COG1
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Also known as KIAA1381
Summary
COG1 (component of oligomeric golgi complex 1, HGNC:6545) is a protein-coding gene on chromosome 17q25.1, encoding Conserved oligomeric Golgi complex subunit 1 (Q8WTW3). Required for normal Golgi function. It is a selective cancer dependency (DepMap: 52.8% of cell lines).
The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex.
Source: NCBI Gene 9382 — RefSeq curated summary.
At a glance
- Gene–disease (curated): COG1-congenital disorder of glycosylation (Definitive, GenCC)
- Clinical variants (ClinVar): 508 total — 12 pathogenic, 5 likely-pathogenic
- Phenotypes (HPO): 91
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 52.8% of screened cell lines
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
- MANE Select transcript:
NM_018714
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6545 |
| Approved symbol | COG1 |
| Name | component of oligomeric golgi complex 1 |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1381 |
| Ensembl gene | ENSG00000166685 |
| Ensembl biotype | protein_coding |
| OMIM | 606973 |
| Entrez | 9382 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 10 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000299886, ENST00000438720, ENST00000577238, ENST00000577844, ENST00000580271, ENST00000582512, ENST00000582587, ENST00000582672, ENST00000582973, ENST00000876963, ENST00000876964, ENST00000876965, ENST00000923183, ENST00000947884, ENST00000947885
RefSeq mRNA: 1 — MANE Select: NM_018714
NM_018714
CCDS: CCDS11692
Canonical transcript exons
ENST00000299886 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001105601 | 73206708 | 73206817 |
| ENSE00001105604 | 73197226 | 73197396 |
| ENSE00001105614 | 73196507 | 73196751 |
| ENSE00001105619 | 73203632 | 73203793 |
| ENSE00001105631 | 73201109 | 73201900 |
| ENSE00001105640 | 73205553 | 73205680 |
| ENSE00001105647 | 73203000 | 73203146 |
| ENSE00001105651 | 73196900 | 73197081 |
| ENSE00001136834 | 73200566 | 73200776 |
| ENSE00001136838 | 73199865 | 73200021 |
| ENSE00002719633 | 73193055 | 73193384 |
| ENSE00003501326 | 73207181 | 73207256 |
| ENSE00003525871 | 73206154 | 73206262 |
| ENSE00003601993 | 73208314 | 73208507 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 95.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.9904 / max 128.3385, expressed in 1810 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162563 | 22.9904 | 1810 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 95.76 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.68 | gold quality |
| apex of heart | UBERON:0002098 | 95.64 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.59 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.05 | gold quality |
| cerebellum | UBERON:0002037 | 95.00 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.91 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.83 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.69 | gold quality |
| pituitary gland | UBERON:0000007 | 94.54 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.34 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.25 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.00 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.83 | gold quality |
| body of pancreas | UBERON:0001150 | 93.72 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.70 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.55 | gold quality |
| right uterine tube | UBERON:0001302 | 93.54 | gold quality |
| amygdala | UBERON:0001876 | 93.48 | gold quality |
| putamen | UBERON:0001874 | 93.35 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.30 | gold quality |
| frontal cortex | UBERON:0001870 | 93.27 | gold quality |
| frontal lobe | UBERON:0016525 | 93.27 | gold quality |
| muscle of leg | UBERON:0001383 | 93.08 | gold quality |
| endocervix | UBERON:0000458 | 92.99 | gold quality |
| neocortex | UBERON:0001950 | 92.95 | gold quality |
| right ovary | UBERON:0002118 | 92.90 | gold quality |
| left ovary | UBERON:0002119 | 92.69 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.48 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.71 |
| E-MTAB-10137 | no | 516.06 |
Regulation
Is transcription factor: no
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 52.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp (PMID:11929878)
- These findings support the proposal that COG is directly involved in controlling vesicular retrograde transport of Golgi resident proteins throughout the Golgi apparatus. (PMID:16857184)
- A novel mutation in COG1 was found in two patients with a cerebrocostomandibular-like syndrome. (PMID:19008299)
- This study reports a novel set of Dengue virus (DENV) NS1-interacting host cell proteins in the HepG2 cell line and proposes possible roles for human NEK2, TAO1, and COG1 in DENV infection. (PMID:27108190)
- Chronic renal patients with more atherogenic lipoprotein LDL B phenotype are in advanced state of oxidative stress compared with control subjects. (PMID:27412679)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cog1 | ENSDARG00000105131 |
| mus_musculus | Cog1 | ENSMUSG00000018661 |
| rattus_norvegicus | Cog1 | ENSRNOG00000002795 |
| drosophila_melanogaster | Cog1 | FBGN0037998 |
| caenorhabditis_elegans | cogc-1 | WBGENE00003258 |
Protein
Protein identifiers
Conserved oligomeric Golgi complex subunit 1 — Q8WTW3 (reviewed: Q8WTW3)
Alternative names: Component of oligomeric Golgi complex 1
All UniProt accessions (6): E9PBL8, J3KRP4, J3KSY3, J3QKY9, J3QLT5, Q8WTW3
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 2G (CDG2G) [MIM:611209] 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. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the COG1 family.
RefSeq proteins (1): NP_061184* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR033370 | COG1 | Family |
Pfam: PF08700
UniProt features (7 total): sequence variant 3, modified residue 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WTW3-F1 | 77.82 | 0.40 |
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, 7
Function
Pathways and Gene Ontology
Reactome pathways
4 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 |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
MSigDB gene sets: 289 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_GOLGI_ORGANIZATION, GOCC_GOLGI_TRANSPORT_COMPLEX, GOCC_TRANS_GOLGI_NETWORK_MEMBRANE, GOCC_ORGANELLE_SUBCOMPARTMENT, GOBP_GOLGI_VESICLE_TRANSPORT, HATADA_METHYLATED_IN_LUNG_CANCER_UP, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION
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 (1): protein binding (GO:0005515)
GO Cellular Component (5): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), COG complex (GO:0017119), trans-Golgi network membrane (GO:0032588), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 2 |
| ER to Golgi Anterograde Transport | 1 |
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| 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 |
| binding | 1 |
| bounding membrane of 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
1254 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COG1 | COG5 | Q9UP83 | 996 |
| COG1 | COG2 | Q14746 | 996 |
| COG1 | COG8 | Q96MW5 | 996 |
| COG1 | COG7 | P83436 | 995 |
| COG1 | COG4 | Q9H9E3 | 994 |
| COG1 | COG3 | Q96JB2 | 992 |
| COG1 | COG6 | Q9Y2V7 | 976 |
| COG1 | RINT1 | Q6NUQ1 | 795 |
| COG1 | GOSR2 | O14653 | 726 |
| COG1 | STX5 | Q13190 | 716 |
| COG1 | COPB1 | P53618 | 667 |
| COG1 | STX16 | O14662 | 664 |
| COG1 | VPS51 | Q9UID3 | 656 |
| COG1 | VPS53 | Q5VIR6 | 652 |
| COG1 | GOLPH3 | Q9H4A6 | 632 |
IntAct
95 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ODAD1 | HGS | psi-mi:“MI:0914”(association) | 0.850 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| 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 |
| SLC16A3 | CASK | psi-mi:“MI:0914”(association) | 0.590 |
| COG1 | COG4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COG6 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| CD274 | TTI1 | psi-mi:“MI:0914”(association) | 0.530 |
| GYPB | TCAF2 | 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 |
| 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 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| COG1 | CDC42 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Bap1 | RNF40 | psi-mi:“MI:0914”(association) | 0.350 |
| Sgo2a | SORBS3 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPN1 | ANKRD17 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (147): COG1 (Biochemical Activity), COG1 (Affinity Capture-MS), COG1 (Affinity Capture-MS), COG1 (Affinity Capture-MS), COG1 (Affinity Capture-MS), COG1 (Affinity Capture-MS), COG1 (Affinity Capture-MS), COG1 (Co-fractionation), COG1 (Co-fractionation), COG1 (Co-fractionation), COG1 (Co-fractionation), COG1 (Co-fractionation), COG1 (Co-fractionation), COG7 (Co-fractionation), COG1 (Affinity Capture-MS)
ESM2 similar proteins: A2VDR8, A4IF89, B1AY13, B1WC10, F4HQ84, F4I4B6, F4JHH5, O00471, O15068, O54921, O54924, P0CI65, P83436, P97878, Q14746, Q2TBH9, Q3T1G7, Q3TPX4, Q3UM29, Q5U247, Q5ZJ43, Q62717, Q6DK84, Q6GLR7, Q6NMI3, Q6NUQ1, Q6PGF7, Q7TNH6, Q7Z494, Q80TJ1, Q86UW7, Q8BYR5, Q8BZ36, Q8C0L8, Q8C456, Q8CI04, Q8IYI6, Q8L838, Q8WTW3, Q921L5
Diamond homologs: Q8WTW3, Q9Z160
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| COG1 | “form complex” | “COG tethering complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 108 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 | 7 | 27.1× | 1e-06 |
