COG7

Summary

COG7 (component of oligomeric golgi complex 7, HGNC:18622) is a protein-coding gene on chromosome 16p12.2, encoding Conserved oligomeric Golgi complex subunit 7 (P83436). Required for normal Golgi function. It is a selective cancer dependency (DepMap: 20.7% of cell lines).

The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.

Source: NCBI Gene 91949 — RefSeq curated summary.

At a glance

• Gene–disease (curated): COG7-congenital disorder of glycosylation (Definitive, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 622 total — 18 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 73
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 20.7% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_153603

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18622
Approved symbol	COG7
Name	component of oligomeric golgi complex 7
Location	16p12.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000168434
Ensembl biotype	protein_coding
OMIM	606978
Entrez	91949

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000307149, ENST00000561854, ENST00000563164, ENST00000566364, ENST00000567821, ENST00000569635, ENST00000887421, ENST00000887422, ENST00000887423, ENST00000887424, ENST00000887425, ENST00000916650, ENST00000916651, ENST00000941094, ENST00000941095, ENST00000941096, ENST00000941097

RefSeq mRNA: 1 — MANE Select: NM_153603 NM_153603

CCDS: CCDS10610

Canonical transcript exons

ENST00000307149 — 17 exons

Exon	Start	End
ENSE00001177155	23416967	23417121
ENSE00001177162	23418700	23418827
ENSE00001177170	23424749	23424947
ENSE00001177177	23433545	23433667
ENSE00001177180	23434636	23434718
ENSE00001177185	23442477	23442645
ENSE00001177192	23445048	23445164
ENSE00001177200	23445813	23445961
ENSE00001283250	23393233	23393347
ENSE00001310303	23452826	23453189
ENSE00001857775	23388493	23389086
ENSE00003472495	23410295	23410360
ENSE00003503765	23392380	23392523
ENSE00003524083	23398046	23398129
ENSE00003556111	23406076	23406262
ENSE00003567633	23403694	23403834
ENSE00003635741	23413448	23413564

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 95.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2875 / max 95.5856, expressed in 1783 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156770	9.2875	1783

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.52	gold quality
adenohypophysis	UBERON:0002196	94.16	gold quality
pituitary gland	UBERON:0000007	94.10	gold quality
lower esophagus mucosa	UBERON:0035834	91.75	gold quality
endocervix	UBERON:0000458	91.64	gold quality
right lobe of thyroid gland	UBERON:0001119	91.64	gold quality
left lobe of thyroid gland	UBERON:0001120	91.09	gold quality
apex of heart	UBERON:0002098	91.01	gold quality
mucosa of transverse colon	UBERON:0004991	90.84	gold quality
thyroid gland	UBERON:0002046	90.61	gold quality
bronchial epithelial cell	CL:0002328	90.58	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.41	gold quality
epithelium of bronchus	UBERON:0002031	90.31	gold quality
bronchus	UBERON:0002185	90.27	gold quality
ectocervix	UBERON:0012249	90.14	gold quality
trachea	UBERON:0003126	89.72	gold quality
right ovary	UBERON:0002118	89.65	gold quality
left ovary	UBERON:0002119	89.53	gold quality
metanephros cortex	UBERON:0010533	89.46	gold quality
transverse colon	UBERON:0001157	89.35	gold quality
body of uterus	UBERON:0009853	89.15	gold quality
minor salivary gland	UBERON:0001830	88.92	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.91	gold quality
body of stomach	UBERON:0001161	88.88	gold quality
right frontal lobe	UBERON:0002810	88.84	gold quality
skin of abdomen	UBERON:0001416	88.79	gold quality
nucleus accumbens	UBERON:0001882	88.76	gold quality
skin of leg	UBERON:0001511	88.70	gold quality
fundus of stomach	UBERON:0001160	88.67	gold quality
granulocyte	CL:0000094	88.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.04
E-ENAD-17	no	654.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting COG7, 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-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-5692A	100.00	74.40	6850
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-3151-3P	97.80	66.16	479
HSA-MIR-6131	97.22	66.72	960
HSA-MIR-635	96.00	65.54	687
HSA-MIR-6774-5P	95.94	65.18	722

