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	25839
Gene name	Component of oligomeric golgi complex 4
Gene symbol	COG4
Synonyms (NCBI Gene)	CDG2JCOD1SWILS
Chromosome	16
Chromosome location	16q22.1
Summary	The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants e

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SNP ID	Visualize variation	Clinical significance	Consequence
rs267606740	G>A	Pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs372362031	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs376663459	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs376885733	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs387907202	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs387907203	A>C,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs533161794	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant, downstream transcript variant
rs1048764460	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064793795	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1333878137	AG>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1555497029	A>T	Pathogenic	Splice donor variant
rs1555573157	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555575860	C>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant

189

Show/Hide all (189)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040817	hsa-miR-18a-3p	CLASH	23622248
MIRT039829	hsa-miR-615-3p	CLASH	23622248
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT738265	hsa-miR-1285	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT738266	hsa-miR-3187-5p	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT738268	hsa-miR-4486	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT738267	hsa-miR-612	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT902180	hsa-miR-3973	CLIP-seq
MIRT902181	hsa-miR-4279	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902183	hsa-miR-520g	CLIP-seq
MIRT902184	hsa-miR-520h	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT738265	hsa-miR-1285	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT738266	hsa-miR-3187-5p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT738268	hsa-miR-4486	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT738267	hsa-miR-612	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT1967656	hsa-miR-382	CLIP-seq
MIRT2203390	hsa-miR-1207-5p	CLIP-seq
MIRT2203391	hsa-miR-142-3p	CLIP-seq
MIRT2203392	hsa-miR-1909	CLIP-seq
MIRT2203393	hsa-miR-4255	CLIP-seq
MIRT2203394	hsa-miR-4453	CLIP-seq
MIRT2203395	hsa-miR-4538	CLIP-seq
MIRT2203396	hsa-miR-4718	CLIP-seq
MIRT2203397	hsa-miR-4736	CLIP-seq
MIRT2203398	hsa-miR-4763-3p	CLIP-seq
MIRT902180	hsa-miR-3973	CLIP-seq
MIRT902181	hsa-miR-4279	CLIP-seq
MIRT902183	hsa-miR-520g	CLIP-seq
MIRT902184	hsa-miR-520h	CLIP-seq
MIRT2203390	hsa-miR-1207-5p	CLIP-seq
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT2506317	hsa-miR-1304	CLIP-seq
MIRT2203391	hsa-miR-142-3p	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT2203392	hsa-miR-1909	CLIP-seq
MIRT2506318	hsa-miR-1913	CLIP-seq
MIRT2506319	hsa-miR-198	CLIP-seq
MIRT2506320	hsa-miR-28-5p	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT2506321	hsa-miR-31	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT2506322	hsa-miR-3139	CLIP-seq
MIRT2506323	hsa-miR-3150a-3p	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT2506324	hsa-miR-3175	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT2506325	hsa-miR-324-3p	CLIP-seq
MIRT2506326	hsa-miR-361-3p	CLIP-seq
MIRT2506327	hsa-miR-3615	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT2506328	hsa-miR-3622a-3p	CLIP-seq
MIRT2506329	hsa-miR-3622b-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT2203393	hsa-miR-4255	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT2506330	hsa-miR-4313	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT2203394	hsa-miR-4453	CLIP-seq
MIRT2506331	hsa-miR-4481	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT2203395	hsa-miR-4538	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT2506332	hsa-miR-4708-5p	CLIP-seq
MIRT2203396	hsa-miR-4718	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT2203397	hsa-miR-4736	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT2506333	hsa-miR-4745-5p	CLIP-seq
MIRT2203398	hsa-miR-4763-3p	CLIP-seq
MIRT2506334	hsa-miR-4763-5p	CLIP-seq
MIRT2506335	hsa-miR-4768-5p	CLIP-seq
MIRT2506336	hsa-miR-491-5p	CLIP-seq
MIRT2506337	hsa-miR-499a-5p	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT2506338	hsa-miR-639	CLIP-seq
MIRT2506339	hsa-miR-661	CLIP-seq
MIRT2506340	hsa-miR-708	CLIP-seq
MIRT2506341	hsa-miR-720	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT2506342	hsa-miR-939	CLIP-seq
MIRT2506343	hsa-miR-942	CLIP-seq
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT2506318	hsa-miR-1913	CLIP-seq
MIRT2506320	hsa-miR-28-5p	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT2506322	hsa-miR-3139	CLIP-seq
MIRT2506323	hsa-miR-3150a-3p	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT2506324	hsa-miR-3175	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT2506325	hsa-miR-324-3p	CLIP-seq
MIRT2506326	hsa-miR-361-3p	CLIP-seq
MIRT2506327	hsa-miR-3615	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT2506328	hsa-miR-3622a-3p	CLIP-seq
MIRT2506329	hsa-miR-3622b-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT2506330	hsa-miR-4313	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT2506332	hsa-miR-4708-5p	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT2506334	hsa-miR-4763-5p	CLIP-seq
MIRT2506335	hsa-miR-4768-5p	CLIP-seq
MIRT2506336	hsa-miR-491-5p	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT2506338	hsa-miR-639	CLIP-seq
MIRT2506339	hsa-miR-661	CLIP-seq
MIRT2506340	hsa-miR-708	CLIP-seq
MIRT2506341	hsa-miR-720	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT2506342	hsa-miR-939	CLIP-seq
MIRT2506343	hsa-miR-942	CLIP-seq

