COG2

Summary

COG2 (component of oligomeric golgi complex 2, HGNC:6546) is a protein-coding gene on chromosome 1q42.2, encoding Conserved oligomeric Golgi complex subunit 2 (Q14746). Required for normal Golgi morphology and function. It is a selective cancer dependency (DepMap: 61.3% of cell lines).

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 22796 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital disorder of glycosylation, type IIq (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 308 total — 6 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 19
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 61.3% of screened cell lines
• MANE Select transcript: NM_007357

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6546
Approved symbol	COG2
Name	component of oligomeric golgi complex 2
Location	1q42.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000135775
Ensembl biotype	protein_coding
OMIM	606974
Entrez	22796

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000366668, ENST00000366669, ENST00000468893, ENST00000473671, ENST00000478710, ENST00000482012, ENST00000490900, ENST00000494371, ENST00000534989, ENST00000865123, ENST00000865124, ENST00000921491, ENST00000964684, ENST00000964685, ENST00000964686, ENST00000964687, ENST00000964688, ENST00000964689

RefSeq mRNA: 2 — MANE Select: NM_007357 NM_001145036, NM_007357

CCDS: CCDS1584, CCDS44329

Canonical transcript exons

ENST00000366669 — 18 exons

Exon	Start	End
ENSE00000805217	230671516	230671640
ENSE00000805220	230683574	230683635
ENSE00000805224	230688420	230688562
ENSE00000805225	230690014	230690153
ENSE00000805226	230691384	230691564
ENSE00001262174	230678913	230679052
ENSE00001714340	230693292	230693982
ENSE00001919434	230642481	230642678
ENSE00003489447	230685085	230685236
ENSE00003504093	230688071	230688143
ENSE00003505850	230669356	230669535
ENSE00003576229	230686935	230687132
ENSE00003601809	230660758	230660823
ENSE00003616218	230668676	230668784
ENSE00003621610	230664484	230664587
ENSE00003623857	230663141	230663221
ENSE00003628018	230674998	230675124
ENSE00003673231	230659464	230659625

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 91.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.2562 / max 136.6362, expressed in 1813 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
9033	16.6052	1813
9034	0.6510	381

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
rectum	UBERON:0001052	91.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.22	gold quality
cerebellar hemisphere	UBERON:0002245	91.10	gold quality
cerebellar cortex	UBERON:0002129	90.98	gold quality
right adrenal gland cortex	UBERON:0035827	90.92	gold quality
right adrenal gland	UBERON:0001233	90.74	gold quality
pancreatic ductal cell	CL:0002079	90.09	gold quality
islet of Langerhans	UBERON:0000006	90.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.85	gold quality
left adrenal gland	UBERON:0001234	89.84	gold quality
adrenal tissue	UBERON:0018303	89.79	gold quality
cerebellum	UBERON:0002037	89.48	gold quality
left adrenal gland cortex	UBERON:0035825	89.48	gold quality
adrenal gland	UBERON:0002369	89.00	gold quality
granulocyte	CL:0000094	88.59	gold quality
adrenal cortex	UBERON:0001235	88.43	gold quality
tibialis anterior	UBERON:0001385	88.41	gold quality
monocyte	CL:0000576	88.33	gold quality
mononuclear cell	CL:0000842	88.19	gold quality
leukocyte	CL:0000738	88.15	gold quality
apex of heart	UBERON:0002098	88.04	gold quality
transverse colon	UBERON:0001157	87.88	gold quality
calcaneal tendon	UBERON:0003701	87.85	gold quality
ileal mucosa	UBERON:0000331	87.61	gold quality
gastrocnemius	UBERON:0001388	87.52	gold quality
muscle of leg	UBERON:0001383	87.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.45	gold quality
pancreas	UBERON:0001264	87.42	gold quality
right atrium auricular region	UBERON:0006631	87.29	gold quality
body of pancreas	UBERON:0001150	87.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting COG2, 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-3688-3P	99.97	72.02	2834
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-381-3P	99.93	71.87	2854
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-205-3P	99.92	69.92	3165
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-6739-3P	99.22	68.84	1843
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-4720-3P	98.50	68.88	988

