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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22796
Gene name Gene Name - the full gene name approved by the HGNC.	Component of oligomeric golgi complex 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COG2
Synonyms (NCBI Gene) Gene synonyms aliases	CDG2Q, LDLC
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CDG2Q
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q42.2
Summary Summary of gene provided in NCBI Entrez Gene.	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(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	15047703, 31515488, 32296183
GO:0005795	Component	Golgi stack	IDA	7962052
GO:0005829	Component	Cytosol	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA	21873635
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IMP	7962052
GO:0007030	Process	Golgi organization	IBA	21873635
GO:0007030	Process	Golgi organization	IMP	7962052
GO:0015031	Process	Protein transport	IEA
GO:0017119	Component	Golgi transport complex	IBA	21873635
GO:0017119	Component	Golgi transport complex	IDA	15047703
GO:0017119	Component	Golgi transport complex	IMP	7962052
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0044877	Function	Protein-containing complex binding	IEA

MIM	HGNC	e!Ensembl
606974	6546	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

Interactions

View interactions

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq, COG2-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)	24784932
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ulcerative colitis	Ulcerative colitis			GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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

COG2 (component of oligomeric golgi complex 2)