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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COG7
component of oligomeric golgi complex 7
Chromosome 16 Β· 16p12.2
NCBI Gene: 91949Ensembl: ENSG00000168434.14HGNC: HGNC:18622UniProt: A0A0S2Z652
53PubMed Papers
21Diseases
0Drugs
28Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingretrograde transport, vesicle recycling within Golgiintracellular protein transportretrograde vesicle-mediated transport, Golgi to endoplasmic reticulumCOG7-congenital disorder of glycosylationneurodegenerative diseasecongenital disorder of glycosylationgenetic disorder
✦AI Summary

COG7 is a subunit of the conserved oligomeric Golgi (COG) complex, a multisubunit tethering complex essential for Golgi structure and function 1. As part of the COG complex's lobe B, COG7 mediates vesicle docking and fusion at the Golgi apparatus and cooperates with Rab1 and other trafficking regulators to maintain proper Golgi organization and retrograde transport 23. COG7 enables recruitment of regulatory proteins like Rab11 and phosphatidylinositol transfer proteins to membrane addition sites during cytokinesis 1. The protein is critical for glycoprotein biosynthesis, particularly N-glycosylation and O-glycosylation pathways 4. COG7 mutations cause Congenital Disorder of Glycosylation type IIe (CDG-IIe), characterized by progressive microcephaly, growth retardation, hypotonia, cardiac defects, and characteristic cutis laxa with wrinkled skin 56. Patient mutations lead to severe reduction in COG subunits and combined N- and O-linked glycosylation defects with hyposialylation 5. In model organisms, COG7 loss impairs Golgi architecture, neuromotor development, and synaptic function 2. Recent genome-wide association studies identify COG7 variants associated with Alzheimer's disease susceptibility 7. These findings establish COG7 as a critical determinant of Golgi functional integrity required for cellular metabolism and neurological homeostasis.

Sources cited
1
COG7 is enriched in Golgi stacks, required for Golgi architecture, enables Rab11 and Giotto recruitment to cleavage sites during cytokinesis
PMID: 22946051
2
COG7 deficiency causes neuromotor defects and altered N-glycome profiles; COG complex cooperates with Rab1 in Golgi trafficking
PMID: 28883096
3
COG7 (Cog5-Cog7 interaction) is a CATCHR-fold family member; Cog5-Cog7 interface is conserved and essential for trafficking and glycosylation
PMID: 25331899
4
COG7 mutations are among 29 congenital disorders of glycosylation linked to cardiomyopathies and cardiac defects
PMID: 37239976
5
COG7 mutations cause CDG-IIe with microcephaly, growth retardation, cardiac anomalies, hyperthermia; mutations reduce COG5 and COG7 subunits; combined N- and O-linked glycosylation defects detected
PMID: 17356545
6
COG7 defect is linked to cutis laxa, a metabolic cutis laxa syndrome characterized by wrinkled, inelastic skin
PMID: 21431621
7
COG7 variants identified as novel locus associated with Alzheimer's disease risk through machine learning analysis
PMID: 40691194
Disease Associationsβ“˜21
COG7-congenital disorder of glycosylationOpen Targets
0.81Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
congenital disorder of glycosylationOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.19Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.06Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.06Suggestive
macular corneal dystrophyOpen Targets
0.05Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
autosomal dominant keratitisOpen Targets
0.05Suggestive
Romano-Ward syndromeOpen Targets
0.05Suggestive
cataract 46 juvenile-onsetOpen Targets
0.05Suggestive
Familial short QT syndromeOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
granular corneal dystrophy type IIOpen Targets
0.05Suggestive
Peters anomalyOpen Targets
0.05Suggestive
ocular cystinosisOpen Targets
0.04Suggestive
congenital glaucomaOpen Targets
0.04Suggestive
central cloudy dystrophy of FranΓ§oisOpen Targets
0.04Suggestive
Congenital disorder of glycosylation 2EUniProt
Pathogenic Variants28
NM_153603.4(COG7):c.323dup (p.Leu108fs)Pathogenic
not provided|COG7 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 108
NM_153603.4(COG7):c.318+1G>ALikely pathogenic
not provided|COG7 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)Pathogenic
COG7 congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 444
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2022β†’ Residue 606
NM_153603.4(COG7):c.1009+1G>ALikely pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025
NM_153603.4(COG7):c.1673C>A (p.Ser558Ter)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 558
NM_153603.4(COG7):c.1999C>T (p.Gln667Ter)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 667
NM_153603.4(COG7):c.669C>A (p.Tyr223Ter)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 223
NM_153603.4(COG7):c.1887+1G>ALikely pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024
NM_153603.4(COG7):c.1702C>T (p.Arg568Ter)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 568
NM_153603.4(COG7):c.343_344insTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCGCTCCCTCTCCCGGCTCCCGCTCCCGCTCCCGGGGCCCTCTCCCGCGCGCGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAATTGACCAAGTGA (p.Lys115delinsIleProLeuProLeuProSerProSerProSerProValSerArgSerLeuSerArgLeuProLeuProLeuProGlyProSerProAlaArgGlyXaaXaaXaaXaaLysLysLysLysLysLysArgAsnTer)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 115
NM_153603.4(COG7):c.1410-2A>TLikely pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024
NM_153603.4(COG7):c.848T>G (p.Leu283Arg)Likely pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 283
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 603
NM_153603.4(COG7):c.79G>T (p.Glu27Ter)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 27
NM_153603.4(COG7):c.687+1G>ALikely pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024
NM_153603.4(COG7):c.1375del (p.Gln459fs)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 459
NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 232
NM_153603.4(COG7):c.1255dup (p.Cys419fs)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 419
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)Pathogenic
COG7 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2023β†’ Residue 595
View on ClinVar β†—
Related Genes
RIC1Protein interaction100%VTI1AProtein interaction100%STX6Protein interaction98%GOSR1Protein interaction96%GOLGA5Protein interaction96%COG2Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
85%
Liver
75%
Lung
73%
Heart
65%
Brain
62%
Gene Interaction Network
Click a node to explore
COG7RIC1VTI1ASTX6GOSR1GOLGA5COG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P83436
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.39–0.65]
RankingsWhere COG7 stands among ~20K protein-coding genes
  • #8,412of 20,598
    Most Researched53
  • #1,875of 5,498
    Most Pathogenic Variants28
  • #4,730of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedCOG7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Machine learning in Alzheimer's disease genetics.
PMID: 40691194
Nat Commun Β· 2025
1.00
2
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
0.90
3
PMID: 20301507
0.80
4
Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis.
PMID: 22946051
J Cell Sci Β· 2012
0.70
5
COG-imposed Golgi functional integrity determines the onset of dark-induced senescence.
PMID: 37884654
Nat Plants Β· 2023
0.60