Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	83548
Gene name	Component of oligomeric golgi complex 3
Gene symbol	COG3
Synonyms (NCBI Gene)	CDG2BBSEC34
Chromosome	13
Chromosome location	13q14.13
Summary	This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein

314 Show/Hide all (314)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017229	hsa-miR-335-5p	Microarray	18185580
MIRT068738	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT068743	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT068737	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT902105	hsa-miR-1245b-3p	CLIP-seq
MIRT902106	hsa-miR-1305	CLIP-seq
MIRT902107	hsa-miR-137	CLIP-seq
MIRT902108	hsa-miR-18a	CLIP-seq
MIRT902109	hsa-miR-18b	CLIP-seq
MIRT902110	hsa-miR-2054	CLIP-seq
MIRT902111	hsa-miR-25	CLIP-seq
MIRT902112	hsa-miR-3065-3p	CLIP-seq
MIRT902113	hsa-miR-3133	CLIP-seq
MIRT902114	hsa-miR-32	CLIP-seq
MIRT902115	hsa-miR-363	CLIP-seq
MIRT902116	hsa-miR-3661	CLIP-seq
MIRT902117	hsa-miR-367	CLIP-seq
MIRT902118	hsa-miR-3691-5p	CLIP-seq
MIRT902119	hsa-miR-3942-3p	CLIP-seq
MIRT902120	hsa-miR-3978	CLIP-seq
MIRT902121	hsa-miR-4255	CLIP-seq
MIRT902122	hsa-miR-4259	CLIP-seq
MIRT902123	hsa-miR-4290	CLIP-seq
MIRT902124	hsa-miR-4325	CLIP-seq
MIRT902125	hsa-miR-4438	CLIP-seq
MIRT902126	hsa-miR-4464	CLIP-seq
MIRT902127	hsa-miR-4491	CLIP-seq
MIRT902128	hsa-miR-4511	CLIP-seq
MIRT902129	hsa-miR-4657	CLIP-seq
MIRT902130	hsa-miR-4729	CLIP-seq
MIRT902131	hsa-miR-4735-3p	CLIP-seq
MIRT902132	hsa-miR-4748	CLIP-seq
MIRT902133	hsa-miR-4752	CLIP-seq
MIRT902134	hsa-miR-4766-3p	CLIP-seq
MIRT902135	hsa-miR-4793-5p	CLIP-seq
MIRT902136	hsa-miR-495	CLIP-seq
MIRT902137	hsa-miR-507	CLIP-seq
MIRT902138	hsa-miR-5095	CLIP-seq
MIRT902139	hsa-miR-510	CLIP-seq
MIRT902140	hsa-miR-512-5p	CLIP-seq
MIRT902141	hsa-miR-520d-5p	CLIP-seq
MIRT902142	hsa-miR-524-5p	CLIP-seq
MIRT902143	hsa-miR-548aa	CLIP-seq
MIRT902144	hsa-miR-548b-3p	CLIP-seq
MIRT902145	hsa-miR-548p	CLIP-seq
MIRT902146	hsa-miR-549	CLIP-seq
MIRT902147	hsa-miR-550b	CLIP-seq
MIRT902148	hsa-miR-556-3p	CLIP-seq
MIRT902149	hsa-miR-557	CLIP-seq
MIRT902150	hsa-miR-561	CLIP-seq
MIRT902151	hsa-miR-576-3p	CLIP-seq
MIRT902152	hsa-miR-600	CLIP-seq
MIRT902153	hsa-miR-607	CLIP-seq
MIRT902154	hsa-miR-631	CLIP-seq
MIRT902155	hsa-miR-9	CLIP-seq
MIRT902156	hsa-miR-92a	CLIP-seq
MIRT902157	hsa-miR-92b	CLIP-seq
MIRT1967635	hsa-miR-1260	CLIP-seq
MIRT1967636	hsa-miR-1260b	CLIP-seq
MIRT1967637	hsa-miR-1273g	CLIP-seq
MIRT1967638	hsa-miR-138	CLIP-seq
MIRT1967639	hsa-miR-188-3p	CLIP-seq
MIRT902108	hsa-miR-18a	CLIP-seq
MIRT902109	hsa-miR-18b	CLIP-seq
MIRT1967640	hsa-miR-2117	CLIP-seq
MIRT902112	hsa-miR-3065-3p	CLIP-seq
MIRT1967641	hsa-miR-3156-3p	CLIP-seq
MIRT1967642	hsa-miR-3191	CLIP-seq
MIRT1967643	hsa-miR-3659	CLIP-seq
MIRT1967644	hsa-miR-3662	CLIP-seq
