COG3

Summary

COG3 (component of oligomeric golgi complex 3, HGNC:18619) is a protein-coding gene on chromosome 13q14.13, encoding Conserved oligomeric Golgi complex subunit 3 (Q96JB2). Involved in ER-Golgi transport. It is a selective cancer dependency (DepMap: 89.2% of cell lines).

This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.

Source: NCBI Gene 83548 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital disorder of glycosylation (Limited, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 113 total — 1 pathogenic
• Phenotypes (HPO): 33
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 89.2% of screened cell lines
• MANE Select transcript: NM_031431

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18619
Approved symbol	COG3
Name	component of oligomeric golgi complex 3
Location	13q14.13
Locus type	gene with protein product
Status	Approved
Aliases	SEC34
Ensembl gene	ENSG00000136152
Ensembl biotype	protein_coding
OMIM	606975
Entrez	83548

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 non_stop_decay, 1 nonsense_mediated_decay

ENST00000349995, ENST00000465942, ENST00000476702, ENST00000486940, ENST00000617325, ENST00000617493, ENST00000618913, ENST00000904057, ENST00000915269, ENST00000915270, ENST00000962854, ENST00000962855, ENST00000962856, ENST00000962857

RefSeq mRNA: 1 — MANE Select: NM_031431 NM_031431

CCDS: CCDS9398

Canonical transcript exons

ENST00000349995 — 23 exons

Exon	Start	End
ENSE00000923374	45476201	45476347
ENSE00000923377	45481230	45481304
ENSE00000923380	45486495	45486575
ENSE00000923389	45516143	45516263
ENSE00001097038	45534702	45536701
ENSE00001097055	45464939	45465210
ENSE00001245412	45518960	45519094
ENSE00001245421	45518762	45518850
ENSE00001245442	45511765	45511854
ENSE00001245511	45483230	45483355
ENSE00001346764	45491412	45491538
ENSE00001346766	45490915	45490958
ENSE00001346776	45482381	45482473
ENSE00001346780	45480125	45480290
ENSE00001346785	45479005	45479066
ENSE00003537948	45493347	45493486
ENSE00003543890	45503244	45503349
ENSE00003572758	45530682	45530780
ENSE00003609786	45509692	45509816
ENSE00003611384	45492159	45492250
ENSE00003645687	45529791	45529918
ENSE00003663293	45496152	45496312
ENSE00003669852	45524976	45525051

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 92.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.3237 / max 334.5969, expressed in 1822 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134972	22.1510	1821
134973	1.1446	676
134974	0.0162	7
134975	0.0119	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	92.84	gold quality
adrenal tissue	UBERON:0018303	92.27	gold quality
right lobe of liver	UBERON:0001114	91.89	gold quality
calcaneal tendon	UBERON:0003701	91.67	gold quality
pancreas	UBERON:0001264	90.92	gold quality
rectum	UBERON:0001052	90.74	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.18	gold quality
monocyte	CL:0000576	89.93	gold quality
ileal mucosa	UBERON:0000331	89.78	gold quality
granulocyte	CL:0000094	89.66	gold quality
pancreatic ductal cell	CL:0002079	89.61	gold quality
leukocyte	CL:0000738	89.55	gold quality
left adrenal gland cortex	UBERON:0035825	89.43	gold quality
left adrenal gland	UBERON:0001234	89.33	gold quality
right adrenal gland	UBERON:0001233	89.14	gold quality
bone marrow cell	CL:0002092	89.04	gold quality
mucosa of transverse colon	UBERON:0004991	89.01	gold quality
minor salivary gland	UBERON:0001830	88.99	gold quality
adrenal gland	UBERON:0002369	88.89	gold quality
transverse colon	UBERON:0001157	88.86	gold quality
ectocervix	UBERON:0012249	88.85	gold quality
right ovary	UBERON:0002118	88.71	gold quality
right adrenal gland cortex	UBERON:0035827	88.64	gold quality
liver	UBERON:0002107	88.61	gold quality
islet of Langerhans	UBERON:0000006	88.59	gold quality
endocervix	UBERON:0000458	88.57	gold quality
body of stomach	UBERON:0001161	88.54	gold quality
adenohypophysis	UBERON:0002196	88.48	gold quality
left ovary	UBERON:0002119	88.46	gold quality
adrenal cortex	UBERON:0001235	88.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.98
E-MTAB-6386	no	251.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