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 20.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• COG5- and COG7 subunits play distinctive roles in controlling Golgi structure and function (PMID:16051600)
• Retrograde transport of multiple Golgi proteins to the ER in COG-7-deficient patient fibroblasts via brefeldin A-induced tubules was significantly slower than occurs in normal fibroblasts. (PMID:16510524)
• A homozygous, intronic splice site mutation (c.169+4A>C) of the COG7 gene was identified in 3 patients with Congenital Disorder of Glycosylation type IIe. (PMID:17356545)
• A new mutation in COG7 extends the spectrum of COG subunit deficiencies. (PMID:19577670)
• Targeted silencing of components of lobe B of the COG complex, namely COG5, COG6, COG7 and COG8, inhibited HIV-1 replication (PMID:25179963)
• Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex. (PMID:25331899)
• TMEM-COG4, COG7 and COG8 subunits restore endogenous COG localization to the Golgi membranes (PMID:29467253)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cog7	ENSDARG00000061372
mus_musculus	Cog7	ENSMUSG00000034951
rattus_norvegicus	Cog7	ENSRNOG00000060008
drosophila_melanogaster	Cog7	FBGN0051040

Protein

Protein identifiers

Conserved oligomeric Golgi complex subunit 7 — P83436 (reviewed: P83436)

Alternative names: Component of oligomeric Golgi complex 7

All UniProt accessions (4): P83436, A0A0S2Z652, I3L2R8, I3L337

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal Golgi 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 2E (CDG2E) [MIM:608779] 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. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the COG7 family.

RefSeq proteins (1): NP_705831* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019335	COG7	Family

Pfam: PF10191

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P83436-F1	82.77	0.30

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: 236 (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_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_STABILIZATION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, BALLIF_DEVELOPMENTAL_DISABILITY_P16_P12_DELETION, GOBP_PROTEIN_LOCALIZATION_TO_GOLGI_APPARATUS, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, MORF_IL9, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS

GO Biological Process (11): retrograde transport, vesicle recycling within Golgi (GO:0000301), intracellular protein transport (GO:0006886), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), Golgi organization (GO:0007030), glycoprotein biosynthetic process (GO:0009101), protein localization to organelle (GO:0033365), protein localization to Golgi apparatus (GO:0034067), 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 (6): Golgi membrane (GO:0000139), nucleolus (GO:0005730), Golgi apparatus (GO:0005794), COG complex (GO:0017119), 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
Golgi apparatus	2
intra-Golgi vesicle-mediated transport	1
protein transport	1
intracellular transport	1
Golgi vesicle transport	1
organelle organization	1
endomembrane system organization	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
protein localization to organelle	1
regulation of protein stability	1
transport	1
establishment of protein localization	1
binding	1
bounding membrane of organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
vesicle tethering complex	1
trans-Golgi network	1
organelle membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1304 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COG7	COG5	Q9UP83	998
COG7	COG1	Q8WTW3	995
COG7	COG2	Q14746	995
COG7	COG3	Q96JB2	991
COG7	COG8	Q96MW5	985
COG7	COG4	Q9H9E3	984
COG7	COG6	Q9Y2V7	982
COG7	GOLGA5	Q8TBA6	930
COG7	VPS53	Q5VIR6	769
COG7	GOSR1	O95249	752
COG7	STX5	Q13190	715
COG7	GOSR2	O14653	694
COG7	COPB1	P53618	675
COG7	EXOC3	O60645	653
COG7	STX16	O14662	633

IntAct

101 interactions, top by confidence:

A	B	Type	Score
TAX1BP1	COG7	psi-mi:“MI:0915”(physical association)	0.850
COG7	TAX1BP1	psi-mi:“MI:0915”(physical association)	0.850
COG7	KIFC3	psi-mi:“MI:0915”(physical association)	0.720
COG7	COG4	psi-mi:“MI:0915”(physical association)	0.670
COG4	COG7	psi-mi:“MI:0915”(physical association)	0.670
COG4	COG7	psi-mi:“MI:0914”(association)	0.670
COMMD8	VPS26C	psi-mi:“MI:0914”(association)	0.640
ILVBL	COG7	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
	COG7	psi-mi:“MI:0915”(physical association)	0.560
COG7		psi-mi:“MI:0915”(physical association)	0.560
COG7	MEOX2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (134): COG7 (Two-hybrid), COG7 (Two-hybrid), COG7 (Affinity Capture-MS), COG7 (Affinity Capture-MS), COG7 (Affinity Capture-MS), COG7 (Affinity Capture-MS), COG7 (Affinity Capture-MS), COG7 (Affinity Capture-MS), COG7 (Affinity Capture-MS), COG7 (Co-fractionation), COG7 (Co-fractionation), COG7 (Co-fractionation), COG7 (Co-fractionation), COG7 (Co-fractionation), COG7 (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: A2VDR8, P83436, Q3T1G7, Q3UM29

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COG7	“form complex”	“COG tethering complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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	27.6×	3e-04
Retrograde transport at the Trans-Golgi-Network	5	23.4×	3e-04
COPI-mediated anterograde transport	6	14.0×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
Golgi organization	6	11.6×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	18
Likely pathogenic	8
Uncertain significance	238
Likely benign	266
Benign	31

Top pathogenic / likely-pathogenic (26)

