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	57511
Gene name	Component of oligomeric golgi complex 6
Gene symbol	COG6
Synonyms (NCBI Gene)	CDG2LCOD2SHNS
Chromosome	13
Chromosome location	13q14.11
Summary	This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 int

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200177031	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906959	G>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs730882236	A>G	Likely-pathogenic, pathogenic	Intron variant
rs752232501	A>C,G	Pathogenic	Non coding transcript variant, initiator codon variant, missense variant
rs756826030	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs781641023	G>A,T	Pathogenic	Splice acceptor variant
rs794726950	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1292534396	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555277827	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1593402927	A>G	Likely-pathogenic	Splice acceptor variant
rs1593418044	CAAGAGAAGGACCCATTACTGAGGTA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1593418085	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1593421620	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT640429	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT640428	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT640427	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT640426	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640425	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT640424	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT640423	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640421	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640422	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640420	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640419	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT630750	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT630749	hsa-miR-4328	HITS-CLIP	23824327
MIRT630748	hsa-miR-18b-3p	HITS-CLIP	23824327
MIRT630747	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT630746	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT630745	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT630744	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT630743	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT630742	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT630741	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT630740	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT640429	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT640428	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT640427	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT640426	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640425	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT640424	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT640423	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640421	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640422	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640420	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640419	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT630750	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT630749	hsa-miR-4328	HITS-CLIP	23824327
MIRT630748	hsa-miR-18b-3p	HITS-CLIP	23824327
MIRT630747	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT630746	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT630745	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT630744	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT630743	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT630742	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT630741	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT630740	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT902273	hsa-miR-1273f	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902275	hsa-miR-185	CLIP-seq
MIRT902276	hsa-miR-2054	CLIP-seq
MIRT902277	hsa-miR-218	CLIP-seq
MIRT902278	hsa-miR-2467-3p	CLIP-seq
MIRT902279	hsa-miR-2909	CLIP-seq
MIRT902280	hsa-miR-297	CLIP-seq
MIRT902281	hsa-miR-3120-3p	CLIP-seq
MIRT902282	hsa-miR-3135b	CLIP-seq
MIRT902283	hsa-miR-3149	CLIP-seq
MIRT902284	hsa-miR-3158-5p	CLIP-seq
MIRT902285	hsa-miR-3162-5p	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT902288	hsa-miR-3678-3p	CLIP-seq
MIRT902289	hsa-miR-3942-5p	CLIP-seq
MIRT902290	hsa-miR-3977	CLIP-seq
MIRT902291	hsa-miR-425	CLIP-seq
MIRT902292	hsa-miR-4306	CLIP-seq
MIRT902293	hsa-miR-4418	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT902295	hsa-miR-4436b-3p	CLIP-seq
MIRT902296	hsa-miR-4477b	CLIP-seq
MIRT902297	hsa-miR-4487	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902299	hsa-miR-4644	CLIP-seq
MIRT902300	hsa-miR-4661-5p	CLIP-seq
MIRT902301	hsa-miR-4672	CLIP-seq
MIRT902302	hsa-miR-4703-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT902304	hsa-miR-4735-5p	CLIP-seq
MIRT902305	hsa-miR-502-5p	CLIP-seq
MIRT902306	hsa-miR-509-3-5p	CLIP-seq
MIRT902307	hsa-miR-509-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT902309	hsa-miR-579	CLIP-seq
MIRT902310	hsa-miR-636	CLIP-seq
MIRT902311	hsa-miR-660	CLIP-seq
MIRT902281	hsa-miR-3120-3p	CLIP-seq
MIRT1967663	hsa-miR-3128	CLIP-seq
MIRT1967664	hsa-miR-34a	CLIP-seq
MIRT1967665	hsa-miR-34c-5p	CLIP-seq
MIRT902289	hsa-miR-3942-5p	CLIP-seq
MIRT1967666	hsa-miR-449a	CLIP-seq
MIRT1967667	hsa-miR-449b	CLIP-seq
MIRT902300	hsa-miR-4661-5p	CLIP-seq
MIRT902301	hsa-miR-4672	CLIP-seq
MIRT902302	hsa-miR-4703-5p	CLIP-seq
MIRT1967668	hsa-miR-4720-5p	CLIP-seq
MIRT1967669	hsa-miR-4799-3p	CLIP-seq
MIRT2447422	hsa-miR-300	CLIP-seq
MIRT2447423	hsa-miR-381	CLIP-seq
MIRT2447424	hsa-miR-4503	CLIP-seq
MIRT2447425	hsa-miR-4666-3p	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT2506380	hsa-miR-3613-3p	CLIP-seq
MIRT2506381	hsa-miR-362-5p	CLIP-seq
MIRT2506382	hsa-miR-3646	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT2506383	hsa-miR-4477a	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT2506384	hsa-miR-4786-5p	CLIP-seq
MIRT2506385	hsa-miR-500b	CLIP-seq
MIRT2506386	hsa-miR-501-5p	CLIP-seq
MIRT2506387	hsa-miR-513a-3p	CLIP-seq
MIRT2506388	hsa-miR-520d-5p	CLIP-seq
MIRT2506389	hsa-miR-524-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT2506390	hsa-miR-548a-3p	CLIP-seq
MIRT2506391	hsa-miR-548e	CLIP-seq
MIRT2506392	hsa-miR-548f	CLIP-seq
MIRT2506393	hsa-miR-548g	CLIP-seq
MIRT2506394	hsa-miR-769-5p	CLIP-seq
MIRT2506395	hsa-miR-944	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT2506380	hsa-miR-3613-3p	CLIP-seq
MIRT2506382	hsa-miR-3646	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT2506384	hsa-miR-4786-5p	CLIP-seq
MIRT2506388	hsa-miR-520d-5p	CLIP-seq
MIRT2506389	hsa-miR-524-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT2506390	hsa-miR-548a-3p	CLIP-seq
MIRT2506391	hsa-miR-548e	CLIP-seq
MIRT2506392	hsa-miR-548f	CLIP-seq
MIRT2506393	hsa-miR-548g	CLIP-seq
MIRT2506394	hsa-miR-769-5p	CLIP-seq