99 targeting COG3, 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-9-5P	100.00	72.28	2361
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 89.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp (PMID:11929878)
• Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. (PMID:37711075)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cog3	ENSDARG00000101999
mus_musculus	Cog3	ENSMUSG00000034893
rattus_norvegicus	Cog3	ENSRNOG00000000155
drosophila_melanogaster	Cog3	FBGN0031536
caenorhabditis_elegans	cogc-3	WBGENE00022121

Protein

Protein identifiers

Conserved oligomeric Golgi complex subunit 3 — Q96JB2 (reviewed: Q96JB2)

Alternative names: Component of oligomeric Golgi complex 3, Vesicle-docking protein SEC34 homolog, p94

All UniProt accessions (3): A0A087WTH9, A0A087WYY9, Q96JB2

UniProt curated annotations — full annotation on UniProt →

Function. Involved in ER-Golgi transport. Also involved in retrograde (Golgi to ER) transport.

Subunit / interactions. Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Interacts with TMEM115.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Widely expressed with highest levels in pancreas and testis and lowest levels in lung.

Disease relevance. Congenital disorder of glycosylation 2BB (CDG2BB) [MIM:620546] A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2BB is an autosomal recessive form characterized by global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the COG3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96JB2-1	1	yes
Q96JB2-2	2

RefSeq proteins (1): NP_113619* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007265	COG_su3	Family
IPR048320	COG3_N	Domain
IPR048685	COG3_C	Domain

Pfam: PF04136, PF20671

UniProt features (14 total): sequence variant 4, sequence conflict 2, modified residue 2, splice variant 2, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96JB2-F1	78.82	0.39

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 (2): 2, 663

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811438	Intra-Golgi traffic
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network

MSigDB gene sets: 176 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOCC_TRANS_GOLGI_NETWORK, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_STABILIZATION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, HTF_01, AACTTT_UNKNOWN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER

GO Biological Process (12): retrograde transport, vesicle recycling within Golgi (GO:0000301), intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), intra-Golgi vesicle-mediated transport (GO:0006891), Golgi organization (GO:0007030), glycoprotein biosynthetic process (GO:0009101), protein localization to organelle (GO:0033365), protein stabilization (GO:0050821), obsolete protein glycosylation (GO:0006486), protein transport (GO:0015031), obsolete glycosylation (GO:0070085)

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

GO Cellular Component (9): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), cytosol (GO:0005829), plasma membrane (GO:0005886), COG complex (GO:0017119), Golgi cisterna membrane (GO:0032580), trans-Golgi network membrane (GO:0032588), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	2
ER to Golgi Anterograde Transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular protein localization	3
cytoplasm	3
Golgi vesicle transport	3
Golgi apparatus	3
intracellular transport	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
organelle membrane	2
intra-Golgi vesicle-mediated transport	1
protein transport	1
intercellular transport	1
organelle organization	1
endomembrane system organization	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
regulation of protein stability	1
transport	1
establishment of protein localization	1
binding	1
bounding membrane of organelle	1
endomembrane system	1
membrane	1
cell periphery	1
vesicle tethering complex	1
Golgi cisterna	1
trans-Golgi network	1

Protein interactions and networks

STRING

1835 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COG3	COG2	Q14746	995
COG3	COG4	Q9H9E3	994
COG3	COG1	Q8WTW3	992
COG3	COG7	P83436	991
COG3	COG5	Q9UP83	991
COG3	COG8	Q96MW5	986
COG3	COG6	Q9Y2V7	968
COG3	COPB1	P53618	925
COG3	VPS52	Q8N1B4	832
COG3	GOSR2	O14653	814
COG3	EXOC7	Q9UPT5	792
COG3	GOLGA5	Q8TBA6	731
COG3	RIC1	Q4ADV7	730
COG3	STX5	Q13190	724
COG3	GOLGB1	Q14789	679
COG3	EXOC1	Q9NV70	679