Variant ID	HGVS	Classification
1460044	NC_000016.9:g.(?23464127)(23635435_?)del	Pathogenic
196587	NM_153603.4(COG7):c.323dup (p.Leu108fs)	Pathogenic
2004610	NM_153603.4(COG7):c.1375del (p.Gln459fs)	Pathogenic
2113880	NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer)	Pathogenic
2120057	NM_153603.4(COG7):c.1255dup (p.Cys419fs)	Pathogenic
2773270	NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)	Pathogenic
2775952	NM_153603.4(COG7):c.1498dup (p.Tyr500fs)	Pathogenic
2813995	NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)	Pathogenic
3243501	NC_000016.9:g.(?23417377)(23417603_?)del	Pathogenic
3615091	NM_153603.4(COG7):c.1702C>T (p.Arg568Ter)	Pathogenic
3650	NM_153603.4(COG7):c.169+4A>C	Pathogenic
3656005	NM_153603.4(COG7):c.343_344insTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCGCTCCCTCTCCCGGCTCCCGCTCCCGCTCCCGGGGCCCTCTCCCGCGCGCGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAATTGACCAAGTGA (p.Lys115delinsIleProLeuProLeuProSerProSerProSerProValSerArgSerLeuSerArgLeuProLeuProLeuProGlyProSerProAlaArgGlyXaaXaaXaaXaaLysLysLysLysLysLysArgAsnTer)	Pathogenic
3671796	NM_153603.4(COG7):c.79G>T (p.Glu27Ter)	Pathogenic
4715337	NM_153603.4(COG7):c.669C>A (p.Tyr223Ter)	Pathogenic
4730928	NM_153603.4(COG7):c.1673C>A (p.Ser558Ter)	Pathogenic
4803547	NM_153603.4(COG7):c.1999C>T (p.Gln667Ter)	Pathogenic
489365	NM_153603.4(COG7):c.1321C>T (p.Gln441Ter)	Pathogenic
548708	NM_153603.4(COG7):c.1476-1G>T	Pathogenic
1184980	NM_153603.4(COG7):c.1046A>G (p.Asp349Gly)	Likely pathogenic
1676422	NM_153603.4(COG7):c.318+1G>A	Likely pathogenic
1986961	NM_153603.4(COG7):c.687+1G>A	Likely pathogenic
2020320	NM_153603.4(COG7):c.1410-2A>T	Likely pathogenic
2813996	NM_153603.4(COG7):c.848T>G (p.Leu283Arg)	Likely pathogenic
3615150	NM_153603.4(COG7):c.1887+1G>A	Likely pathogenic
374753	NM_153603.4(COG7):c.1166_1167insT (p.Gln389fs)	Likely pathogenic
4692143	NM_153603.4(COG7):c.1009+1G>A	Likely pathogenic

SpliceAI

2849 predictions. Top by Δscore:

Variant	Effect	Δscore
16:23389083:TAGT:T	acceptor_gain	1.0000
16:23389084:AGT:A	acceptor_gain	1.0000
16:23389085:GT:G	acceptor_gain	1.0000
16:23389085:GTC:G	acceptor_loss	1.0000
16:23389086:TC:T	acceptor_loss	1.0000
16:23389087:C:CA	acceptor_loss	1.0000
16:23389087:C:CC	acceptor_gain	1.0000
16:23389096:C:CT	acceptor_gain	1.0000
16:23392419:G:C	donor_gain	1.0000
16:23392519:ATCCC:A	acceptor_gain	1.0000
16:23392520:TCCC:T	acceptor_gain	1.0000
16:23392521:CCC:C	acceptor_gain	1.0000
16:23392521:CCCC:C	acceptor_gain	1.0000
16:23392522:CC:C	acceptor_gain	1.0000
16:23392522:CCC:C	acceptor_gain	1.0000
16:23392523:CC:C	acceptor_gain	1.0000
16:23392523:CCT:C	acceptor_loss	1.0000
16:23392524:C:CC	acceptor_gain	1.0000
16:23392524:C:CG	acceptor_loss	1.0000
16:23392525:T:G	acceptor_loss	1.0000
16:23393228:CTTA:C	donor_loss	1.0000
16:23393230:TA:T	donor_loss	1.0000
16:23393231:A:AC	donor_gain	1.0000
16:23393231:A:C	donor_loss	1.0000
16:23393231:AC:A	donor_gain	1.0000
16:23393232:C:CC	donor_gain	1.0000
16:23393232:CC:C	donor_gain	1.0000
16:23393232:CCCTG:C	donor_gain	1.0000
16:23393343:CCGAT:C	acceptor_gain	1.0000
16:23393344:CGAT:C	acceptor_gain	1.0000