MIRT902119	hsa-miR-3942-3p	CLIP-seq
MIRT902120	hsa-miR-3978	CLIP-seq
MIRT902121	hsa-miR-4255	CLIP-seq
MIRT1967645	hsa-miR-4273	CLIP-seq
MIRT902124	hsa-miR-4325	CLIP-seq
MIRT1967646	hsa-miR-4330	CLIP-seq
MIRT1967647	hsa-miR-4420	CLIP-seq
MIRT902126	hsa-miR-4464	CLIP-seq
MIRT1967648	hsa-miR-4490	CLIP-seq
MIRT1967649	hsa-miR-4658	CLIP-seq
MIRT902131	hsa-miR-4735-3p	CLIP-seq
MIRT902132	hsa-miR-4748	CLIP-seq
MIRT1967650	hsa-miR-4758-5p	CLIP-seq
MIRT1967651	hsa-miR-4778-5p	CLIP-seq
MIRT902135	hsa-miR-4793-5p	CLIP-seq
MIRT902137	hsa-miR-507	CLIP-seq
MIRT902139	hsa-miR-510	CLIP-seq
MIRT902140	hsa-miR-512-5p	CLIP-seq
MIRT1967652	hsa-miR-542-5p	CLIP-seq
MIRT1967653	hsa-miR-548g	CLIP-seq
MIRT902146	hsa-miR-549	CLIP-seq
MIRT902148	hsa-miR-556-3p	CLIP-seq
MIRT902149	hsa-miR-557	CLIP-seq
MIRT902150	hsa-miR-561	CLIP-seq
MIRT1967654	hsa-miR-574-5p	CLIP-seq
MIRT1967655	hsa-miR-630	CLIP-seq
MIRT902155	hsa-miR-9	CLIP-seq
MIRT2203345	hsa-miR-1207-3p	CLIP-seq
MIRT2203346	hsa-miR-1238	CLIP-seq
MIRT1967635	hsa-miR-1260	CLIP-seq
MIRT1967636	hsa-miR-1260b	CLIP-seq
MIRT1967637	hsa-miR-1273g	CLIP-seq
MIRT2203347	hsa-miR-1324	CLIP-seq
MIRT902107	hsa-miR-137	CLIP-seq
MIRT2203348	hsa-miR-15a	CLIP-seq
MIRT2203349	hsa-miR-15b	CLIP-seq
MIRT2203350	hsa-miR-16	CLIP-seq
MIRT1967639	hsa-miR-188-3p	CLIP-seq
MIRT902108	hsa-miR-18a	CLIP-seq
MIRT902109	hsa-miR-18b	CLIP-seq
MIRT2203351	hsa-miR-1915	CLIP-seq
MIRT2203352	hsa-miR-195	CLIP-seq
MIRT2203353	hsa-miR-217	CLIP-seq
MIRT2203354	hsa-miR-2276	CLIP-seq
MIRT902111	hsa-miR-25	CLIP-seq
MIRT2203355	hsa-miR-2682	CLIP-seq
MIRT902112	hsa-miR-3065-3p	CLIP-seq
MIRT2203356	hsa-miR-3130-3p	CLIP-seq
MIRT902113	hsa-miR-3133	CLIP-seq
MIRT2203357	hsa-miR-3143	CLIP-seq
MIRT1967641	hsa-miR-3156-3p	CLIP-seq
MIRT2203358	hsa-miR-3158-5p	CLIP-seq
MIRT2203359	hsa-miR-3166	CLIP-seq
MIRT2203360	hsa-miR-3177-5p	CLIP-seq
MIRT1967642	hsa-miR-3191	CLIP-seq
MIRT902114	hsa-miR-32	CLIP-seq
MIRT2203361	hsa-miR-331-3p	CLIP-seq
MIRT2203362	hsa-miR-34a	CLIP-seq
MIRT2203363	hsa-miR-34c-5p	CLIP-seq
MIRT2203364	hsa-miR-3607-3p	CLIP-seq
MIRT902115	hsa-miR-363	CLIP-seq
MIRT1967643	hsa-miR-3659	CLIP-seq
MIRT902117	hsa-miR-367	CLIP-seq
MIRT2203365	hsa-miR-3686	CLIP-seq
MIRT2203366	hsa-miR-3714	CLIP-seq
MIRT902119	hsa-miR-3942-3p	CLIP-seq
MIRT2203367	hsa-miR-424	CLIP-seq
MIRT2203368	hsa-miR-4268	CLIP-seq
MIRT1967647	hsa-miR-4420	CLIP-seq
MIRT902125	hsa-miR-4438	CLIP-seq
MIRT2203369	hsa-miR-4448	CLIP-seq
MIRT2203370	hsa-miR-4468	CLIP-seq
MIRT2203371	hsa-miR-4476	CLIP-seq
MIRT2203372	hsa-miR-4494	CLIP-seq
MIRT2203373	hsa-miR-449a	CLIP-seq
MIRT2203374	hsa-miR-449b	CLIP-seq
MIRT2203375	hsa-miR-449c	CLIP-seq
MIRT902128	hsa-miR-4511	CLIP-seq
MIRT1967649	hsa-miR-4658	CLIP-seq
MIRT2203376	hsa-miR-4696	CLIP-seq
MIRT2203377	hsa-miR-4726-3p	CLIP-seq
MIRT902131	hsa-miR-4735-3p	CLIP-seq
