Component (7): Golgi membrane (GO:0000139), endosome (GO:0005768), Golgi-associated vesicle (GO:0005798), trans-Golgi network (GO:0005802), cytosol (GO:0005829), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	2
cytoplasmic vesicle	2
cytoplasm	2
cellular anatomical structure	2
post-Golgi vesicle-mediated transport	1
intercellular transport	1
cytosolic transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
organelle organization	1
endomembrane system organization	1
Golgi apparatus	1
bounding membrane of organelle	1
Golgi apparatus subcompartment	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DOP1A	MON2	Q7Z3U7	877
DOP1A	NEO1	Q92859	595
DOP1A	ATP9B	O43861	509
DOP1A	ATP9A	O75110	504
DOP1A	SNX3	O60493	452
DOP1A	WASHC4	Q2M389	445
DOP1A	EFHD2	Q96C19	430
DOP1A	CZIB	Q9NWV4	410
DOP1A	GARRE1	O15063	408
DOP1A	NBPF26	B4DH59	400
DOP1A	A0A087WTG0	A0A087WTG0	398
DOP1A	RSAD1	Q9HA92	398
DOP1A	DPH5	Q9H2P9	396
DOP1A	A6NLF2	A6NLF2	391
DOP1A	MAG	P20916	391

IntAct

40 interactions, top by confidence:

A	B	Type	Score
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
DOP1A	MON2	psi-mi:“MI:0915”(physical association)	0.680
MON2	DOP1A	psi-mi:“MI:0915”(physical association)	0.680
MON2	DOP1A	psi-mi:“MI:0407”(direct interaction)	0.680
DOP1A	MON2	psi-mi:“MI:0403”(colocalization)	0.680
DOP1A	MON2	psi-mi:“MI:0914”(association)	0.680
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
KLC2	DOP1A	psi-mi:“MI:0915”(physical association)	0.590
KLC2	DOP1A	psi-mi:“MI:0914”(association)	0.590
KLC2	DOP1A	psi-mi:“MI:0407”(direct interaction)	0.590
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
	DOP1A	psi-mi:“MI:0915”(physical association)	0.540
	DOP1A	psi-mi:“MI:0407”(direct interaction)	0.540
DOP1A	KIF5B	psi-mi:“MI:0914”(association)	0.500
DOP1A	KIF5B	psi-mi:“MI:0915”(physical association)	0.500
DOP1A	ACTC1	psi-mi:“MI:0915”(physical association)	0.400
	DOP1A	psi-mi:“MI:0915”(physical association)	0.400
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350

BioGRID (27): DOPEY1 (Affinity Capture-MS), DOPEY1 (Affinity Capture-MS), DOPEY1 (Affinity Capture-RNA), DOPEY1 (Affinity Capture-RNA), DOPEY1 (Proximity Label-MS), DOPEY1 (Proximity Label-MS), DOPEY1 (Affinity Capture-MS), DOPEY1 (Affinity Capture-MS), DOPEY1 (Affinity Capture-MS), DOPEY1 (Affinity Capture-MS), DOPEY1 (Affinity Capture-MS), DOPEY1 (Affinity Capture-MS), DOPEY1 (Proximity Label-MS), DOPEY1 (Proximity Label-MS), DOPEY1 (Proximity Label-MS)

ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A0JMA8, A1A535, A1A5P5, A1L1K1, A2AVJ5, A7YDW0, B3MJV4, B4MV81, O00443, O08576, O17237, Q0V9V7, Q12923, Q14D04, Q17QK1, Q1LYM3, Q2NKQ1, Q3UGY8, Q59EK9, Q5EB20, Q5JWR5, Q5PQS3, Q5R565, Q5RAY1, Q5TH69, Q5U245, Q5U3W3, Q5XHG1, Q61194, Q61QK6, Q64512, Q6ING4, Q6MZQ0, Q6ZUJ8, Q7Z3E5, Q803Q4, Q80U12, Q8BPQ7

Diamond homologs: A1ZBE8, Q292H2, Q5JWR5, Q9C0Z4, Q3UHQ6, Q642P2, Q8BL99, Q9Y3R5, Q9Y7B3, Q5WNI9, Q9XW10

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 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
G2/M Checkpoints	5	44.8×	8e-07
Cell Cycle Checkpoints	5	29.5×	5e-06
RHO GTPase Effectors	6	27.2×	7e-07
Signaling by Rho GTPases	8	18.2×	1e-07
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	8	17.9×	1e-07
Membrane Trafficking	6	14.8×	1e-05
Vesicle-mediated transport	6	13.9×	2e-05
Cell Cycle	5	12.0×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	3
Uncertain significance	274
Likely benign	48
Benign	7

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
133321	NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)	Pathogenic
1929387	NM_015599.3(PGM3):c.1432C>T (p.Gln478Ter)	Pathogenic
2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	Pathogenic
2693235	NM_015599.3(PGM3):c.1500AGA[1] (p.Glu501del)	Pathogenic
133316	NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln)	Likely pathogenic
1696177	NM_015599.3(PGM3):c.1539+2T>C	Likely pathogenic
4762862	NM_015599.3(PGM3):c.1366-2A>T	Likely pathogenic

SpliceAI

6851 predictions. Top by Δscore:

Variant	Effect	Δscore
6:83097117:T:G	donor_loss	1.0000
6:83108934:A:AG	acceptor_gain	1.0000
6:83109971:G:GG	donor_gain	1.0000
6:83110260:G:GT	donor_gain	1.0000
6:83113121:G:GT	donor_gain	1.0000
6:83118882:TTTCA:T	acceptor_loss	1.0000
6:83118883:TTCA:T	acceptor_loss	1.0000
6:83118884:TCA:T	acceptor_loss	1.0000
6:83118885:CAGGC:C	acceptor_loss	1.0000
6:83118886:A:AG	acceptor_gain	1.0000
6:83118886:AGGC:A	acceptor_loss	1.0000
6:83118887:G:GA	acceptor_gain	1.0000
6:83118887:G:GC	acceptor_loss	1.0000
6:83118887:GGCC:G	acceptor_gain	1.0000
6:83119742:AT:A	acceptor_gain	1.0000
6:83119742:ATG:A	acceptor_gain	1.0000
6:83119743:T:G	acceptor_gain	1.0000
6:83119743:T:TA	acceptor_gain	1.0000
6:83119744:G:A	acceptor_gain	1.0000
6:83120677:TTAAA:T	acceptor_loss	1.0000
6:83120678:TAAA:T	acceptor_loss	1.0000
6:83120679:AAAG:A	acceptor_gain	1.0000
6:83120680:AAGGC:A	acceptor_loss	1.0000
6:83120681:A:G	acceptor_gain	1.0000
6:83120681:AGGCA:A	acceptor_loss	1.0000
6:83120740:GATC:G	donor_gain	1.0000
6:83120787:GCTAG:G	donor_gain	1.0000
6:83120788:C:G	donor_gain	1.0000
6:83120789:TAGG:T	donor_loss	1.0000
6:83120790:AGGT:A	donor_loss	1.0000

AlphaMissense

16285 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:83097051:T:C	L25P	1.000
6:83097077:T:A	W34R	1.000
6:83097077:T:C	W34R	1.000
6:83097079:G:C	W34C	1.000
6:83097079:G:T	W34C	1.000
6:83097090:T:A	I38K	1.000
6:83097099:T:C	L41P	1.000
6:83097108:T:C	L44P	1.000
6:83100766:T:C	L67P	1.000
6:83100802:T:A	V79D	1.000
6:83100817:T:A	L84H	1.000
6:83100817:T:C	L84P	1.000
6:83100885:A:C	S107R	1.000
6:83108910:T:A	S107R	1.000
6:83108910:T:G	S107R	1.000
6:83108966:T:C	L126P	1.000
6:83109008:T:C	L140P	1.000
6:83109020:T:C	L144P	1.000
6:83109032:T:C	L148P	1.000
6:83109044:T:C	L152P	1.000
6:83110187:T:C	L185P	1.000
6:83110189:T:A	W186R	1.000
6:83110189:T:C	W186R	1.000
6:83113329:G:C	A230P	1.000
6:83113381:T:C	L247P	1.000
6:83113387:T:C	L249P	1.000
6:83118940:T:C	L278P	1.000
6:83118946:G:C	R280T	1.000
6:83118946:G:T	R280M	1.000
6:83118948:G:C	D281H	1.000

dbSNP variants (sampled 300 via entrez): RS1000017406 (6:83097860 A>G), RS1000068798 (6:83144614 A>G), RS1000076158 (6:83160129 G>A), RS1000230862 (6:83088099 C>G,T), RS1000237186 (6:83082304 A>C), RS1000253321 (6:83166621 T>C), RS1000289732 (6:83082599 T>C), RS1000325119 (6:83159495 T>C), RS1000350903 (6:83159048 A>G), RS1000388858 (6:83068412 C>T), RS1000433863 (6:83166499 T>C,G), RS1000435815 (6:83074002 G>A), RS1000453940 (6:83117592 A>G), RS1000464415 (6:83139333 G>A), RS1000490765 (6:83112721 C>G,T)

Disease associations

OMIM: gene MIM:616823 | disease phenotypes: MIM:216920, MIM:615816, MIM:147060

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (4): immunodeficiency 23 (MONDO:0014353), hyper-IgE syndrome (MONDO:0018037), severe combined immunodeficiency (MONDO:0015974), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (3): PGM3-CDG (Orphanet:443811), Hyper-IgE syndrome (Orphanet:331223), Severe combined immunodeficiency (Orphanet:183660)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0004430	Severe combined immunodeficiency

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016511	Severe Combined Immunodeficiency	C16.320.798.750; C16.614.815; C18.452.284.800; C20.673.795.750
C565684	Combined Inflammatory and Immunologic Defect (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bufotalin	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
butyraldehyde	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Catechin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00220766	PHASE3	COMPLETED	Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients
NCT01420627	PHASE3	COMPLETED	EZN-2279 in Patients With ADA-SCID
NCT06940570	PHASE3	SUSPENDED	Methadone as an Alternative Treatment for Children Underdoing HSCT
NCT00527878	PHASE2	TERMINATED	Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job’s) Syndrome
NCT00000603	PHASE2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00794508	PHASE2	COMPLETED	MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
NCT01182675	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim
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
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT02177760	PHASE2	WITHDRAWN	Sirolimus Prophylaxis for aGVHD in TME SCID
NCT03619551	PHASE2	ACTIVE_NOT_RECRUITING	Conditioning SCID Infants Diagnosed Early
NCT00260702	PHASE1	COMPLETED	Omalizumab to Treat Hyper-IgE (Job’s) Syndrome
NCT07262983	PHASE1	RECRUITING	Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis
NCT00008450	PHASE1	COMPLETED	Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant
NCT00028236	PHASE1	COMPLETED	Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID)
NCT00152100	PHASE1	COMPLETED	Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome
NCT02860559	PHASE1	UNKNOWN	Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01454856	Not specified	TERMINATED	Perioperative Evaluation of Immuno-inflammatory Parameters
NCT01852370	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
NCT04897113	Not specified	UNKNOWN	Study of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00228852	PHASE1/PHASE2	COMPLETED	IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency
NCT00579137	PHASE1/PHASE2	TERMINATED	Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders
NCT01129544	PHASE1/PHASE2	COMPLETED	Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector
NCT02127892	PHASE1/PHASE2	TERMINATED	SCID Bu/Flu/ATG Study With T Cell Depletion
NCT02963064	PHASE1/PHASE2	TERMINATED	JSP191 Antibody Targeting Conditioning in SCID Patients
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03538899	PHASE1/PHASE2	RECRUITING	Autologous Gene Therapy for Artemis-Deficient SCID
NCT03597594	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)
NCT00001255	Not specified	COMPLETED	Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study
NCT00006054	Not specified	TERMINATED	Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies
NCT00006335	Not specified	COMPLETED	Influences on Female Adolescents’ Decisions Regarding Testing for Carrier Status of XSCID
NCT00055172	Not specified	RECRUITING	Genetic Basis of Immunodeficiency
NCT00695279	Not specified	COMPLETED	Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products
NCT00845416	Not specified	COMPLETED	Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population
NCT01186913	Not specified	ENROLLING_BY_INVITATION	Natural History Study of SCID Disorders
NCT01346150	Not specified	UNKNOWN	Patients Treated for SCID (1968-Present)
NCT01652092	Not specified	ACTIVE_NOT_RECRUITING	Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies