COG2 (component of oligomeric golgi complex 2)

Gene

• Entrez ID: 22796
• Gene name: Component of oligomeric golgi complex 2
• Gene symbol: COG2
• Synonyms (NCBI Gene): CDG2Q, LDLC
• Chromosome: 1
• Chromosome location: 1q42.2
• Summary: 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 necessar

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1031719032	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1085307116	->A	Pathogenic	Stop gained, coding sequence variant
rs1085307117	T>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020037	hsa-miR-375	Microarray	20215506
MIRT021018	hsa-miR-155-5p	Proteomics	18668040
MIRT045156	hsa-miR-186-5p	CLASH	23622248
MIRT902092	hsa-miR-1254	CLIP-seq
MIRT902093	hsa-miR-2113	CLIP-seq
MIRT902094	hsa-miR-3116	CLIP-seq
MIRT902095	hsa-miR-3119	CLIP-seq
MIRT902096	hsa-miR-3140-3p	CLIP-seq
MIRT902097	hsa-miR-3148	CLIP-seq
MIRT902098	hsa-miR-3157-5p	CLIP-seq
MIRT902099	hsa-miR-3688-3p	CLIP-seq
MIRT902100	hsa-miR-4476	CLIP-seq
MIRT902101	hsa-miR-4666-3p	CLIP-seq
MIRT902102	hsa-miR-599	CLIP-seq
MIRT902103	hsa-miR-651	CLIP-seq
MIRT902104	hsa-miR-942	CLIP-seq
MIRT1921966	hsa-miR-3135b	CLIP-seq
MIRT1967609	hsa-miR-1266	CLIP-seq
MIRT1967610	hsa-miR-1284	CLIP-seq
MIRT1967611	hsa-miR-1287	CLIP-seq
MIRT1967612	hsa-miR-24	CLIP-seq
MIRT1967613	hsa-miR-300	CLIP-seq
MIRT1921966	hsa-miR-3135b	CLIP-seq
MIRT1967614	hsa-miR-3145-3p	CLIP-seq
MIRT1967615	hsa-miR-3155	CLIP-seq
MIRT1967616	hsa-miR-3155b	CLIP-seq
MIRT1967617	hsa-miR-376a	CLIP-seq
MIRT1967618	hsa-miR-376b	CLIP-seq
MIRT1967619	hsa-miR-381	CLIP-seq
MIRT1967620	hsa-miR-3925-5p	CLIP-seq
MIRT1967621	hsa-miR-4270	CLIP-seq
MIRT1967622	hsa-miR-4431	CLIP-seq
MIRT1967623	hsa-miR-4438	CLIP-seq
MIRT1967624	hsa-miR-4441	CLIP-seq
MIRT1967625	hsa-miR-4518	CLIP-seq
MIRT1967626	hsa-miR-4639-5p	CLIP-seq
MIRT902101	hsa-miR-4666-3p	CLIP-seq
MIRT1967627	hsa-miR-4761-3p	CLIP-seq
MIRT1967628	hsa-miR-4765	CLIP-seq
MIRT1967629	hsa-miR-4773	CLIP-seq
MIRT1967630	hsa-miR-4797-5p	CLIP-seq
MIRT1967631	hsa-miR-484	CLIP-seq
MIRT1967632	hsa-miR-5095	CLIP-seq
MIRT1967633	hsa-miR-664	CLIP-seq
MIRT1967634	hsa-miR-671-5p	CLIP-seq
MIRT2506258	hsa-miR-128	CLIP-seq
MIRT1967610	hsa-miR-1284	CLIP-seq
MIRT2506259	hsa-miR-135a	CLIP-seq
MIRT2506260	hsa-miR-135b	CLIP-seq
MIRT2506261	hsa-miR-2117	CLIP-seq
MIRT2506262	hsa-miR-2392	CLIP-seq
MIRT1967613	hsa-miR-300	CLIP-seq
MIRT2506263	hsa-miR-3154	CLIP-seq
MIRT2506264	hsa-miR-3605-5p	CLIP-seq
MIRT2506265	hsa-miR-377	CLIP-seq
MIRT1967619	hsa-miR-381	CLIP-seq
MIRT2506266	hsa-miR-3919	CLIP-seq
MIRT2506267	hsa-miR-3942-3p	CLIP-seq
MIRT2506268	hsa-miR-4433	CLIP-seq
MIRT902101	hsa-miR-4666-3p	CLIP-seq
MIRT2506269	hsa-miR-4753-3p	CLIP-seq
MIRT2506270	hsa-miR-4756-3p	CLIP-seq
MIRT1967627	hsa-miR-4761-3p	CLIP-seq
MIRT2506271	hsa-miR-665	CLIP-seq
MIRT2506272	hsa-miR-765	CLIP-seq
MIRT2506258	hsa-miR-128	CLIP-seq
MIRT1967610	hsa-miR-1284	CLIP-seq
MIRT2506259	hsa-miR-135a	CLIP-seq
MIRT2506260	hsa-miR-135b	CLIP-seq
MIRT2506261	hsa-miR-2117	CLIP-seq
MIRT2506262	hsa-miR-2392	CLIP-seq
MIRT2506263	hsa-miR-3154	CLIP-seq
MIRT2506264	hsa-miR-3605-5p	CLIP-seq
MIRT2506265	hsa-miR-377	CLIP-seq
MIRT2506266	hsa-miR-3919	CLIP-seq
MIRT2506267	hsa-miR-3942-3p	CLIP-seq
MIRT2506268	hsa-miR-4433	CLIP-seq
MIRT2506269	hsa-miR-4753-3p	CLIP-seq
MIRT2506270	hsa-miR-4756-3p	CLIP-seq
MIRT1967627	hsa-miR-4761-3p	CLIP-seq
MIRT2506271	hsa-miR-665	CLIP-seq
MIRT2506272	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	NAS	27066481
GO:0000139	Component	Golgi membrane	TAS
GO:0000301	Process	Retrograde transport, vesicle recycling within Golgi	IMP	27066481
GO:0005515	Function	Protein binding	IPI	15047703, 25416956, 31515488, 32296183, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IDA	7962052
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IMP	7962052
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IEA
GO:0007030	Process	Golgi organization	IMP	7962052, 27066481
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0017119	Component	Golgi transport complex	IBA
GO:0017119	Component	Golgi transport complex	IDA	15047703
GO:0017119	Component	Golgi transport complex	IEA
GO:0017119	Component	Golgi transport complex	IMP	7962052
GO:0017119	Component	Golgi transport complex	NAS	27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0070085	Process	Glycosylation	IMP	27066481