MIRT2203378	hsa-miR-4735-5p	CLIP-seq
MIRT1967650	hsa-miR-4758-5p	CLIP-seq
MIRT902134	hsa-miR-4766-3p	CLIP-seq
MIRT2203379	hsa-miR-4768-3p	CLIP-seq
MIRT2203380	hsa-miR-4771	CLIP-seq
MIRT2203381	hsa-miR-4790-5p	CLIP-seq
MIRT902136	hsa-miR-495	CLIP-seq
MIRT2203382	hsa-miR-497	CLIP-seq
MIRT902138	hsa-miR-5095	CLIP-seq
MIRT902139	hsa-miR-510	CLIP-seq
MIRT902140	hsa-miR-512-5p	CLIP-seq
MIRT1967652	hsa-miR-542-5p	CLIP-seq
MIRT902143	hsa-miR-548aa	CLIP-seq
MIRT2203383	hsa-miR-548an	CLIP-seq
MIRT902144	hsa-miR-548b-3p	CLIP-seq
MIRT902145	hsa-miR-548p	CLIP-seq
MIRT1967654	hsa-miR-574-5p	CLIP-seq
MIRT2203384	hsa-miR-576-5p	CLIP-seq
MIRT2203385	hsa-miR-596	CLIP-seq
MIRT2203386	hsa-miR-603	CLIP-seq
MIRT2203387	hsa-miR-617	CLIP-seq
MIRT2203388	hsa-miR-654-3p	CLIP-seq
MIRT2203389	hsa-miR-767-5p	CLIP-seq
MIRT902156	hsa-miR-92a	CLIP-seq
MIRT902157	hsa-miR-92b	CLIP-seq
MIRT2203351	hsa-miR-1915	CLIP-seq
MIRT1967640	hsa-miR-2117	CLIP-seq
MIRT2203366	hsa-miR-3714	CLIP-seq
MIRT1967645	hsa-miR-4273	CLIP-seq
MIRT1967646	hsa-miR-4330	CLIP-seq
MIRT2203371	hsa-miR-4476	CLIP-seq
MIRT2203377	hsa-miR-4726-3p	CLIP-seq
MIRT2203387	hsa-miR-617	CLIP-seq
MIRT2447421	hsa-miR-4688	CLIP-seq
MIRT2506273	hsa-miR-1	CLIP-seq
MIRT2506274	hsa-miR-1208	CLIP-seq
MIRT2506275	hsa-miR-140-5p	CLIP-seq
MIRT2203351	hsa-miR-1915	CLIP-seq
MIRT2506276	hsa-miR-206	CLIP-seq
MIRT1967640	hsa-miR-2117	CLIP-seq
MIRT2506277	hsa-miR-298	CLIP-seq
MIRT2506278	hsa-miR-302a	CLIP-seq
MIRT2506279	hsa-miR-302b	CLIP-seq
MIRT2506280	hsa-miR-302c	CLIP-seq
MIRT2506281	hsa-miR-302d	CLIP-seq
MIRT2506282	hsa-miR-302e	CLIP-seq
MIRT2203356	hsa-miR-3130-3p	CLIP-seq
MIRT2203357	hsa-miR-3143	CLIP-seq
MIRT2506283	hsa-miR-3145-5p	CLIP-seq
MIRT2203358	hsa-miR-3158-5p	CLIP-seq
MIRT2506284	hsa-miR-3180-5p	CLIP-seq
MIRT2506285	hsa-miR-3190	CLIP-seq
MIRT2506286	hsa-miR-323-3p	CLIP-seq
MIRT2203361	hsa-miR-331-3p	CLIP-seq
MIRT2506287	hsa-miR-3613-3p	CLIP-seq
MIRT2506288	hsa-miR-3620	CLIP-seq
MIRT1967644	hsa-miR-3662	CLIP-seq
MIRT2506289	hsa-miR-3673	CLIP-seq
MIRT2203366	hsa-miR-3714	CLIP-seq
MIRT2506290	hsa-miR-372	CLIP-seq
MIRT2506291	hsa-miR-373	CLIP-seq
MIRT902121	hsa-miR-4255	CLIP-seq
MIRT2506292	hsa-miR-4269	CLIP-seq
MIRT1967645	hsa-miR-4273	CLIP-seq
MIRT2506293	hsa-miR-4281	CLIP-seq
MIRT2506294	hsa-miR-4305	CLIP-seq
MIRT2506295	hsa-miR-4318	CLIP-seq
MIRT1967646	hsa-miR-4330	CLIP-seq
MIRT1967647	hsa-miR-4420	CLIP-seq
MIRT2506296	hsa-miR-4424	CLIP-seq
MIRT902125	hsa-miR-4438	CLIP-seq
MIRT2203371	hsa-miR-4476	CLIP-seq
MIRT2203377	hsa-miR-4726-3p	CLIP-seq
MIRT2506297	hsa-miR-4732-3p	CLIP-seq
MIRT902134	hsa-miR-4766-3p	CLIP-seq
MIRT2203379	hsa-miR-4768-3p	CLIP-seq
MIRT2506298	hsa-miR-4797-3p	CLIP-seq
MIRT2506299	hsa-miR-494	CLIP-seq
MIRT2506300	hsa-miR-501-3p	CLIP-seq
MIRT2506301	hsa-miR-502-3p	CLIP-seq
MIRT2506302	hsa-miR-508-5p	CLIP-seq