Show/Hide all (17)

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	27107012, 28514442, 32296183, 33961781, 36217029
GO:0005794	Component	Golgi apparatus	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IEA
GO:0007030	Process	Golgi organization	IMP	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	NAS	27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0070085	Process	Glycosylation	IMP	20605848, 27066481

MIM	HGNC	e!Ensembl
606977	18621	ENSG00000133103

Q9Y2V7

Protein name

Conserved oligomeric Golgi complex subunit 6 (COG complex subunit 6) (Component of oligomeric Golgi complex 6)

Protein function

Required for normal Golgi function.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06419	COG6	56 → 656	Conserved oligomeric complex COG6	Family

Sequence

MAEGSGEVVAVSATGAANGLNNGAGGTSATTCNPLSRKLHKILETRLDNDKEMLEALKAL
STFFVENSLRTRRNLRGDIERKSLAINEEFVSIFKEVKEELESISEDVQAMSNCCQDMTS
RLQAAKEQTQDLIVKTTKLQSESQKLEIRAQVADAFLSKFQLTSDEMSLLRGTREGPITE
DFFKALGRVKQIHNDVKVLLRTNQQTAGLEIMEQMALLQETAYERLYRWAQSECRTLTQE
SCDVSPVLTQAMEALQDRPVLYKYTLDEFGTARRSTVVRGFIDALTRGGPGGTPRPIEMH
SHDPLRYVGDMLAWLHQATASEKEHLEALLKHVTTQGVEENIQEVVGHITEGVCRPLKVR
IEQVIVAEPGAVLLYKISNLLKFYHHTISGIVGNSATALLTTIEEMHLLSKKIFFNSLSL
HASKLMDKVELPPPDLGPSSALNQTLMLLREVLASHDSSVVPLDARQADFVQVLSCVLDP
LLQMCTVSASNLGTADMATFMVNSLYMMKTTLALFEFTDRRLEMLQFQIEAHLDTLINEQ
ASYVLTRVGLSYIYNTVQQHKPEQGSLANMPNLDSVTLKAAMVQFDRYLSAPDNLLIPQL
NFLLSATVKEQIVKQSTELVCRAYGEVYAAVMNPINEYKDPENILHRSPQQVQTLLS