Other IDs

• MIM: 606974
• HGNC: 6546
• e!Ensembl: ENSG00000135775

Protein

• UniProt ID: Q14746
• Protein name: Conserved oligomeric Golgi complex subunit 2 (COG complex subunit 2) (Component of oligomeric Golgi complex 2) (Low density lipoprotein receptor defect C-complementing protein)
• Protein function: Required for normal Golgi morphology and function.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06148	COG2	15 → 147	COG (conserved oligomeric Golgi) complex component, COG2	Family
  PF12022	DUF3510	573 → 699	Domain of unknown function (DUF3510)	Family

• Sequence:

  MEKSRMNLPKGPDTLCFDKDEFMKEDFDVDHFVSDCRKRVQLEELRDDLELYYKLLKTAM
  VELINKDYADFVNLSTNLVGMDKALNQLSVPLGQLREEVLSLRSSVSEGIRAVDERMSKQ
  EDIRKKKMCVLRLIQVIRSVEKIEKILNSQSSKETSALEASSPLLTGQILERIATEFNQL
  QFHAVQSKGMPLLDKVRPRIAGITAMLQQSLEGLLLEGLQTSDVDIIRHCLRTYATIDKT
  RDAEALVGQVLVKPYIDEVIIEQFVESHPNGLQVMYNKLLEFVPHHCRLLREVTGGAISS
  EKGNTVPGYDFLVNSVWPQIVQGLEEKLPSLFNPGNPDAFHEKYTISMDFVRRLERQCGS
  QASVKRLRAHPAYHSFNKKWNLPVYFQIRFREIAGSLEAALTDVLEDAPAESPYCLLASH
  RTWSSLRRCWSDEMFLPLLVHRLWRLTLQILARYSVFVNELSLRPISNESPKEIKKPLVT
  GSKEPSITQGNTEDQGSGPSETKPVVSISRTQLVYVVADLDKLQEQLPELLEIIKPKLEM
  IGFKNFSSISAALEDSQSSFSACVPSLSSKIIQDLSDSCFGFLKSALEVPRLYRRTNKEV
  PTTASSYVDSALKPLFQLQSGHKDKLKQAIIQQWLEGTLSESTHKYYETVSDVLNSVKKM
  EESLKRLKQARKTTPANPVGPSGGMSDDDKIRLQLALDVEYLGEQIQKLGLQASDIKSFS
  ALAELVAAAKDQATAEQP

• Sequence length: 738

Pathways

Reactome:

COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Congenital disorder of glycosylation, type IIq	Pathogenic; Likely pathogenic	rs2527612631, rs1031719032, rs1662986310	RCV002730453 RCV000689452 RCV001291776
See cases	Likely pathogenic	rs2102736333	RCV002252592

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs3789661, rs77326385, rs138149289	RCV005920497 RCV005910241 RCV005907397
Adrenocortical carcinoma, hereditary	Benign	rs11558606	RCV005914049
Cervical cancer	Benign	rs77326385	RCV005910243
Cholangiocarcinoma	Benign	rs11558606	RCV005914055
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs11558606	RCV005914057
Clear cell carcinoma of kidney	Benign	rs77326385	RCV005910244
COG2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs143945965, rs113173809, rs16852160, rs34010781, rs143526339, rs201791868, rs557988820	RCV003950930 RCV003935565 RCV003928301 RCV004758104 RCV003970819 RCV003957960 RCV003910458
Colon adenocarcinoma	Benign	rs11558606, rs77326385	RCV005914046 RCV005910240
Colorectal cancer	Benign	rs11558606	RCV005914052
Familial cancer of breast	Benign	rs2493125, rs3789661	RCV005921759 RCV005920496
Familial pancreatic carcinoma	Benign	rs11558606	RCV005914051
Gastric cancer	Benign	rs2493125, rs3789661, rs77326385	RCV005921761 RCV005920500 RCV005910246
Hepatocellular carcinoma	Benign	rs11558606, rs77326385	RCV005914047 RCV005910242
Lung cancer	Benign	rs77326385	RCV005910250
Malignant lymphoma, large B-cell, diffuse	Benign	rs2493125, rs3789661	RCV005921760 RCV005920498
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs11558606, rs143526339	RCV005914048 RCV005910202
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs77326385, rs143526339	RCV005910247 RCV005910203
Sarcoma	Benign	rs3789661, rs77326385	RCV005920499 RCV005910245
Thymoma	Benign	rs11558606, rs77326385	RCV005914054 RCV005910248
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs77326385, rs143526339	RCV005910249 RCV005910205
Uterine carcinosarcoma	Benign; Likely benign	rs11558606, rs2493125, rs3789661, rs143526339	RCV005914053 RCV005921762 RCV005920501 RCV005910204
Uterine corpus endometrial carcinoma	Benign	rs11558606, rs3789661, rs77326385	RCV005914056 RCV005920502 RCV005910251
Uveal melanoma	Benign	rs11558606, rs2478534	RCV005914050 RCV005911478

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Stimulate	39923073
Cardiovascular Diseases	Associate	37861809
Cerebral Small Vessel Diseases	Stimulate	37950256
Coronary Artery Disease	Stimulate	12754559, 17704557
Dementia	Associate	37950256
Diabetes Mellitus Type 1	Associate	36589806
Fatty Liver	Associate	34899591
Glomerulonephritis IGA	Associate	36589806
Hyperlipoproteinemia Type II	Associate	28104544, 30637778, 36707646, 39337524
Hypobetalipoproteinemias	Inhibit	33207932
Myocardial Infarction	Associate	30637778, 37861809
Myotonic Dystrophy	Associate	36139069
Norrie disease	Associate	39923073
Obesity	Associate	22628237
Overweight	Associate	22628237
Sitosterolemia	Associate	29998912