IntAct

86 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
COG4	COG7	psi-mi:“MI:0914”(association)	0.670
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
COMMD8	VPS26C	psi-mi:“MI:0914”(association)	0.640
COG3	COG7	psi-mi:“MI:0914”(association)	0.640
COG7	ILVBL	psi-mi:“MI:0914”(association)	0.640
GYPA	TCAF2	psi-mi:“MI:0914”(association)	0.640
COG3		psi-mi:“MI:0915”(physical association)	0.550
VSIG2	TTI1	psi-mi:“MI:0914”(association)	0.530
CD274	TTI1	psi-mi:“MI:0914”(association)	0.530
RAB30	UBB	psi-mi:“MI:0914”(association)	0.530
COG5	BSG	psi-mi:“MI:0914”(association)	0.530
COG3	TBCC	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
CD40	EXOC5	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
COG2	COG7	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
rep	COG3	psi-mi:“MI:0915”(physical association)	0.490
COG7	SCFD1	psi-mi:“MI:0914”(association)	0.460
SCFD1	COG7	psi-mi:“MI:0914”(association)	0.460
MAF1b1	COG3	psi-mi:“MI:0915”(physical association)	0.370
	ZW10	psi-mi:“MI:0914”(association)	0.350

BioGRID (193): COG3 (Two-hybrid), COG3 (Affinity Capture-MS), COG3 (Affinity Capture-MS), COG3 (Affinity Capture-MS), COG3 (Affinity Capture-MS), COG4 (Affinity Capture-MS), COG6 (Affinity Capture-MS), COG7 (Affinity Capture-MS), HAUS1 (Affinity Capture-MS), COG8 (Affinity Capture-MS), COG5 (Affinity Capture-MS), COG2 (Affinity Capture-MS), CCDC18 (Affinity Capture-MS), COG1 (Affinity Capture-MS), TBCC (Affinity Capture-MS)

ESM2 similar proteins: A2VDR8, E7FC72, F4HQ84, F4JHH5, F4JRR1, O01839, O35250, O44218, O54922, O60645, P83436, Q0V8C2, Q14746, Q18286, Q18406, Q19262, Q2TBH9, Q3T1G7, Q3UM29, Q62825, Q6KAR6, Q6NMI3, Q8C0L8, Q8CIM8, Q8MSY4, Q921L5, Q94AI6, Q95TN4, Q95XZ0, Q961G1, Q96HW7, Q96JB2, Q9FGN0, Q9JJA2, Q9LXX6, Q9UP83, Q9UPT5, Q9V564, Q9V8K2, Q9VAD6

Diamond homologs: F4HQ84, Q16ZN9, Q29N70, Q54TT4, Q8CI04, Q961G1, Q96JB2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COG3	“form complex”	“COG tethering complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 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
Intra-Golgi traffic	5	25.4×	5e-04
COPI-mediated anterograde transport	6	12.9×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	5	22.8×	4e-04
Golgi organization	7	12.7×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	85
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3391853	GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3	Pathogenic

SpliceAI

4276 predictions. Top by Δscore:

Variant	Effect	Δscore
13:45465206:C:G	donor_gain	1.0000
13:45465209:AGGTG:A	donor_loss	1.0000
13:45465212:T:G	donor_loss	1.0000
13:45476198:A:AG	acceptor_gain	1.0000
13:45476199:A:AG	acceptor_gain	1.0000
13:45476199:AGCTT:A	acceptor_loss	1.0000
13:45476200:G:GA	acceptor_gain	1.0000
13:45476200:G:GT	acceptor_loss	1.0000
13:45476200:GCTT:G	acceptor_gain	1.0000
13:45476200:GCTTC:G	acceptor_gain	1.0000
13:45476345:CAG:C	donor_loss	1.0000
13:45476347:GG:G	donor_loss	1.0000
13:45476348:G:GA	donor_loss	1.0000
13:45479002:CA:C	acceptor_loss	1.0000
13:45479003:A:AG	acceptor_gain	1.0000
13:45479004:G:GA	acceptor_gain	1.0000
13:45479004:GT:G	acceptor_gain	1.0000
13:45479004:GTT:G	acceptor_gain	1.0000
13:45479004:GTTT:G	acceptor_gain	1.0000
13:45479004:GTTTT:G	acceptor_gain	1.0000
13:45479067:G:A	donor_loss	1.0000
13:45479068:T:G	donor_loss	1.0000
13:45480123:A:AG	acceptor_gain	1.0000
13:45480124:G:GG	acceptor_gain	1.0000
13:45481218:A:AG	acceptor_gain	1.0000
13:45481220:A:AG	acceptor_gain	1.0000
13:45481222:A:AG	acceptor_gain	1.0000
13:45481224:T:G	acceptor_gain	1.0000
13:45481227:A:AG	acceptor_gain	1.0000
13:45481227:AAGTC:A	acceptor_gain	1.0000