Sequence length

657

Interactions

View interactions

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

427

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COG6-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs781236436, rs2137942150, rs200812708, rs730882236, rs75701196, rs1345713239, rs2500684110, rs1190636194, rs2500752563, rs1879202581, rs387906959, rs1292534396, rs1259563970, rs200177031, rs756826030 View all (4 more)	RCV005232642 RCV001939452 RCV002049998 RCV001251035 RCV005215939 RCV003777577 RCV003333714 RCV003333715 RCV003777335 RCV003990679 RCV000023603 RCV000763333 RCV000677237 RCV000584833 RCV000584832 RCV000584830 RCV000989102 RCV001007811 RCV001030050
COG6-related disorder	Likely pathogenic; Pathogenic	rs730882236, rs1453865021, rs1357662240	RCV000985030 RCV004529229 RCV004528747
Hypohidrosis	Likely pathogenic; Pathogenic	rs730882236	RCV000162165
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Pathogenic; Likely pathogenic	rs2137942150, rs200812708, rs730882236, rs75701196, rs1345713239, rs1292534396, rs200177031	RCV001939452 RCV002049998 RCV000050228 RCV005215939 RCV003777577 RCV000763333 RCV001853951
Intellectual disability	Likely pathogenic; Pathogenic	rs730882236	RCV000162165
See cases	Likely pathogenic	rs2137941877	RCV002252369

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs17445347, rs45525134, rs76811478, rs34566895	RCV005918399 RCV005924759 RCV005921981 RCV005907121
Cervical cancer	Benign	rs17445347, rs45525134, rs76811478	RCV005918401 RCV005924760 RCV005921983
Cholangiocarcinoma	Benign	rs12875655	RCV005924904
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs34566895	RCV005907122
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs375878630	RCV005905852
Congenital disorder of glycosylation	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs66629036, rs67765306, rs397756552, rs886050235, rs554269460, rs142947196, rs144577794, rs772109615, rs548475910, rs746938820, rs1491507046, rs886050232	RCV000281219 RCV000311680 RCV000398716 RCV000263059 RCV000390229 RCV000358010 RCV000259665 RCV000330014 RCV000355516 RCV000370953 RCV000316412 RCV000310242
Familial cancer of breast	Conflicting classifications of pathogenicity	rs34566895	RCV005907120
Gastric cancer	Benign	rs76811478	RCV005921984
Hepatocellular carcinoma	Benign	rs9548886, rs12875655	RCV005915370 RCV005924903
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs76811478, rs34566895	RCV005921986 RCV005907124
Malignant lymphoma, large B-cell, diffuse	Benign	rs9548886	RCV005915371
Malignant tumor of esophagus	Benign; Likely benign	rs17445347, rs76811478, rs139371264	RCV005918400 RCV005921982 RCV005924150
Malignant tumor of urinary bladder	Benign; Likely benign	rs78336861	RCV005887629
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs17445347, rs45525134, rs34566895	RCV005918403 RCV005924761 RCV005907123
Sarcoma	Benign	rs17445347	RCV005918402
Thymoma	Benign	rs45525134, rs76811478	RCV005924762 RCV005921985
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs78336861, rs76811478, rs34566895	RCV005887630 RCV005921987 RCV005907125

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Juvenile	Associate	20722033
Arthritis Rheumatoid	Associate	18369459, 20722033, 24532676
Autoimmune Diseases	Associate	18369459, 20722033
Carcinoma Renal Cell	Associate	34539936
Celiac Disease	Associate	18369459
Congenital Disorder Of Glycosylation Type In	Associate	40225945
Coronary Artery Disease	Associate	25197382
Crohn Disease	Associate	20722033
Dental Enamel Hypoplasia	Associate	40225945
Diabetes Mellitus Type 1	Associate	18369459, 20722033
Glycogen Storage Disease XIV	Associate	40225945
Graves Disease	Associate	18369459
Multiple Sclerosis	Associate	20722033
Psoriasis	Associate	18369459, 26993500
Pulmonary Arterial Hypertension	Associate	38184627

COG6 (component of oligomeric golgi complex 6)