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 61.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• The interaction between p115 and Cog2 was found to be essential for Golgi ribbon reformation after the disruption of the ribbon by p115 KD or brefeldin A treatment and recovery by re-expression of p115 or drug wash out, respectively. (PMID:17274799)
• Our data strongly suggest that these compound heterozygous mutations in COG2 are causative of CDG. (PMID:24784932)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cog2	ENSDARG00000004037
mus_musculus	Cog2	ENSMUSG00000031979
rattus_norvegicus	Cog2	ENSRNOG00000018228
drosophila_melanogaster	Cog2	FBGN0026634
caenorhabditis_elegans		WBGENE00000585

Protein

Protein identifiers

Conserved oligomeric Golgi complex subunit 2 — Q14746 (reviewed: Q14746)

Alternative names: Component of oligomeric Golgi complex 2, Low density lipoprotein receptor defect C-complementing protein

All UniProt accessions (4): B1ALW7, B7Z2Y2, Q14746, V9GY21

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal Golgi morphology and function.

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.

Subcellular location. Golgi apparatus membrane.

Disease relevance. Congenital disorder of glycosylation 2Q (CDG2Q) [MIM:617395] A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders 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. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the COG2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14746-1	1	yes
Q14746-2	2

RefSeq proteins (2): NP_001138508, NP_031383* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009316	COG2	Family
IPR024602	COG_su2_N	Domain
IPR024603	COG_complex_COG2_C	Domain

Pfam: PF06148, PF12022

UniProt features (9 total): sequence variant 4, region of interest 2, chain 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14746-F1	81.38	0.36

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: 170 (showing top): GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, MODULE_120, GOCC_TRANS_GOLGI_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_UP, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, MODULE_175, YNGTTNNNATT_UNKNOWN, SCHLOSSER_MYC_AND_SERUM_RESPONSE_SYNERGY, GOBP_GOLGI_ORGANIZATION, GOCC_GOLGI_STACK, GOCC_GOLGI_TRANSPORT_COMPLEX, GOCC_TRANS_GOLGI_NETWORK_MEMBRANE

GO Biological Process (5): retrograde transport, vesicle recycling within Golgi (GO:0000301), intra-Golgi vesicle-mediated transport (GO:0006891), Golgi organization (GO:0007030), protein transport (GO:0015031), obsolete glycosylation (GO:0070085)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (6): Golgi membrane (GO:0000139), Golgi stack (GO:0005795), COG complex (GO:0017119), trans-Golgi network membrane (GO:0032588), Golgi apparatus (GO:0005794), 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
binding	2
Golgi apparatus	2
intra-Golgi vesicle-mediated transport	1
Golgi vesicle transport	1
organelle organization	1
endomembrane system organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
bounding membrane of organelle	1
Golgi apparatus subcompartment	1
vesicle tethering complex	1
trans-Golgi network	1
organelle membrane	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1270 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COG2	COG5	Q9UP83	996
COG2	COG1	Q8WTW3	996
COG2	COG3	Q96JB2	995
COG2	COG7	P83436	995
COG2	COG4	Q9H9E3	995
COG2	COG8	Q96MW5	986
COG2	COG6	Q9Y2V7	986
COG2	COPB1	P53618	824
COG2	STX5	Q13190	709
COG2	GOSR2	O14653	681
COG2	EXOC7	Q9UPT5	680
COG2	VPS53	Q5VIR6	666
COG2	USO1	O60763	663
COG2	VPS54	Q9P1Q0	641
COG2	TGOLN2	O43493	640

IntAct

101 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
COG2	MTUS2	psi-mi:“MI:0915”(physical association)	0.670
COG2	COG4	psi-mi:“MI:0915”(physical association)	0.670
COG4	COG2	psi-mi:“MI:0915”(physical 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
GYPA	TCAF2	psi-mi:“MI:0914”(association)	0.640
LENG8	COG2	psi-mi:“MI:0915”(physical association)	0.560
COG2	CEP68	psi-mi:“MI:0915”(physical association)	0.560
COG2	LENG8	psi-mi:“MI:0915”(physical association)	0.560
COG2	LZTS1	psi-mi:“MI:0915”(physical association)	0.560
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
COG6	EXOC5	psi-mi:“MI:0914”(association)	0.530
TEKT4	CLOCK	psi-mi:“MI:0914”(association)	0.530
VSIG2	TTI1	psi-mi:“MI:0914”(association)	0.530
CD274	TTI1	psi-mi:“MI:0914”(association)	0.530
ALOX5	DDHD2	psi-mi:“MI:0914”(association)	0.530
COMTD1	IFRD1	psi-mi:“MI:0914”(association)	0.530
CA14	EXOC5	psi-mi:“MI:0914”(association)	0.530
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530