MIRT902138	hsa-miR-5095	CLIP-seq
MIRT2506303	hsa-miR-512-3p	CLIP-seq
MIRT2506304	hsa-miR-520a-3p	CLIP-seq
MIRT2506305	hsa-miR-520a-5p	CLIP-seq
MIRT2506306	hsa-miR-520b	CLIP-seq
MIRT2506307	hsa-miR-520c-3p	CLIP-seq
MIRT2506308	hsa-miR-520d-3p	CLIP-seq
MIRT2506309	hsa-miR-520e	CLIP-seq
MIRT2506310	hsa-miR-525-5p	CLIP-seq
MIRT2506311	hsa-miR-543	CLIP-seq
MIRT902143	hsa-miR-548aa	CLIP-seq
MIRT2506312	hsa-miR-548n	CLIP-seq
MIRT902145	hsa-miR-548p	CLIP-seq
MIRT2506313	hsa-miR-548t	CLIP-seq
MIRT902146	hsa-miR-549	CLIP-seq
MIRT902147	hsa-miR-550b	CLIP-seq
MIRT2506314	hsa-miR-582-5p	CLIP-seq
MIRT2506315	hsa-miR-613	CLIP-seq
MIRT2203387	hsa-miR-617	CLIP-seq
MIRT2203389	hsa-miR-767-5p	CLIP-seq
MIRT2506316	hsa-miR-873	CLIP-seq
MIRT2506273	hsa-miR-1	CLIP-seq
MIRT2506274	hsa-miR-1208	CLIP-seq
MIRT2506275	hsa-miR-140-5p	CLIP-seq
MIRT2203351	hsa-miR-1915	CLIP-seq
MIRT2506276	hsa-miR-206	CLIP-seq
MIRT1967640	hsa-miR-2117	CLIP-seq
MIRT2506277	hsa-miR-298	CLIP-seq
MIRT2506278	hsa-miR-302a	CLIP-seq
MIRT2506279	hsa-miR-302b	CLIP-seq
MIRT2506280	hsa-miR-302c	CLIP-seq
MIRT2506281	hsa-miR-302d	CLIP-seq
MIRT2506282	hsa-miR-302e	CLIP-seq
MIRT2203356	hsa-miR-3130-3p	CLIP-seq
MIRT2203357	hsa-miR-3143	CLIP-seq
MIRT2506283	hsa-miR-3145-5p	CLIP-seq
MIRT2203358	hsa-miR-3158-5p	CLIP-seq
MIRT2506284	hsa-miR-3180-5p	CLIP-seq
MIRT2506285	hsa-miR-3190	CLIP-seq
MIRT2506286	hsa-miR-323-3p	CLIP-seq
MIRT2203361	hsa-miR-331-3p	CLIP-seq
MIRT2506287	hsa-miR-3613-3p	CLIP-seq
MIRT2506288	hsa-miR-3620	CLIP-seq
MIRT1967644	hsa-miR-3662	CLIP-seq
MIRT2506289	hsa-miR-3673	CLIP-seq
MIRT2203366	hsa-miR-3714	CLIP-seq
MIRT2506290	hsa-miR-372	CLIP-seq
MIRT2506291	hsa-miR-373	CLIP-seq
MIRT1967645	hsa-miR-4273	CLIP-seq
MIRT2506293	hsa-miR-4281	CLIP-seq
MIRT2506294	hsa-miR-4305	CLIP-seq
MIRT2506295	hsa-miR-4318	CLIP-seq
MIRT1967646	hsa-miR-4330	CLIP-seq
MIRT1967647	hsa-miR-4420	CLIP-seq
MIRT2506296	hsa-miR-4424	CLIP-seq
MIRT902125	hsa-miR-4438	CLIP-seq
MIRT2203371	hsa-miR-4476	CLIP-seq
MIRT2203377	hsa-miR-4726-3p	CLIP-seq
MIRT2506297	hsa-miR-4732-3p	CLIP-seq
MIRT2203379	hsa-miR-4768-3p	CLIP-seq
MIRT2506298	hsa-miR-4797-3p	CLIP-seq
MIRT2506299	hsa-miR-494	CLIP-seq
MIRT2506300	hsa-miR-501-3p	CLIP-seq
MIRT2506301	hsa-miR-502-3p	CLIP-seq
MIRT2506302	hsa-miR-508-5p	CLIP-seq
MIRT902138	hsa-miR-5095	CLIP-seq
MIRT2506303	hsa-miR-512-3p	CLIP-seq
MIRT2506304	hsa-miR-520a-3p	CLIP-seq
MIRT2506305	hsa-miR-520a-5p	CLIP-seq
MIRT2506306	hsa-miR-520b	CLIP-seq
MIRT2506307	hsa-miR-520c-3p	CLIP-seq
MIRT2506308	hsa-miR-520d-3p	CLIP-seq
MIRT2506309	hsa-miR-520e	CLIP-seq
MIRT2506310	hsa-miR-525-5p	CLIP-seq
MIRT2506311	hsa-miR-543	CLIP-seq
MIRT2506312	hsa-miR-548n	CLIP-seq
MIRT2506313	hsa-miR-548t	CLIP-seq
MIRT902146	hsa-miR-549	CLIP-seq
MIRT2506315	hsa-miR-613	CLIP-seq
MIRT2203387	hsa-miR-617	CLIP-seq
MIRT2203389	hsa-miR-767-5p	CLIP-seq

