ERGIC3

Summary

ERGIC3 (ERGIC and golgi 3, HGNC:15927) is a protein-coding gene on chromosome 20q11.22, encoding Endoplasmic reticulum-Golgi intermediate compartment protein 3 (Q9Y282). Possible role in transport between endoplasmic reticulum and Golgi.

Involved in endoplasmic reticulum to Golgi vesicle-mediated transport and positive regulation of intracellular protein transport. Located in membrane. Part of retrograde transporter complex, Golgi to ER. Biomarker of lung adenocarcinoma.

Source: NCBI Gene 51614 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC)
• GWAS associations: 18
• Clinical variants (ClinVar): 77 total — 1 likely-pathogenic
• MANE Select transcript: NM_015966

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15927
Approved symbol	ERGIC3
Name	ERGIC and golgi 3
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Aliases	CGI-54, PRO0989, NY-BR-84, Erv46
Ensembl gene	ENSG00000125991
Ensembl biotype	protein_coding
OMIM	616971
Entrez	51614

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 24 protein_coding, 7 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000279052, ENST00000348547, ENST00000357394, ENST00000411577, ENST00000413587, ENST00000416206, ENST00000438317, ENST00000442139, ENST00000447986, ENST00000451605, ENST00000461043, ENST00000465298, ENST00000475211, ENST00000482338, ENST00000486268, ENST00000488384, ENST00000488935, ENST00000489071, ENST00000496172, ENST00000886984, ENST00000886985, ENST00000886986, ENST00000886987, ENST00000886988, ENST00000886989, ENST00000886990, ENST00000886991, ENST00000931304, ENST00000931305, ENST00000955793, ENST00000955794, ENST00000955795, ENST00000955796, ENST00000955797, ENST00000955798, ENST00000955799

RefSeq mRNA: 2 — MANE Select: NM_015966 NM_015966, NM_198398

CCDS: CCDS13257, CCDS13258

Canonical transcript exons

ENST00000348547 — 13 exons

Exon	Start	End
ENSE00001951119	35542078	35542185
ENSE00003464168	35557194	35557249
ENSE00003472206	35548808	35548865
ENSE00003480101	35542323	35542393
ENSE00003580734	35542822	35542941
ENSE00003585533	35555044	35555075
ENSE00003601770	35557425	35557634
ENSE00003603552	35547412	35547505
ENSE00003612207	35548509	35548674
ENSE00003614927	35556207	35556271
ENSE00003658121	35542513	35542600
ENSE00003688432	35556033	35556129
ENSE00003690413	35556973	35557109

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 103.5455 / max 400.5872, expressed in 1827 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184306	102.9132	1827
184307	0.6322	287

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.54	gold quality
left testis	UBERON:0004533	99.51	gold quality
right testis	UBERON:0004534	99.51	gold quality
stromal cell of endometrium	CL:0002255	99.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.20	gold quality
right lobe of thyroid gland	UBERON:0001119	99.12	gold quality
left lobe of thyroid gland	UBERON:0001120	99.09	gold quality
endocervix	UBERON:0000458	98.99	gold quality
mucosa of transverse colon	UBERON:0004991	98.97	gold quality
minor salivary gland	UBERON:0001830	98.92	gold quality
right ovary	UBERON:0002118	98.92	gold quality
left ovary	UBERON:0002119	98.92	gold quality
islet of Langerhans	UBERON:0000006	98.89	gold quality
body of pancreas	UBERON:0001150	98.89	gold quality
right adrenal gland cortex	UBERON:0035827	98.89	gold quality
right adrenal gland	UBERON:0001233	98.87	gold quality
body of stomach	UBERON:0001161	98.85	gold quality
rectum	UBERON:0001052	98.84	gold quality
skin of leg	UBERON:0001511	98.83	gold quality
gall bladder	UBERON:0002110	98.83	gold quality
thyroid gland	UBERON:0002046	98.80	gold quality
left adrenal gland	UBERON:0001234	98.79	gold quality
left adrenal gland cortex	UBERON:0035825	98.79	gold quality
skin of abdomen	UBERON:0001416	98.78	gold quality
body of uterus	UBERON:0009853	98.77	gold quality
metanephros cortex	UBERON:0010533	98.77	gold quality
ectocervix	UBERON:0012249	98.76	gold quality
ganglionic eminence	UBERON:0004023	98.73	gold quality
cortical plate	UBERON:0005343	98.68	gold quality
transverse colon	UBERON:0001157	98.66	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	90.87
E-CURD-122	yes	36.15
E-MTAB-7606	no	789.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting ERGIC3, 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-4283	100.00	66.42	2097
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-6878-5P	98.49	67.91	2142

Literature-anchored findings (GeneRIF, showing 7)