AlphaMissense

5085 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:23445092:A:G	W131R	1.000
16:23445092:A:T	W131R	1.000
16:23452864:A:G	L44P	1.000
16:23392469:G:T	A686D	0.999
16:23392485:A:G	W681R	0.999
16:23392485:A:T	W681R	0.999
16:23393344:C:A	G631W	0.999
16:23434676:C:G	R216P	0.999
16:23442620:A:G	L154P	0.999
16:23445101:C:G	A128P	0.999
16:23445883:A:G	L83P	0.999
16:23445893:C:G	A80P	0.999
16:23452858:A:G	L46P	0.999
16:23452949:A:G	W16R	0.999
16:23452949:A:T	W16R	0.999
16:23389080:A:G	L718P	0.998
16:23392394:A:G	L711P	0.998
16:23393325:A:G	L637P	0.998
16:23393343:C:T	G631E	0.998
16:23393344:C:G	G631R	0.998
16:23393344:C:T	G631R	0.998
16:23434664:A:G	L220P	0.998
16:23442530:A:G	L184P	0.998
16:23445090:C:A	W131C	0.998
16:23445090:C:G	W131C	0.998
16:23445109:A:G	L125P	0.998
16:23445160:A:G	L108S	0.998
16:23452835:C:G	A54P	0.998
16:23452947:C:A	W16C	0.998
16:23452947:C:G	W16C	0.998

dbSNP variants (sampled 300 via entrez): RS1000057384 (16:23448545 C>G,T), RS1000105703 (16:23397437 C>T), RS1000196351 (16:23414722 G>A,C), RS1000258517 (16:23391455 G>A,T), RS1000273122 (16:23411336 C>T), RS1000303654 (16:23436387 G>A), RS1000310875 (16:23414878 G>T), RS1000430050 (16:23448283 G>C), RS1000430534 (16:23429982 C>A,G,T), RS1000431322 (16:23421631 C>T), RS1000443570 (16:23419632 C>T), RS1000462548 (16:23430341 T>C), RS1000531011 (16:23427746 C>G), RS1000546640 (16:23422635 G>C), RS1000669653 (16:23440759 G>A)

Disease associations

OMIM: gene MIM:606978 | disease phenotypes: MIM:608779

GenCC curated gene-disease

Disease	Classification	Inheritance
COG7-congenital disorder of glycosylation	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
COG7-congenital disorder of glycosylation	Definitive	AR

Mondo (1): COG7-congenital disorder of glycosylation (MONDO:0012118)

Orphanet (1): COG7-CDG (Orphanet:79333)

HPO phenotypes

73 total (30 of 73 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000011	Neurogenic bladder
HP:0000077	Abnormality of the kidney
HP:0000126	Hydronephrosis
HP:0000160	Narrow mouth
HP:0000253	Progressive microcephaly
HP:0000278	Retrognathia
HP:0000294	Low anterior hairline
HP:0000319	Smooth philtrum
HP:0000341	Narrow forehead
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000445	Wide nose
HP:0000470	Short neck
HP:0000582	Upslanted palpebral fissure
HP:0000952	Jaundice
HP:0000998	Hypertrichosis
HP:0001167	Abnormal finger morphology
HP:0001181	Adducted thumb
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001265	Hyporeflexia
HP:0001272	Cerebellar atrophy
HP:0001284	Areflexia
HP:0001290	Generalized hypotonia
HP:0001410	Decreased liver function
HP:0001433	Hepatosplenomegaly
HP:0001508	Failure to thrive
HP:0001510	Growth delay

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002789_3	Egg allergy	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007018	egg allergy measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535754	Congenital disorder of glycosylation type 2E (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105843 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.75	Kd	17.96	nM	CHEMBL3752910
7.75	ED50	17.96	nM	CHEMBL3752910
5.43	Kd	3709	nM	CHEMBL5653589
5.43	ED50	3709	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 6 total; 2 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	2148109: Binding affinity to human COG7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0180	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148109: Binding affinity to human COG7 incubated for 45 mins by Kinobead based pull down assay	kd	3.7088	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment, affects expression, increases abundance, decreases expression (+1 more)	4
Acetaminophen	decreases expression	3
Valproic Acid	decreases expression, increases expression	2
ginger extract	affects expression, increases abundance, affects cotreatment	1
2,4,6-tribromophenol	decreases expression	1
uranyl acetate	affects expression	1
decabromobiphenyl ether	increases expression	1
sodium arsenite	decreases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1
Phthalic Acids	decreases methylation	1
Plant Extracts	increases expression, affects cotreatment	1
Selenium	increases expression	1
Uranium	affects expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Lactic Acid	decreases 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
CHEMBL4012605	Binding	Binding affinity to COG7 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.