28 Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
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	19536132, 24806965, 32296183, 32814053
GO:0005794	Component	Golgi apparatus	IDA	11980916
GO:0005794	Component	Golgi apparatus	IEA
GO:0005801	Component	Cis-Golgi network	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006486	Process	Protein glycosylation	IMP	16420527
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IDA	11929878
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	16420527, 37711075
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IDA	11929878
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IGI	20163571
GO:0007030	Process	Golgi organization	IMP	20163571, 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	11292827, 15047703
GO:0017119	Component	Golgi transport complex	NAS	27066481
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0033365	Process	Protein localization to organelle	IMP	16420527
GO:0050821	Process	Protein stabilization	IMP	16420527
GO:0070085	Process	Glycosylation	IMP	27066481

MIM	HGNC	e!Ensembl
606975	18619	ENSG00000136152

Q96JB2

Protein name

Conserved oligomeric Golgi complex subunit 3 (COG complex subunit 3) (Component of oligomeric Golgi complex 3) (Vesicle-docking protein SEC34 homolog) (p94)

Protein function

Involved in ER-Golgi transport (PubMed:11929878). Also involved in retrograde (Golgi to ER) transport (PubMed:37711075).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04136	Sec34	130 → 277	Sec34-like family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest levels in pancreas and testis and lowest levels in lung. {ECO:0000269|PubMed:11292827}.