| Retrograde transport at the Trans-Golgi-Network | 7 | 22.9× | 2e-06 |
| COPI-mediated anterograde transport | 11 | 18.0× | 7e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intra-Golgi vesicle-mediated transport | 5 | 28.9× | 9e-05 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 6 | 22.2× | 4e-05 |
| Golgi organization | 11 | 16.2× | 2e-08 |
| protein transport | 13 | 6.3× | 3e-05 |
| cell surface receptor signaling pathway | 8 | 5.6× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
508 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 12 |
| Likely pathogenic | 5 |
| Uncertain significance | 250 |
| Likely benign | 156 |
| Benign | 37 |
Top pathogenic / likely-pathogenic (17)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1480682 | NM_018714.3(COG1):c.1130del (p.Lys377fs) | Pathogenic |
| 2027635 | NM_018714.3(COG1):c.2686C>T (p.Gln896Ter) | Pathogenic |
| 2028309 | NM_018714.3(COG1):c.254dup (p.Tyr86fs) | Pathogenic |
| 2805911 | NM_018714.3(COG1):c.1091del (p.Asn364fs) | Pathogenic |
| 3243069 | NC_000017.10:g.(?71195984)(71199305_?)del | Pathogenic |
| 3684462 | NM_018714.3(COG1):c.1401dup (p.Glu468Ter) | Pathogenic |
| 3728028 | NM_018714.3(COG1):c.2665del (p.Arg889fs) | Pathogenic |
| 3728286 | NM_018714.3(COG1):c.2665_2666insCG (p.Arg889fs) | Pathogenic |
| 4710995 | NM_018714.3(COG1):c.415C>T (p.Gln139Ter) | Pathogenic |
| 4740975 | NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) | Pathogenic |
| 4764410 | NM_018714.3(COG1):c.1717C>T (p.Gln573Ter) | Pathogenic |
| 4780564 | NM_018714.3(COG1):c.1487del (p.Gly496fs) | Pathogenic |
| 2098246 | NM_018714.3(COG1):c.561-1G>A | Likely pathogenic |
| 450371 | NM_018714.3(COG1):c.2084_2085insCCTGGTAATAAAATGAC (p.His695_Gly696insLeuValIleLysTer) | Likely pathogenic |
| 452106 | NM_018714.3(COG1):c.1823del (p.Leu608fs) | Likely pathogenic |
| 4845691 | NM_018714.3(COG1):c.338del (p.Lys113fs) | Likely pathogenic |
| 4849349 | NM_018714.3(COG1):c.415_416del (p.Gln139fs) | Likely pathogenic |
SpliceAI
2125 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:73193381:GCAG:G | donor_gain | 1.0000 |
| 17:73193382:CAG:C | donor_loss | 1.0000 |
| 17:73193383:AGG:A | donor_loss | 1.0000 |
| 17:73193385:GTCA:G | donor_loss | 1.0000 |
| 17:73193386:T:A | donor_loss | 1.0000 |
| 17:73196479:T:TA | acceptor_gain | 1.0000 |
| 17:73196486:GTTCT:G | acceptor_gain | 1.0000 |
| 17:73200562:GCAGG:G | acceptor_loss | 1.0000 |
| 17:73200563:CAGGT:C | acceptor_loss | 1.0000 |
| 17:73200564:AGGTG:A | acceptor_loss | 1.0000 |
| 17:73200565:GGT:G | acceptor_gain | 1.0000 |
| 17:73200774:CAGGT:C | donor_loss | 1.0000 |
| 17:73200775:AGGTG:A | donor_loss | 1.0000 |
| 17:73200777:GT:G | donor_loss | 1.0000 |
| 17:73200778:T:G | donor_loss | 1.0000 |
| 17:73201897:GAAA:G | donor_gain | 1.0000 |
| 17:73201901:G:GG | donor_gain | 1.0000 |
| 17:73203630:A:AG | acceptor_gain | 1.0000 |
| 17:73203631:G:GA | acceptor_gain | 1.0000 |
| 17:73203631:GC:G | acceptor_gain | 1.0000 |
| 17:73203631:GCC:G | acceptor_gain | 1.0000 |
| 17:73203794:G:GA | donor_loss | 1.0000 |
| 17:73203795:T:A | donor_loss | 1.0000 |
| 17:73205697:G:GT | donor_gain | 1.0000 |
| 17:73206152:A:AG | acceptor_gain | 1.0000 |
| 17:73206152:A:AT | acceptor_loss | 1.0000 |
| 17:73206153:G:GA | acceptor_gain | 1.0000 |
| 17:73206153:GA:G | acceptor_gain | 1.0000 |
| 17:73206153:GAA:G | acceptor_gain | 1.0000 |
| 17:73206153:GAAT:G | acceptor_gain | 1.0000 |
AlphaMissense
6395 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:73193245:T:C | L59P | 0.997 |
| 17:73201253:T:A | W476R | 0.997 |
| 17:73201253:T:C | W476R | 0.997 |
| 17:73206197:T:C | F852L | 0.997 |
| 17:73206199:T:A | F852L | 0.997 |
| 17:73206199:T:G | F852L | 0.997 |
