Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22796
Gene name	Component of oligomeric golgi complex 2
Gene symbol	COG2
Synonyms (NCBI Gene)	CDG2QLDLC
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

Show/Hide all (3)

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

Show/Hide all (82)

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

Show/Hide all (22)

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

MIM	HGNC	e!Ensembl
606974	6546	ENSG00000135775

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

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorder of glycosylation, type IIq	Pathogenic; Likely pathogenic	rs2527612631, rs1031719032, rs1662986310	RCV002730453 RCV000689452 RCV001291776	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG2-CDG	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG2-RELATED CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39923073	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	26999784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29628482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37861809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	37950256	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COG2-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	Congenital Disorder Of Glycosylation	UNIPROT_DG	24784932		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	Congenital Disorder Of Glycosylation	ORPHANET_DG	24784932		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG	24784932		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	Congenital Disorder Of Glycosylation	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	Congenital Disorder Of Glycosylation	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	24784932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	12754559, 17704557	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25154303, 31707832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37950256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36589806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29695715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28079508, 28610615, 29324354, 30487467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34899591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36589806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	19330934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	28964708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	28104544, 30637778, 36707646, 39337524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	28964708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	19762784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	33207932	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30081869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30637778, 37861809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36139069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22628237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28079508, 30130534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	Pubtator	29998912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30081869		★★★★★ ★☆☆☆☆ Found in Text Mining only

COG2 (component of oligomeric golgi complex 2)