AlphaMissense

5433 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:45496215:T:C	L464P	1.000
13:45496224:G:C	R467P	1.000
13:45509757:T:A	W554R	1.000
13:45509757:T:C	W554R	1.000
13:45516180:T:C	L616P	1.000
13:45519018:T:C	L693P	1.000
13:45480277:T:C	L179P	0.999
13:45491459:G:C	R339P	0.999
13:45492211:T:C	L383P	0.999
13:45493391:G:C	R411T	0.999
13:45493391:G:T	R411M	0.999
13:45493427:T:C	L423P	0.999
13:45493436:T:C	L426P	0.999
13:45493448:T:C	L430P	0.999
13:45496212:G:C	R463P	0.999
13:45496286:T:G	Y488D	0.999
13:45496299:T:C	L492S	0.999
13:45509759:G:C	W554C	0.999
13:45509759:G:T	W554C	0.999
13:45509760:T:G	Y555D	0.999
13:45509770:T:A	V558D	0.999
13:45509782:T:C	L562P	0.999
13:45509791:T:C	L565P	0.999
13:45511774:T:C	F577L	0.999
13:45511776:C:A	F577L	0.999
13:45511776:C:G	F577L	0.999
13:45511809:C:G	C588W	0.999
13:45516162:T:C	L610P	0.999
13:45516164:T:C	F611L	0.999
13:45516166:C:A	F611L	0.999

dbSNP variants (sampled 300 via entrez): RS1000013095 (13:45463619 T>C), RS1000070327 (13:45463250 C>A), RS1000070983 (13:45510453 A>G), RS1000268680 (13:45483795 C>A,G), RS1000379052 (13:45534792 G>A), RS1000447386 (13:45477433 T>G), RS1000505704 (13:45463454 T>C), RS1000506178 (13:45504830 G>A), RS1000663051 (13:45498224 T>C), RS1000666861 (13:45483094 G>A,T), RS1000688359 (13:45534565 T>C), RS1000713273 (13:45498508 G>A), RS1000773783 (13:45525837 G>T), RS1000819946 (13:45476222 A>C,T), RS1000864801 (13:45518604 A>G)

Disease associations

OMIM: gene MIM:606975 | disease phenotypes: MIM:620546

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital disorder of glycosylation, type IIbb	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	AR

Mondo (1): congenital disorder of glycosylation, type IIbb (MONDO:0957820)

Orphanet (0):

HPO phenotypes

33 total (30 of 33 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000233	Thin vermilion border
HP:0000252	Microcephaly
HP:0000276	Long face
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000400	Macrotia
HP:0000448	Prominent nose
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000639	Nystagmus
HP:0000718	Aggressive behavior
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001344	Absent speech
HP:0002188	Delayed CNS myelination
HP:0002353	EEG abnormality
HP:0003160	Abnormal isoelectric focusing of serum transferrin
HP:0003202	Skeletal muscle atrophy
HP:0003593	Infantile onset
HP:0006855	Cerebellar vermis atrophy
HP:0008936	Axial hypotonia
HP:0011463	Childhood onset
HP:0012389	Appendicular hypotonia
HP:0032792	Tonic seizure

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005586_4	Breast milk fatty acid composition (maternal genotype effect)	2.000000e-10
GCST005587_4	Breast milk fatty acid composition (infant genotype effect)	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005939	parental genotype effect measurement
EFO:0007959	fetal genotype effect measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105842 (SINGLE PROTEIN)

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
bisphenol A	affects cotreatment, increases methylation, decreases expression, increases expression	3
sodium arsenite	decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
dicrotophos	decreases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
arsenic disulfide	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
ICG 001	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
jinfukang	decreases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	increases expression	1
NSC668394	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects binding, increases reaction	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	decreases expression	1
Dronabinol	decreases expression	1
Thiram	increases expression	1
Tunicamycin	increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4012602	Binding	Binding affinity to COG3 in human INA-6 cells after 3 hrs by nanoLC-MS/MS method	Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem

Clinical trials (associated diseases)

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