| 17:73206204:T:C | L854P | 0.997 |
| 17:73193212:T:C | L48P | 0.996 |
| 17:73193253:G:C | A62P | 0.996 |
| 17:73200011:T:A | W354R | 0.996 |
| 17:73200011:T:C | W354R | 0.996 |
| 17:73203072:T:A | W716R | 0.996 |
| 17:73203072:T:C | W716R | 0.996 |
| 17:73207182:T:C | F911L | 0.996 |
| 17:73207184:T:A | F911L | 0.996 |
| 17:73207184:T:G | F911L | 0.996 |
| 17:73193158:T:C | I30T | 0.995 |
| 17:73193256:G:C | A63P | 0.995 |
| 17:73206210:T:A | V856D | 0.994 |
| 17:73193158:T:G | I30S | 0.993 |
| 17:73193275:T:C | M69T | 0.993 |
| 17:73201880:T:A | W685R | 0.993 |
| 17:73201880:T:C | W685R | 0.993 |
| 17:73206192:A:G | D850G | 0.993 |
| 17:73193239:G:C | R57P | 0.992 |
| 17:73201358:A:C | S511R | 0.992 |
| 17:73201360:C:A | S511R | 0.992 |
| 17:73201360:C:G | S511R | 0.992 |
| 17:73203139:C:A | P738H | 0.992 |
| 17:73207192:T:A | L914H | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000000100 (17:73197532 C>T), RS1000096890 (17:73204165 T>C), RS1000215245 (17:73207469 C>G,T), RS1000295130 (17:73194570 T>C), RS1000456428 (17:73197855 C>T), RS1000820588 (17:73193364 C>G,T), RS1001117345 (17:73202969 G>A,C), RS1001340831 (17:73203413 G>A), RS1001409233 (17:73199009 C>T), RS1001529501 (17:73206618 G>A), RS1001790525 (17:73203719 C>T), RS1001923742 (17:73208145 G>A,T), RS1002062067 (17:73206888 G>A), RS1002115360 (17:73202173 T>TA), RS1002271206 (17:73207865 A>G)
Disease associations
OMIM: gene MIM:606973 | disease phenotypes: MIM:611209
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| COG1-congenital disorder of glycosylation | Definitive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| COG1-congenital disorder of glycosylation | Moderate | AR |
Mondo (3): COG1-congenital disorder of glycosylation (MONDO:0012637), prostate cancer (MONDO:0008315), intellectual disability (MONDO:0001071)
Orphanet (3): COG1-CDG (Orphanet:263508), Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
91 total (30 of 91 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000083 | Renal insufficiency |
| HP:0000126 | Hydronephrosis |
| HP:0000160 | Narrow mouth |
| HP:0000162 | Glossoptosis |
| HP:0000175 | Cleft palate |
| HP:0000201 | Pierre-Robin sequence |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000274 | Small face |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000402 | Stenosis of the external auditory canal |
| HP:0000405 | Conductive hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000475 | Broad neck |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000520 | Proptosis |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000750 | Delayed speech and language development |
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C535756 | Congenital disorder of glycosylation, type 2G (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105805 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.41 | Kd | 3.9 | nM | CHEMBL3752910 |
| 8.41 | ED50 | 3.9 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 6 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 | 2148104: Binding affinity to human COG1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0039 | uM |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 3 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Thapsigargin | increases expression | 1 |
| Copper Sulfate | 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 |
|---|---|---|---|
| CHEMBL4012601 | Binding | Binding affinity to COG1 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 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A637 | KMS-18 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Associated diseases: COG1-congenital disorder of glycosylation
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): COG1-congenital disorder of glycosylation