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	84342
Gene name	Component of oligomeric golgi complex 8
Gene symbol	COG8
Synonyms (NCBI Gene)	CDG2HDOR1
Chromosome	16
Chromosome location	16q22.1
Summary	This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modificatio

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72795277	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs113642086	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs779899559	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs890271209	A>C,G	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1597225261	C>A	Likely-pathogenic	Splice donor variant

154

Show/Hide all (154)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045035	hsa-miR-186-5p	CLASH	23622248
MIRT902324	hsa-miR-145	CLIP-seq
MIRT902325	hsa-miR-182	CLIP-seq
MIRT902326	hsa-miR-187	CLIP-seq
MIRT902327	hsa-miR-2110	CLIP-seq
MIRT902328	hsa-miR-217	CLIP-seq
MIRT902329	hsa-miR-2355-3p	CLIP-seq
MIRT902330	hsa-miR-3074-5p	CLIP-seq
MIRT902331	hsa-miR-3119	CLIP-seq
MIRT902332	hsa-miR-3122	CLIP-seq
MIRT902333	hsa-miR-3127-5p	CLIP-seq
MIRT902334	hsa-miR-3144-5p	CLIP-seq
MIRT902335	hsa-miR-3150a-3p	CLIP-seq
MIRT902336	hsa-miR-3158-5p	CLIP-seq
MIRT902337	hsa-miR-3166	CLIP-seq
MIRT902338	hsa-miR-3191	CLIP-seq
MIRT902339	hsa-miR-323-3p	CLIP-seq
MIRT902340	hsa-miR-3609	CLIP-seq
MIRT902341	hsa-miR-3618	CLIP-seq
MIRT902342	hsa-miR-3689a-3p	CLIP-seq
MIRT902343	hsa-miR-3689c	CLIP-seq
MIRT902344	hsa-miR-3691-3p	CLIP-seq
MIRT902345	hsa-miR-3713	CLIP-seq
MIRT902346	hsa-miR-382	CLIP-seq
MIRT902347	hsa-miR-3913-5p	CLIP-seq
MIRT902348	hsa-miR-3918	CLIP-seq
MIRT902349	hsa-miR-3928	CLIP-seq
MIRT902350	hsa-miR-3973	CLIP-seq
MIRT902351	hsa-miR-4267	CLIP-seq
MIRT902352	hsa-miR-4312	CLIP-seq
MIRT902353	hsa-miR-4323	CLIP-seq
MIRT902354	hsa-miR-4418	CLIP-seq
MIRT902355	hsa-miR-4470	CLIP-seq
MIRT902356	hsa-miR-4480	CLIP-seq
MIRT902357	hsa-miR-4636	CLIP-seq
MIRT902358	hsa-miR-4646-3p	CLIP-seq
MIRT902359	hsa-miR-4652-5p	CLIP-seq
MIRT902360	hsa-miR-4659a-5p	CLIP-seq
MIRT902361	hsa-miR-4659b-5p	CLIP-seq
MIRT902362	hsa-miR-4662a-5p	CLIP-seq
MIRT902363	hsa-miR-4690-3p	CLIP-seq
MIRT902364	hsa-miR-4771	CLIP-seq
MIRT902365	hsa-miR-4789-5p	CLIP-seq
MIRT902366	hsa-miR-509-3-5p	CLIP-seq
MIRT902367	hsa-miR-509-5p	CLIP-seq
MIRT902368	hsa-miR-520g	CLIP-seq
MIRT902369	hsa-miR-520h	CLIP-seq
MIRT902370	hsa-miR-532-5p	CLIP-seq
MIRT902371	hsa-miR-548ah	CLIP-seq
MIRT902372	hsa-miR-548p	CLIP-seq
MIRT902373	hsa-miR-552	CLIP-seq
MIRT902374	hsa-miR-556-3p	CLIP-seq
MIRT902375	hsa-miR-934	CLIP-seq
MIRT902324	hsa-miR-145	CLIP-seq
MIRT902326	hsa-miR-187	CLIP-seq
MIRT902327	hsa-miR-2110	CLIP-seq
MIRT902328	hsa-miR-217	CLIP-seq
MIRT1967670	hsa-miR-219-2-3p	CLIP-seq
MIRT902329	hsa-miR-2355-3p	CLIP-seq
MIRT902330	hsa-miR-3074-5p	CLIP-seq
MIRT902331	hsa-miR-3119	CLIP-seq
MIRT902332	hsa-miR-3122	CLIP-seq
MIRT902333	hsa-miR-3127-5p	CLIP-seq
MIRT902334	hsa-miR-3144-5p	CLIP-seq
MIRT902335	hsa-miR-3150a-3p	CLIP-seq
MIRT902336	hsa-miR-3158-5p	CLIP-seq
MIRT902337	hsa-miR-3166	CLIP-seq