• Plays important roles in cell growth and endoplasmic reticulum stress-induced cell death. (PMID:17020792)
• miR-490-3p modulates cell growth and epithelial to mesenchymal transition of hepatocellular carcinoma cells by targeting endoplasmic reticulum-Golgi intermediate compartment protein 3 (ERGIC3). (PMID:23212913)
• ERGIC3 may play an active role in the development and progression of lung cancer. (PMID:23374247)
• Results showed that miR-203a downregulation induced ERGIC3 overexpression in non-small cell lung cancer cells. (PMID:26177443)
• these data showed that knockdown of ERGIC3 triggers endoplasmic reticulum stress-induced autophagic cancer cell death (PMID:27588471)
• MARCH2 reduced secretion of alpha1-antitrypsin and haptoglobin, and coexpression of the ubiquitination-resistant ERGIC3 variant largely restored their secretion, suggesting that MARCH2-mediated ERGIC3 ubiquitination is the major cause of the decrease in trafficking of ERGIC3-binding secretory proteins. (PMID:31142615)
• Transcriptome changes in ERGIC3-knockdown hepatocellular carcinoma cells: ERGIC3 is a novel immune function related gene. (PMID:35602902)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ergic3	ENSDARG00000038074
mus_musculus	Ergic3	ENSMUSG00000005881
rattus_norvegicus	Ergic3	ENSRNOG00000031085
drosophila_melanogaster	CG7011	FBGN0036489
caenorhabditis_elegans		WBGENE00010725

Paralogs (2): ERGIC2 (ENSG00000087502), ERGIC1 (ENSG00000113719)

Protein

Protein identifiers

Endoplasmic reticulum-Golgi intermediate compartment protein 3 — Q9Y282 (reviewed: Q9Y282)

Alternative names: Serologically defined breast cancer antigen NY-BR-84

All UniProt accessions (8): Q9Y282, A0A0C4DH46, A2TJK5, A6PVJ2, H0Y5K5, H0Y621, H0Y6Z0, H0Y802

UniProt curated annotations — full annotation on UniProt →

Function. Possible role in transport between endoplasmic reticulum and Golgi. Positively regulates trafficking of the secretory proteins SERPINA1/alpha1-antitrypsin and HP/haptoglobin.

Subunit / interactions. Forms homodimers. May form a heteromeric complex composed of ERGIC1, ERGIC2 and ERGIC3. Within the complex, the interaction with ERGIC1 is direct. Interacts with ERGIC1/ERGIC32. Interacts with ERGIC2, the interaction is required for the stable expression of both proteins. Interacts with MARCHF2. Interacts with alpha1-antitrypsin/SERPINA1 and HP/haptoglobin.

Subcellular location. Endoplasmic reticulum-Golgi intermediate compartment membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum membrane.

Similarity. Belongs to the ERGIC family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y282-1	1	yes
Q9Y282-2	2
Q9Y282-3	3

RefSeq proteins (2): NP_057050, NP_938408 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012936	Erv_C	Domain
IPR039542	Erv_N	Domain
IPR045888	Erv	Family

Pfam: PF07970, PF13850

UniProt features (23 total): mutagenesis site 5, topological domain 3, splice variant 3, glycosylation site 2, sequence variant 2, transmembrane region 2, modified residue 2, chain 1, sequence conflict 1, region of interest 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y282-F1	84.05	0.44

Functional residue map

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

Catalytic / active sites (1): 8 (ubiquitinated; by marchf2)

Post-translational modifications (2): 1, 116

Glycosylation sites (2): 241, 266

Mutagenesis-validated functional residues (5):

Position	Phenotype
1–25	abolishes marchf2-mediated degradation.
6	reduces marchf2-mediated ubiquitination and degradation. no effect on interaction with marchf2. reduces marchf2-mediated
8	reduces marchf2-mediated ubiquitination and degradation. no effect on interaction with marchf2. reduces marchf2-mediated
15	no effect on marchf2-mediated ubiquitination and degradation.
23	no effect on marchf2-mediated ubiquitination and degradation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 147 (showing top): RNGTGGGC_UNKNOWN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, ENK_UV_RESPONSE_KERATINOCYTE_UP, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION

GO Biological Process (4): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), positive regulation of intracellular protein transport (GO:0090316), vesicle-mediated transport (GO:0016192)

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

GO Cellular Component (9): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), retrograde cargo receptor complex, Golgi to ER (GO:0061852), transporter complex (GO:1990351), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
Golgi vesicle transport	2
bounding membrane of organelle	2
endomembrane system	2
intracellular membrane-bounded organelle	2
intercellular transport	1
intracellular transport	1
intracellular protein transport	1
positive regulation of intracellular transport	1
regulation of intracellular protein transport	1
positive regulation of protein transport	1
transport	1
cellular process	1
binding	1
Golgi apparatus	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
coated vesicle	1
endoplasmic reticulum-Golgi intermediate compartment	1
cargo receptor complex	1
protein-containing complex	1

