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	91949
Gene name	Component of oligomeric golgi complex 7
Gene symbol	COG7
Synonyms (NCBI Gene)	CDG2E
Chromosome	16
Chromosome location	16p12.2
Summary	The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the co

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115605801	T>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs149163316	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs201446992	A>G	Likely-pathogenic	Splice donor variant
rs370447404	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs548129734	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs769603091	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs797044712	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057519232	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555493029	C>A	Pathogenic	Splice acceptor variant
rs1555496968	T>C	Pathogenic	Intron variant
rs1555497568	T>G	Pathogenic	Intron variant, 5 prime UTR variant
rs1555497604	A>G	Likely-pathogenic	Missense variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT518040	hsa-miR-4438	PAR-CLIP	23446348
MIRT518039	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518038	hsa-miR-5095	PAR-CLIP	23446348
MIRT518037	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518036	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518040	hsa-miR-4438	PAR-CLIP	23446348
MIRT518039	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518038	hsa-miR-5095	PAR-CLIP	23446348
MIRT518037	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518036	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT902312	hsa-miR-1244	CLIP-seq
MIRT902313	hsa-miR-128	CLIP-seq
MIRT902314	hsa-miR-1305	CLIP-seq
MIRT902315	hsa-miR-199a-3p	CLIP-seq
MIRT902316	hsa-miR-199b-3p	CLIP-seq
MIRT902317	hsa-miR-27a	CLIP-seq
MIRT902318	hsa-miR-27b	CLIP-seq
MIRT902319	hsa-miR-3129-5p	CLIP-seq
MIRT902320	hsa-miR-33a	CLIP-seq
MIRT902321	hsa-miR-33b	CLIP-seq
MIRT902322	hsa-miR-498	CLIP-seq
MIRT902323	hsa-miR-513a-5p	CLIP-seq
MIRT902312	hsa-miR-1244	CLIP-seq
MIRT902313	hsa-miR-128	CLIP-seq
MIRT902315	hsa-miR-199a-3p	CLIP-seq
MIRT902316	hsa-miR-199b-3p	CLIP-seq
MIRT902317	hsa-miR-27a	CLIP-seq
MIRT902318	hsa-miR-27b	CLIP-seq
MIRT902319	hsa-miR-3129-5p	CLIP-seq
MIRT902320	hsa-miR-33a	CLIP-seq
MIRT902321	hsa-miR-33b	CLIP-seq
MIRT902323	hsa-miR-513a-5p	CLIP-seq
MIRT902312	hsa-miR-1244	CLIP-seq
MIRT902314	hsa-miR-1305	CLIP-seq
MIRT2203424	hsa-miR-3156-5p	CLIP-seq
MIRT902322	hsa-miR-498	CLIP-seq
MIRT2506396	hsa-miR-2053	CLIP-seq
MIRT2506397	hsa-miR-3149	CLIP-seq
MIRT2506398	hsa-miR-3194-3p	CLIP-seq
MIRT2506399	hsa-miR-4775	CLIP-seq
MIRT2506400	hsa-miR-4797-5p	CLIP-seq
MIRT2506401	hsa-miR-569	CLIP-seq
MIRT2506402	hsa-miR-590-3p	CLIP-seq
MIRT2506403	hsa-miR-720	CLIP-seq

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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, 21903422, 25416956, 26871637, 31515488, 32296183, 33961781
GO:0005730	Component	Nucleolus	IDA
GO:0005794	Component	Golgi apparatus	IDA	11980916
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IMP	15107842, 16420527
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	IMP	15107842
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	16420527, 16510524
GO:0007030	Process	Golgi organization	IBA
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:0033365	Process	Protein localization to organelle	IMP	16420527
GO:0034067	Process	Protein localization to Golgi apparatus	IMP	16510524
GO:0050821	Process	Protein stabilization	IMP	16420527, 16510524
GO:0070085	Process	Glycosylation	IMP	27066481

MIM	HGNC	e!Ensembl
606978	18622	ENSG00000168434

P83436

Protein name

Conserved oligomeric Golgi complex subunit 7 (COG complex subunit 7) (Component of oligomeric Golgi complex 7)

Protein function

Required for normal Golgi function.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10191	COG7	2 → 767	Golgi complex component 7 (COG7)	Family