Sequence

MAEAALLLLPEAAAERDAREKLALWDRRPDTTAPLTDRQTDSVLELKAAAENLPVPAELP
IEDLCSLTSQSLPIELTSVVPESTEDILLKGFTSLGMEEERIETAQQFFSWFAKLQTQMD
QDEGTKYRQMRDYLSGFQEQCDAILNDVNSALQHLESLQKQYLFVSNKTGTLHEACEQLL
KEQSELVDLAENIQQKLSYFNELETINTKLNSPTLSVNSDGFIPMLAKLDDCITYISSHP
NFKDYPIYLLKFKQCLSKALHLMKTYTVNTLQTLTSQLLKRDPSSVPNADNAFTLFYVKF
RAAAPKVRTLIEQIELRSEKIPEYQQLLNDIHQCYLDQRELLLGPSIACTVAELTSQNNR
DHCALVRSGCAFMVHVCQDEHQLYNEFFTKPTSKLDELLEKLCVSLYDVFRPLIIHVIHL
ETLSELCGILKNEVLEDHVQNNAEQLGAFAAGVKQMLEDVQERLVYRTHIYIQTDITGYK
PAPGDLAYPDKLVMMEQIAQSLKDEQKKVPSEASFSDVHLEEGESNSLTKSGSTESLNPR
PQTTISPADLHGMWYPTVRRTLVCLSKLYRCIDRAVFQGLSQEALSACIQSLLGASESIS
KNKTQIDGQLFLIKHLLILREQIAPFHTEFTIKEISLDLKKTRDAAFKILNPMTVPRFFR
LNSNNALIEFLLEGTPEIREHYLDSKKDVDRHLKSACEQFIQQQTKLFVEQLEEFMTKVS
ALKTMASQGGPKYTLSQQPWAQPAKVNDLAATAYKTIKTKLPVTLRSMSLYLSNKDTEFI
LFKPVRNNIQQVFQKFHALLKEEFSPEDIQIIACPSMEQLSLLLLVSK

Sequence length

828

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL DISORDER OF GLYCOSYLATION	—	ClinGen, GWAS catalog	15728195, 16420527, 20972446, 21421995, 29899178, 37711075	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation, type IIbb	no classifications from unflagged records; Uncertain significance	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet, ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (11)
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34539936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	37711075	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	37711075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37711075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	37711075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37711075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36796022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	10639725, 10987085, 20460380, 9642272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37711075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28535990		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COG2	1	["Congenital disorder of glycosylation"]	3	["COPI-mediated anterograde transport","Retrograde transport at the Trans-Golgi-Network","Intra-Golgi traffic"]	5	["GWAS catalog (Congenital disorder of glycosylation)","ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
COG7	1	["Congenital disorder of glycosylation"]	3	["COPI-mediated anterograde transport","Retrograde transport at the Trans-Golgi-Network","Intra-Golgi traffic"]	5	["GenCC (Congenital disorder of glycosylation)","ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
COG1	1	["Congenital disorder of glycosylation"]	3	["COPI-mediated anterograde transport","Retrograde transport at the Trans-Golgi-Network","Intra-Golgi traffic"]	5	["GenCC (Congenital disorder of glycosylation)","ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
COG8	1	["Congenital disorder of glycosylation"]	3	["COPI-mediated anterograde transport","Retrograde transport at the Trans-Golgi-Network","Intra-Golgi traffic"]	4	["GWAS catalog (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]
COG5	1	["Congenital disorder of glycosylation"]	3	["COPI-mediated anterograde transport","Retrograde transport at the Trans-Golgi-Network","Intra-Golgi traffic"]	5	["GWAS catalog (Congenital disorder of glycosylation)","ClinGen (Congenital disorder of glycosylation)","ClinVar (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","HPO (Congenital disorder of glycosylation)"]

COG3 (component of oligomeric golgi complex 3)

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