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.	25839
Gene name Gene Name - the full gene name approved by the HGNC.	Component of oligomeric golgi complex 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COG4
Synonyms (NCBI Gene) Gene synonyms aliases	CDG2J, COD1, SWILS
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(13)

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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Disorder Of Glycosylation	COG4-congenital disorder of glycosylation	rs267606740, rs387907202, rs387907203, rs376663459, rs1555575860, rs937887233, rs1048764460, rs2049726544	N/A
Microcephalic osteodysplastic dysplasia	microcephalic osteodysplastic dysplasia, saul-wilson type	rs1555575860	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)