MIRT902338	hsa-miR-3191	CLIP-seq
MIRT902339	hsa-miR-323-3p	CLIP-seq
MIRT902340	hsa-miR-3609	CLIP-seq
MIRT902341	hsa-miR-3618	CLIP-seq
MIRT1967671	hsa-miR-3660	CLIP-seq
MIRT902342	hsa-miR-3689a-3p	CLIP-seq
MIRT902343	hsa-miR-3689c	CLIP-seq
MIRT902344	hsa-miR-3691-3p	CLIP-seq
MIRT902345	hsa-miR-3713	CLIP-seq
MIRT902346	hsa-miR-382	CLIP-seq
MIRT1967672	hsa-miR-3913-3p	CLIP-seq
MIRT902347	hsa-miR-3913-5p	CLIP-seq
MIRT902348	hsa-miR-3918	CLIP-seq
MIRT902349	hsa-miR-3928	CLIP-seq
MIRT902350	hsa-miR-3973	CLIP-seq
MIRT1967673	hsa-miR-4256	CLIP-seq
MIRT1967674	hsa-miR-4260	CLIP-seq
MIRT902351	hsa-miR-4267	CLIP-seq
MIRT1967675	hsa-miR-4275	CLIP-seq
MIRT902353	hsa-miR-4323	CLIP-seq
MIRT902354	hsa-miR-4418	CLIP-seq
MIRT1967676	hsa-miR-4421	CLIP-seq
MIRT902355	hsa-miR-4470	CLIP-seq
MIRT902356	hsa-miR-4480	CLIP-seq
MIRT1967677	hsa-miR-4526	CLIP-seq
MIRT902357	hsa-miR-4636	CLIP-seq
MIRT902358	hsa-miR-4646-3p	CLIP-seq
MIRT902359	hsa-miR-4652-5p	CLIP-seq
MIRT902362	hsa-miR-4662a-5p	CLIP-seq
MIRT1967678	hsa-miR-4678	CLIP-seq
MIRT902363	hsa-miR-4690-3p	CLIP-seq
MIRT1967679	hsa-miR-4691-5p	CLIP-seq
MIRT1967680	hsa-miR-4762-3p	CLIP-seq
MIRT902364	hsa-miR-4771	CLIP-seq
MIRT902365	hsa-miR-4789-5p	CLIP-seq
MIRT1967681	hsa-miR-489	CLIP-seq
MIRT902366	hsa-miR-509-3-5p	CLIP-seq
MIRT902367	hsa-miR-509-5p	CLIP-seq
MIRT902368	hsa-miR-520g	CLIP-seq
MIRT902369	hsa-miR-520h	CLIP-seq
MIRT902371	hsa-miR-548ah	CLIP-seq
MIRT902372	hsa-miR-548p	CLIP-seq
MIRT1967682	hsa-miR-548u	CLIP-seq
MIRT902373	hsa-miR-552	CLIP-seq
MIRT902374	hsa-miR-556-3p	CLIP-seq
MIRT902375	hsa-miR-934	CLIP-seq
MIRT2203425	hsa-miR-1224-3p	CLIP-seq
MIRT2203426	hsa-miR-1275	CLIP-seq
MIRT902324	hsa-miR-145	CLIP-seq
MIRT902327	hsa-miR-2110	CLIP-seq
MIRT902329	hsa-miR-2355-3p	CLIP-seq
MIRT902330	hsa-miR-3074-5p	CLIP-seq
MIRT902331	hsa-miR-3119	CLIP-seq
MIRT2203427	hsa-miR-3121-5p	CLIP-seq
MIRT902332	hsa-miR-3122	CLIP-seq
MIRT902334	hsa-miR-3144-5p	CLIP-seq
MIRT902335	hsa-miR-3150a-3p	CLIP-seq
MIRT902336	hsa-miR-3158-5p	CLIP-seq
MIRT902337	hsa-miR-3166	CLIP-seq
MIRT902338	hsa-miR-3191	CLIP-seq
MIRT902339	hsa-miR-323-3p	CLIP-seq
MIRT2203428	hsa-miR-3667-3p	CLIP-seq
MIRT902342	hsa-miR-3689a-3p	CLIP-seq
MIRT902343	hsa-miR-3689c	CLIP-seq
MIRT902344	hsa-miR-3691-3p	CLIP-seq
MIRT902346	hsa-miR-382	CLIP-seq
MIRT902347	hsa-miR-3913-5p	CLIP-seq
MIRT1967674	hsa-miR-4260	CLIP-seq
MIRT902351	hsa-miR-4267	CLIP-seq
MIRT1967675	hsa-miR-4275	CLIP-seq
MIRT2203429	hsa-miR-4279	CLIP-seq
MIRT902354	hsa-miR-4418	CLIP-seq
MIRT1967676	hsa-miR-4421	CLIP-seq
MIRT902356	hsa-miR-4480	CLIP-seq
MIRT902358	hsa-miR-4646-3p	CLIP-seq
MIRT902359	hsa-miR-4652-5p	CLIP-seq
MIRT902362	hsa-miR-4662a-5p	CLIP-seq
MIRT2203430	hsa-miR-4665-5p	CLIP-seq
MIRT1967678	hsa-miR-4678	CLIP-seq
MIRT1967679	hsa-miR-4691-5p	CLIP-seq
MIRT902364	hsa-miR-4771	CLIP-seq
MIRT902365	hsa-miR-4789-5p	CLIP-seq
MIRT2203431	hsa-miR-483-3p	CLIP-seq
MIRT902366	hsa-miR-509-3-5p	CLIP-seq
MIRT902367	hsa-miR-509-5p	CLIP-seq
MIRT902373	hsa-miR-552	CLIP-seq
MIRT902374	hsa-miR-556-3p	CLIP-seq