BioGRID (164): MTUS2 (Two-hybrid), COG2 (Affinity Capture-MS), COG2 (Affinity Capture-MS), COG2 (Affinity Capture-MS), COG2 (Affinity Capture-MS), COG2 (Affinity Capture-MS), COG2 (Affinity Capture-MS), COG2 (Affinity Capture-MS), COG2 (Affinity Capture-MS), COG1 (Co-fractionation), COG2 (Co-fractionation), COG2 (Co-fractionation), COG3 (Co-fractionation), COG4 (Co-fractionation), COG6 (Co-fractionation)

ESM2 similar proteins: A2AV37, A2BID5, A2VDR8, A7E2Y6, A7Z033, B4DZS4, O15068, O35821, O60645, O70576, O94812, P52630, P83436, Q01755, Q03169, Q08CY4, Q0P4Q0, Q0V8C2, Q14746, Q15021, Q17RC7, Q19262, Q1LXZ7, Q2TBH9, Q3T1G7, Q3TBD2, Q3UM29, Q5H9J9, Q5XI00, Q61333, Q62825, Q63406, Q64096, Q6DIA2, Q6GPP1, Q6KAR6, Q7T006, Q80TT2, Q80VA5, Q8K1H7

Diamond homologs: Q14746, Q921L5, Q9VF78

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COG2	“form complex”	“COG tethering complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 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	24.0×	5e-04
Retrograde transport at the Trans-Golgi-Network	5	20.3×	5e-04
COPI-mediated anterograde transport	6	12.2×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	5	20.3×	9e-04
Golgi organization	8	12.9×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	3
Uncertain significance	126
Likely benign	93
Benign	50

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1970272	NM_007357.3(COG2):c.260del (p.Gln87fs)	Pathogenic
3251550	NC_000001.10:g.(230814799_230819319)_(230820983_230822680)del	Pathogenic
3727680	NM_007357.3(COG2):c.523delinsCAGGCCCATACAGGTGCAATGGTTTTCTGGAGCACCTGTATGCTC (p.Thr175fs)	Pathogenic
4689533	NC_000001.10:g.(?230778226)(230829729_?)del	Pathogenic
4753913	NM_007357.3(COG2):c.1509del (p.Lys503fs)	Pathogenic
568944	NM_007357.3(COG2):c.436dup (p.Ile146fs)	Pathogenic
1691000	NM_007357.3(COG2):c.48C>A (p.Cys16Ter)	Likely pathogenic
4085417	NM_007357.3(COG2):c.1279AGG[1] (p.Arg428del)	Likely pathogenic
996958	NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)	Likely pathogenic

SpliceAI

2839 predictions. Top by Δscore:

Variant	Effect	Δscore
1:230642664:G:GT	donor_gain	1.0000
1:230658862:A:AG	donor_gain	1.0000
1:230658862:A:G	donor_gain	1.0000
1:230659460:TCAG:T	acceptor_loss	1.0000
1:230659461:CAGG:C	acceptor_loss	1.0000
1:230659462:A:AG	acceptor_gain	1.0000
1:230659462:A:G	acceptor_loss	1.0000
1:230659463:G:GG	acceptor_gain	1.0000
1:230659463:G:GT	acceptor_loss	1.0000
1:230659463:GGAA:G	acceptor_gain	1.0000
1:230659590:G:GT	donor_gain	1.0000
1:230659590:GAT:G	donor_loss	1.0000
1:230659621:ACTTG:A	donor_gain	1.0000
1:230659622:CTTGG:C	donor_loss	1.0000
1:230659623:TTGG:T	donor_loss	1.0000
1:230659624:TGGT:T	donor_loss	1.0000
1:230659626:G:C	donor_loss	1.0000
1:230659626:G:GG	donor_gain	1.0000
1:230660755:TA:T	acceptor_loss	1.0000
1:230660820:TCTGG:T	donor_loss	1.0000
1:230660821:CTGGT:C	donor_loss	1.0000
1:230660822:TGGT:T	donor_loss	1.0000
1:230660824:G:GG	donor_gain	1.0000
1:230660824:G:T	donor_loss	1.0000
1:230660825:T:TC	donor_loss	1.0000
1:230663137:A:AG	acceptor_gain	1.0000
1:230663138:A:AG	acceptor_gain	1.0000
1:230663139:A:G	acceptor_gain	1.0000
1:230663139:A:T	acceptor_loss	1.0000
1:230663140:G:GA	acceptor_gain	1.0000