Sequence

MDFSKFLADDFDVKEWINAAFRAGSKEAASGKADGHAATLVMKLQLFIQEVNHAVEETSH
QALQNMPKVLRDVEALKQEASFLKEQMILVKEDIKKFEQDTSQSMQVLVEIDQVKSRMQL
AAESLQEADKWSTLSADIEETFKTQDIAVISAKLTGMQNSLMMLVDTPDYSEKCVHLEAL
KNRLEALASPQIVAAFTSQAVDQSKVFVKVFTEIDRMPQLLAYYYKCHKVQLLAAWQELC
QSDLSLDRQLTGLYDALLGAWHTQIQWATQVFQKPHEVVMVLLIQTLGALMPSLPSCLSN
GVERAGPEQELTRLLEFYDATAHFAKGLEMALLPHLHEHNLVKVTELVDAVYDPYKPYQL
KYGDMEESNLLIQMSAVPLEHGEVIDCVQELSHSVNKLFGLASAAVDRCVRFTNGLGTCG
LLSALKSLFAKYVSDFTSTLQSIRKKCKLDHIPPNSLFQEDWTAFQNSIRIIATCGELLR
HCGDFEQQLANRILSTAGKYLSDSCSPRSLAGFQESILTDKKNSAKNPWQEYNYLQKDNP
AEYASLMEILYTLKEKGSSNHNLLAAPRAALTRLNQQAHQLAFDSVFLRIKQQLLLISKM
DSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFVTQEDSALELALHAGK
LPFPPEQGDELPELDNMADNWLGSIARATMQTYCDAILQIPELSPHSAKQLATDIDYLIN
VMDALGLQPSRTLQHIVTLLKTRPEDYRQVSKGLPRRLATTVATMRSVNY

Sequence length

770

Interactions

View interactions

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

481

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COG7 congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs768615420, rs1036433681, rs1051352713, rs945537370, rs1555497568, rs1555496968, rs797044712, rs2506642569, rs2506592783, rs2506584752, rs2506639430, rs1963666828, rs780863769, rs2506567482, rs1963459711 View all (4 more)	RCV001821868 RCV001821869 RCV001815626 RCV003089136 RCV000003835 RCV000003836 RCV001852190 RCV002805642 RCV002828325 RCV002857191 RCV003029764 RCV003059190 RCV003233294 RCV003504081 RCV003609309 RCV003610188 RCV003610189 RCV000662352 RCV000662353

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity	rs199939503, rs199904223	RCV005922486 RCV005894426
Cholangiocarcinoma	Likely benign	rs199939503	RCV005922490
COG7-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs16940094, rs8057712, rs115605801, rs144180834, rs773660021, rs373631927, rs146818767, rs1448513281, rs71379679, rs116331296, rs367796897, rs544015151, rs146918812, rs149481813, rs373366651 View all (9 more)	RCV003974992 RCV003974993 RCV003964948 RCV003933562 RCV003410127 RCV003418670 RCV003966567 RCV004731579 RCV003929742 RCV003924217 RCV003940247 RCV003950085 RCV003940248 RCV004755872 RCV004755873 RCV003902606 RCV004755918 RCV003959997 RCV003980177 RCV003980151 RCV004756042 RCV003975431 RCV003970743 RCV004756068 RCV003958247
Congenital disorder of glycosylation	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs758228401, rs567617218, rs71379679, rs150104389, rs886051818	RCV000323794 RCV000352095 RCV000339395 RCV000385326 RCV000397137
Familial cancer of breast	Benign; Likely benign	rs250586, rs199939503	RCV005914830 RCV005922485
Gastric cancer	Likely benign	rs199939503	RCV005922488
Hepatocellular carcinoma	Benign	rs250586	RCV005914831
Malignant tumor of esophagus	Likely benign; Benign	rs199939503, rs71379679	RCV005922487 RCV005868136
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs199904223	RCV005894427
Uterine carcinosarcoma	Likely benign	rs199939503	RCV005922489

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Congenital Disorders of Glycosylation	Associate	16510524, 23228021
Multiple Organ Failure	Associate	19690088
Nervous System Diseases	Associate	19690088

COG7 (component of oligomeric golgi complex 7)