Show/Hide all (20)

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, 19536132, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	19536132
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IMP	19536132, 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	NAS	27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042802	Function	Identical protein binding	IPI	19651599
GO:0070085	Process	Glycosylation	IMP	27066481

MIM	HGNC	e!Ensembl
606976	18620	ENSG00000103051

Q9H9E3

Protein name

Conserved oligomeric Golgi complex subunit 4 (COG complex subunit 4) (Component of oligomeric Golgi complex 4)

Protein function

Required for normal Golgi function (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132). {ECO:0000269|PubMed:19536132, ECO:0000269|PubMed:302

PDB

3HR0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08318	COG4	188 → 497	COG4 transport protein	Domain

Sequence

MADLDSPPKLSGVQQPSEGVGGGRCSEISAELIRSLTELQELEAVYERLCGEEKVVEREL
DALLEQQNTIESKMVTLHRMGPNLQLIEGDAKQLAGMITFTCNLAENVSSKVRQLDLAKN
RLYQAIQRADDILDLKFCMDGVQTALRSEDYEQAAAHTHRYLCLDKSVIELSRQGKEGSM
IDANLKLLQEAEQRLKAIVAEKFAIATKEGDLPQVERFFKIFPLLGLHEEGLRKFSEYLC
KQVASKAEENLLMVLGTDMSDRRAAVIFADTLTLLFEGIARIVETHQPIVETYYGPGRLY
TLIKYLQVECDRQVEKVVDKFIKQRDYHQQFRHVQNNLMRNSTTEKIEPRELDPILTEVT
LMNARSELYLRFLKKRISSDFEVGDSMASEEVKQEHQKCLDKLLNNCLLSCTMQELIGLY
VTMEEYFMRETVNKAVALDTYEKGQLTSSMVDDVFYIVKKCIGRALSSSSIDCLCAMINL
ATTELESDFRDVLCNKLRMGFPATTFQDIQRGVTSAVNIMHSSLQQGKFDTKGIESTDEA
KMSFLVTLNNVEVCSENISTLKKTLESDCTKLFSQGIGGEQAQAKFDSCLSDLAAVSNKF
RDLLQEGLTELNSTAIKPQVQPWINSFFSVSHNIEEEEFNDYEANDPWVQQFILNLEQQM
AEFKASLSPVIYDSLTGLMTSLVAVELEKVVLKSTFNRLGGLQFDKELRSLIAYLTTVTT
WTIRDKFARLSQMATILNLERVTEILDYWGPNSGPLTWRLTPAEVRQVLALRIDFRSEDI
KRLRL

Sequence length

785

Interactions

View interactions

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

228

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COG4-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs2151749755, rs2151758141, rs2151758219, rs540632609, rs267606740, rs376663459, rs926950737, rs387907202, rs387907203, rs1555575860, rs937887233, rs1048764460, rs2049726544, rs1249789100, rs1311924956	RCV001647345 RCV001647344 RCV001962877 RCV002021735 RCV000003837 RCV000190572 RCV003609928 RCV000024608 RCV000024609 RCV000625979 RCV000692575 RCV002499389 RCV001069760 RCV001169885 RCV001247888
COG4-related disorder	Likely pathogenic; Pathogenic	rs1333878137	RCV005223078
Delayed gross motor development	Pathogenic	rs1048764460	RCV000782124
Hepatocellular carcinoma	Likely pathogenic	rs540632609	RCV005925664
Microcephalic osteodysplastic dysplasia, Saul-Wilson type	Likely pathogenic; Pathogenic	rs1474477573, rs539535604, rs1555575860, rs1048764460, rs1249789100	RCV003990382 RCV003990396 RCV000710020 RCV000710021 RCV002499389 RCV004820869
See cases	Likely pathogenic; Pathogenic	rs267606740	RCV002251866

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs16970243, rs74324138	RCV005894534 RCV005896309
Cervical cancer	Likely benign	rs369063742	RCV005894539
Cholangiocarcinoma	Benign	rs74324138	RCV005896314
Colon adenocarcinoma	Benign	rs150547677	RCV005894531
Familial cancer of breast	Uncertain significance	rs398124291	RCV005886588
Gastric cancer	Benign	rs16970243	RCV005894536
Malignant lymphoma, large B-cell, diffuse	Benign	rs74324138	RCV005896311
Malignant tumor of esophagus	Benign	rs150547677, rs16970243	RCV005894532 RCV005894535
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs369063742, rs150547677, rs16970243	RCV005894540 RCV005894533 RCV005894537
Thymoma	Benign	rs16970243, rs74324138	RCV005894538 RCV005896313
Uterine carcinosarcoma	Benign	rs74324138	RCV005896312
Uterine corpus endometrial carcinoma	Likely benign	rs766724739	RCV005898054
Uveal melanoma	Benign	rs74324138	RCV005896310

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Renal Cell	Stimulate	34539936
Congenital Disorder Of Glycosylation Type I IIX	Associate	21185756
Congenital disorder of glycosylation type II	Associate	19494034
Congenital Disorders of Glycosylation	Associate	21185756
Diabetic Nephropathies	Associate	25359423
Epiphyseal dysplasia multiple 1	Associate	21185756
Hepatolenticular Degeneration	Associate	32652690
Multiple Organ Failure	Associate	19690088
Nervous System Diseases	Associate	19690088

COG4 (component of oligomeric golgi complex 4)