AlphaMissense

4852 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:230659602:T:C	F71L	1.000
1:230659604:T:A	F71L	1.000
1:230659604:T:G	F71L	1.000
1:230659537:T:C	L49P	0.999
1:230659566:G:C	A59P	0.999
1:230659579:T:C	L63P	0.999
1:230659603:T:C	F71S	0.999
1:230659612:T:C	L74P	0.999
1:230659558:T:C	L56P	0.998
1:230659582:T:A	I64N	0.998
1:230659582:T:G	I64S	0.998
1:230659603:T:G	F71C	0.998
1:230659606:T:A	V72D	0.998
1:230659624:T:C	L78S	0.998
1:230688552:G:C	R595T	0.998
1:230691440:T:C	L664P	0.998
1:230642671:T:C	F22S	0.997
1:230659470:T:C	F27L	0.997
1:230659472:C:A	F27L	0.997
1:230659472:C:G	F27L	0.997
1:230659486:T:C	F32S	0.997
1:230659525:T:C	L45P	0.997
1:230659582:T:C	I64T	0.997
1:230659612:T:A	L74H	0.997
1:230688545:T:G	Y593D	0.997
1:230688549:G:C	R594P	0.997
1:230642656:T:C	F17S	0.996
1:230659537:T:A	L49Q	0.996
1:230675047:T:A	W317R	0.996
1:230675047:T:C	W317R	0.996

dbSNP variants (sampled 300 via entrez): RS1000288979 (1:230690779 T>C), RS10002986 (1:230655934 G>C,T), RS1000303273 (1:230660084 G>A), RS1000334967 (1:230678492 C>A,T), RS1000361558 (1:230644630 CTG>C), RS1000415483 (1:230644412 G>T), RS1000453977 (1:230653806 A>G), RS1000464099 (1:230687437 T>C), RS1000509104 (1:230642018 A>T), RS1000549790 (1:230666907 C>T), RS1000553853 (1:230692294 T>C), RS1000595287 (1:230654077 C>T), RS1000603167 (1:230659818 A>G), RS1000694767 (1:230643415 C>T), RS1000772286 (1:230673818 G>C)

Disease associations

OMIM: gene MIM:606974 | disease phenotypes: MIM:617395

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital disorder of glycosylation, type IIq	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
congenital disorder of glycosylation, type IIq	Limited	AR

Mondo (1): congenital disorder of glycosylation, type IIq (MONDO:0054559)

Orphanet (1): COG2-CDG (Orphanet:435934)

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001410	Decreased liver function
HP:0001999	Abnormal facial shape
HP:0002079	Hypoplasia of the corpus callosum
HP:0002361	Psychomotor deterioration
HP:0002506	Diffuse cerebral atrophy
HP:0002510	Spastic tetraplegia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003256	Abnormality of the coagulation cascade
HP:0003593	Infantile onset
HP:0005484	Secondary microcephaly
HP:0010818	Generalized tonic seizure
HP:0010837	Decreased circulating ceruloplasmin concentration
HP:0011967	Decreased circulating copper concentration
HP:0012345	Abnormal glycosylation
HP:0012506	Small pituitary gland

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008359_10	Response to cognitive-behavioural therapy in anxiety disorder	8.000000e-06
GCST012437_1	Interleukin-6 gene expression levels in non-alcoholic fatty liver disease x mastiha supplementation interaction	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy
EFO:0600067	mastiha supplement exposure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067120 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.46	Kd	3452	nM	CHEMBL3752910
5.46	ED50	3452	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149841: Binding affinity to human COG2 incubated for 45 mins by Kinobead based pull down assay	kd	3.4524	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
sodium arsenite	decreases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, affects expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, decreases methylation	1
arsenite	affects binding, decreases reaction	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	increases reaction, affects binding	1
bisphenol S	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Antimycin A	decreases expression	1
Atrazine	decreases expression	1
Cadmium	increases abundance, increases expression	1
Diethylhexyl Phthalate	increases abundance, increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652883	Binding	Binding affinity to human COG2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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