Protein interactions and networks

STRING

2074 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERGIC3	ERGIC2	Q96RQ1	941
ERGIC3	RER1	O15258	590
ERGIC3	SEC13	P55735	514
ERGIC3	SURF4	O15260	507
ERGIC3	BLOC1S1	P78537	481
ERGIC3	TRPC4AP	Q8TEL6	471
ERGIC3	SEC61A1	P38378	462
ERGIC3	LMAN1	P49257	462
ERGIC3	LMAN2	Q12907	445
ERGIC3	STX5	Q13190	435
ERGIC3	BET1	O15155	427
ERGIC3	TMED10	P49755	423
ERGIC3	FBXL12	Q9NXK8	419
ERGIC3	SEC24B	O95487	413
ERGIC3	PHF3	Q92576	400

IntAct

700 interactions, top by confidence:

A	B	Type	Score
VAMP5	ERGIC3	psi-mi:“MI:0915”(physical association)	0.670
MYG1	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
VKORC1	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0C	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
C2CD2L	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
EHHADH	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
BCL2L2	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
APOL2	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
UBE2J1	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
SLC30A8	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
YIPF1	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
ERGIC3	CCR2	psi-mi:“MI:0915”(physical association)	0.370
ERGIC3	CCR4	psi-mi:“MI:0915”(physical association)	0.370
ERGIC3	CCR8	psi-mi:“MI:0915”(physical association)	0.370
ERGIC3	BUD31	psi-mi:“MI:0915”(physical association)	0.370
ERGIC3	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
ERGIC3	GPR35	psi-mi:“MI:0915”(physical association)	0.370
ERGIC3	GPR37	psi-mi:“MI:0915”(physical association)	0.370
ERGIC3	CHRM4	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (450): COX16 (Affinity Capture-MS), PXMP2 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), TMEM87A (Affinity Capture-MS), SLC30A9 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), FLVCR1 (Affinity Capture-MS), PARL (Affinity Capture-MS), MFAP3 (Affinity Capture-MS), TMEM192 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), ARV1 (Affinity Capture-MS), CLPTM1 (Affinity Capture-MS), ABCB6 (Affinity Capture-MS), SLC38A10 (Affinity Capture-MS)

ESM2 similar proteins: A8X4W9, F4JIN3, G0SDN0, G5EEK9, G5EFE7, O13718, O13946, O14324, O94283, P12890, P14906, P25169, P25656, P37296, P38875, P39727, P40345, P42838, P49654, P51578, P53740, P56373, Q04651, Q09614, Q09895, Q0WT48, Q12403, Q19127, Q24046, Q3UR32, Q4R8X1, Q54DW2, Q54E04, Q553Y0, Q553Y1, Q5EAE0, Q5R8G3, Q66KH2, Q6NVS2, Q7XVN7

Diamond homologs: O94283, Q04651, Q4R8X1, Q54DW2, Q5EAE0, Q5R8G3, Q9CQE7, Q9Y282, P39727, Q09895, Q4R5C3, Q66KH2, Q6NS19, Q6NVS2, Q7T2D4, Q803I2, Q96RQ1, Q9CR89, Q69SA9, Q9LJU2, Q4V8Y6, Q969X5, Q9DC16, Q9T042

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ERGIC1	“up-regulates quantity by stabilization”	ERGIC3	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 181 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
vesicle fusion	5	18.9×	3e-03
Golgi to plasma membrane protein transport	5	16.6×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	43
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2661907	NM_015966.3(ERGIC3):c.829C>T (p.Gln277Ter)	Likely pathogenic

SpliceAI

2006 predictions. Top by Δscore:

Variant	Effect	Δscore
20:35542183:CCGG:C	donor_loss	1.0000
20:35542185:GGT:G	donor_loss	1.0000
20:35542186:G:GG	donor_gain	1.0000
20:35542186:GTAG:G	donor_loss	1.0000
20:35542187:T:A	donor_loss	1.0000
20:35542319:GCAGT:G	acceptor_loss	1.0000
20:35542321:A:AG	acceptor_gain	1.0000
20:35542321:AGT:A	acceptor_gain	1.0000
20:35542322:G:GA	acceptor_gain	1.0000
20:35542322:GT:G	acceptor_gain	1.0000
20:35542322:GTG:G	acceptor_gain	1.0000
20:35542322:GTGA:G	acceptor_gain	1.0000
20:35542322:GTGAC:G	acceptor_gain	1.0000
20:35542390:GGAG:G	donor_gain	1.0000
20:35542391:G:GT	donor_gain	1.0000
20:35542395:T:G	donor_loss	1.0000
20:35542597:GCCT:G	donor_gain	1.0000
20:35542818:CCAGA:C	acceptor_loss	1.0000
20:35542819:CAGAT:C	acceptor_loss	1.0000
20:35542820:AG:A	acceptor_loss	1.0000
20:35542917:G:GG	donor_gain	1.0000
20:35542929:GC:G	donor_gain	1.0000
20:35542930:C:G	donor_gain	1.0000
20:35542951:G:T	donor_gain	1.0000
20:35547411:GA:G	acceptor_gain	1.0000
20:35547506:G:GG	donor_gain	1.0000
20:35548506:CAGG:C	acceptor_loss	1.0000
20:35548507:A:AG	acceptor_gain	1.0000
20:35548507:AG:A	acceptor_gain	1.0000
20:35548507:AGGT:A	acceptor_gain	1.0000