Show/Hide all (18)

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	25416956, 26871637, 32814053
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0007030	Process	Golgi organization	IMP	27066481
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
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	NAS	11703943, 27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0070085	Process	Glycosylation	IMP	27066481

MIM	HGNC	e!Ensembl
606979	18623	ENSG00000213380

Q96MW5

Protein name

Conserved oligomeric Golgi complex subunit 8 (COG complex subunit 8) (Component of oligomeric Golgi complex 8)

Protein function

Required for normal Golgi function.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04124	Dor1	50 → 388	Dor1-like family	Family

Sequence

MATAATIPSVATATAAALGEVEDEGLLASLFRDRFPEAQWRERPDVGRYLRELSGSGLER
LRREPERLAEERAQLLQQTRDLAFANYKTFIRGAECTERIHRLFGDVEASLGRLLDRLPS
FQQSCRNFVKEAEEISSNRRMNSLTLNRHTEILEILEIPQLMDTCVRNSYYEEALELAAY
VRRLERKYSSIPVIQGIVNEVRQSMQLMLSQLIQQLRTNIQLPACLRVIGYLRRMDVFTE
AELRVKFLQARDAWLRSILTAIPNDDPYFHITKTIEASRVHLFDIITQYRAIFSDEDPLL
PPAMGEHTVNESAIFHGWVLQKVSQFLQVLETDLYRGIGGHLDSLLGQCMYFGLSFSRVG
ADFRGQLAPVFQRVAISTFQKAIQETVEKFQEEMNSYMLISAPAILGTSNMPAAVPATQP
GTLQPPMVLLDFPPLACFLNNILVAFNDLRLCCPVALAQDVTGALEDALAKVTKIILAFH
RAEEAAFSSGEQELFVQFCTVFLEDLVPYLNRCLQVLFPPAQIAQTLGIPPTQLSKYGNL
GHVNIGAIQEPLAFILPKRETLFTLDDQALGPELTAPAPEPPAEEPRLEPAGPACPEGGR
AETQAEPPSVGP

Sequence length

612

Interactions

View interactions

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

163

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COG8-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs771045945, rs2143335414, rs121434387, rs1264383808, rs766244312, rs1597225261, rs1287837570, rs780534334	RCV003485867 RCV001420140 RCV000003832 RCV000003833 RCV000003834 RCV000816521 RCV001200906 RCV001241783
COG8-related disorder	Likely pathogenic; Pathogenic	rs766244312, rs201289118, rs780534334	RCV003407266 RCV003399757 RCV003399001

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs151318611	RCV005900794
Congenital disorder of glycosylation	Uncertain significance; Conflicting classifications of pathogenicity	rs767394291, rs886052252, rs189199610	RCV000301291 RCV000293035 RCV000321381
Malignant lymphoma, large B-cell, diffuse	Benign	rs3759979	RCV005924539

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	26045774
Carcinoma Non Small Cell Lung	Associate	26045774
Carcinoma Renal Cell	Associate	26045774, 34539936
Colorectal Neoplasms	Associate	26045774
Congenital Disorder Of Glycosylation Type In	Associate	37083278
Congenital Disorders of Glycosylation	Associate	37083278
Esophageal Neoplasms	Associate	26045774
Multiple Organ Failure	Associate	19690088
Nervous System Diseases	Associate	19690088
Stomach Neoplasms	Associate	26045774
Xanthomatosis Cerebrotendinous	Associate	37083278

COG8 (component of oligomeric golgi complex 8)