AlphaMissense

2539 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:35542556:T:C	L68P	1.000
20:35542562:T:C	I70T	1.000
20:35542562:T:G	I70S	1.000
20:35542594:T:A	C81S	1.000
20:35542594:T:C	C81R	1.000
20:35542595:G:A	C81Y	1.000
20:35542595:G:C	C81S	1.000
20:35542595:G:T	C81F	1.000
20:35542596:T:G	C81W	1.000
20:35542825:T:C	L84P	1.000
20:35542833:G:C	D87H	1.000
20:35542834:A:G	D87G	1.000
20:35542836:G:C	A88P	1.000
20:35542837:C:A	A88D	1.000
20:35542842:G:C	D90H	1.000
20:35542842:G:T	D90Y	1.000
20:35542843:A:C	D90A	1.000
20:35542843:A:G	D90G	1.000
20:35542843:A:T	D90V	1.000
20:35542844:T:A	D90E	1.000
20:35542844:T:G	D90E	1.000
20:35547477:T:A	C145S	1.000
20:35547477:T:C	C145R	1.000
20:35547478:G:A	C145Y	1.000
20:35547478:G:C	C145S	1.000
20:35547478:G:T	C145F	1.000
20:35547479:C:G	C145W	1.000
20:35548513:T:A	C156S	1.000
20:35548513:T:C	C156R	1.000
20:35548514:G:A	C156Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000255695 (20:35540665 G>A), RS1000332778 (20:35556787 A>C,G), RS1000435338 (20:35546795 A>G), RS1000540351 (20:35553689 C>G,T), RS1000651065 (20:35550599 G>T), RS1000655726 (20:35540429 G>A), RS1000916283 (20:35550853 C>T), RS1001376692 (20:35540792 A>G,T), RS1001421252 (20:35540079 G>A,T), RS1001431762 (20:35547324 C>T), RS1001569511 (20:35553745 C>T), RS1001648713 (20:35546343 G>A), RS1001773713 (20:35552832 C>G,T), RS1001996486 (20:35545937 T>C), RS1002169055 (20:35552224 C>T)

Disease associations

OMIM: gene MIM:616971 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Moderate	Autosomal recessive

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000760_14	Cholesterol, total	4.000000e-10
GCST002221_45	Cholesterol, total	5.000000e-11
GCST002896_37	Cholesterol, total	1.000000e-08
GCST002897_2	Triglycerides	2.000000e-08
GCST004235_34	Total cholesterol levels	4.000000e-12
GCST004946_83	Schizophrenia	2.000000e-16
GCST005956_31	Waist-to-hip ratio adjusted for BMI	8.000000e-08
GCST005958_16	Waist-to-hip ratio adjusted for BMI (age >50)	6.000000e-06
GCST005962_40	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-08
GCST006614_58	Total cholesterol levels	2.000000e-19
GCST008156_24	Hip circumference adjusted for BMI	4.000000e-07
GCST008163_195	Height	2.000000e-07
GCST010002_66	Refractive error	2.000000e-20
GCST010243_7	Apolipoprotein B levels	4.000000e-14
GCST010245_172	LDL cholesterol levels	3.000000e-16
GCST010703_112	Brain morphology (MOSTest)	4.000000e-19
GCST012227_1141	Hip circumference adjusted for BMI	6.000000e-16
GCST90020028_1560	Hip circumference adjusted for BMI	4.000000e-11

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004615	apolipoprotein B measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	2
Smoke	decreases expression, increases abundance, increases expression	2
Tretinoin	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
beta-lapachone	increases expression	1
arsenite	increases methylation	1
cobaltous chloride	decreases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
ursodoxicoltaurine	decreases expression, decreases reaction	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Chloroquine	increases expression, increases reaction	1
Diazinon	increases methylation	1
Gallic Acid	increases expression	1
Ivermectin	decreases expression	1
Rotenone	increases expression	1
Selenium	increases expression	1
Tunicamycin	decreases reaction, increases expression, decreases expression	1
Metribolone	increases expression	1
Aflatoxin B1	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2WN	Abcam HEK293T ERGIC3 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice