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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GOLGA2
golgin A2
Chromosome 9 · 9q34.11
NCBI Gene: 2801Ensembl: ENSG00000167110.19HGNC: HGNC:4425UniProt: A0A8I5KNZ1
199PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of autophagyregulation of post-translational protein modificationprotein bindingmicrotubule bindingdevelopmental delay with hypotonia, myopathy, and brain abnormalitiesAlzheimer diseaseneuromuscular diseaseazoospermia
✦AI Summary

GOLGA2 (golgin A2) is a peripheral membrane protein of the cis-Golgi that functions as both a structural scaffolding component and vesicle tether. Its primary role is maintaining Golgi apparatus architecture and facilitating vesicle fusion through interactions with p115/USO1 and STX5 1. GOLGA2 is essential for ER-to-Golgi protein transport and requires phosphorylation at Ser-37 by CDK1 during mitosis to inhibit p115 interaction, thereby suppressing Golgi transport during cell division 1. Beyond vesicle trafficking, GOLGA2 plays a critical role in mitotic spindle assembly by recruiting the spindle assembly factor TPX2 through importin-alpha interactions at the Golgi membrane, enabling microtubule nucleation and capture 2. The protein also regulates meiotic spindle pole and centrosome organization through similar mechanisms 2. GOLGA2 connects the Golgi network to autophagy regulation, serving as a docking site for RAB2 and GABARAP, thereby linking membrane trafficking to autophagic pathway initiation 34. Clinically, GOLGA2 mutations are associated with developmental delay accompanied by hypotonia, myopathy, and brain abnormalities 1. These pleiotropic functions—spanning membrane trafficking, cell division machinery organization, and autophagy regulation—underscore GOLGA2's significance in coordinating multiple cellular processes essential for normal development and neural function.

Sources cited
1
GOLGA2 identified as candidate disease gene with homozygous likely deleterious variants in patients with neurodevelopmental phenotypes
PMID: 30237576
2
GOLGA2 (GM130) interacts with spindle components and regulates spindle assembly during oocyte meiosis
PMID: 38513669
3
GOLGA2/GM130 Golgi localization affects autophagy through displacement of GABARAP and maintenance of centrosomal GABARAP pool
PMID: 26986052
4
GOLGA2/GM130 serves as Golgi docking site for RAB2, connecting Golgi network to autophagosome and autolysosome formation
PMID: 30957628
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
developmental delay with hypotonia, myopathy, and brain abnormalitiesOpen Targets
0.67Moderate
Alzheimer diseaseOpen Targets
0.37Weak
neuromuscular diseaseOpen Targets
0.27Weak
azoospermiaOpen Targets
0.08Suggestive
obesityOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.05Suggestive
spermatogenic failure 93Open Targets
0.05Suggestive
spermatogenic failure 54Open Targets
0.05Suggestive
spermatogenic failure 91Open Targets
0.05Suggestive
spermatogenic failure 56Open Targets
0.05Suggestive
spermatogenic failure 92Open Targets
0.05Suggestive
spermatogenic failure 94Open Targets
0.05Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
spermatogenic failure 78Open Targets
0.05Suggestive
spermatogenic failure 39Open Targets
0.05Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.05Suggestive
spermatogenic failure 72Open Targets
0.05Suggestive
Developmental delay with hypotonia, myopathy, and brain abnormalitiesUniProt
Pathogenic Variants10
NM_001366244.2(GOLGA2):c.574C>T (p.Gln192Ter)Pathogenic
not provided|Developmental delay with hypotonia, myopathy, and brain abnormalities
★★☆☆2022→ Residue 192
NM_001366244.2(GOLGA2):c.1120del (p.Leu374fs)Pathogenic
Developmental delay with hypotonia, myopathy, and brain abnormalities
★☆☆☆2024→ Residue 374
NM_001366244.2(GOLGA2):c.2054_2057del (p.Lys685fs)Pathogenic
Developmental delay with hypotonia, myopathy, and brain abnormalities
★☆☆☆2024→ Residue 685
NM_001366244.2(GOLGA2):c.2718+2T>CLikely pathogenic
not provided
★☆☆☆2022
NM_001366244.2(GOLGA2):c.615_618del (p.Lys205fs)Pathogenic
not provided
★☆☆☆2022→ Residue 205
NM_001366244.2(GOLGA2):c.651_652del (p.Asn218fs)Pathogenic
not provided
★☆☆☆2022→ Residue 218
NM_001366244.2(GOLGA2):c.1582G>T (p.Glu528Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 528
NM_001366244.2(GOLGA2):c.2332C>T (p.Gln778Ter)Likely pathogenic
Neuromuscular disease|Developmental delay with hypotonia, myopathy, and brain abnormalities
★☆☆☆→ Residue 778
NM_001366244.2(GOLGA2):c.1675_1676insACCG (p.Arg559fs)Pathogenic
Developmental delay with hypotonia, myopathy, and brain abnormalities
☆☆☆☆2023→ Residue 559
NM_001366244.2(GOLGA2):c.1347_1350del (p.Glu450fs)Pathogenic
Developmental delay with hypotonia, myopathy, and brain abnormalities
☆☆☆☆2023→ Residue 450
View on ClinVar ↗
Related Genes
SCFD1Protein interaction100%GOSR2Protein interaction100%STK26Protein interaction100%SEC22AProtein interaction100%RAB2AProtein interaction99%VCPIP1Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Ovary
77%
Lung
73%
Liver
69%
Bone Marrow
56%
Brain
51%
Gene Interaction Network
Click a node to explore
GOLGA2SCFD1GOSR2STK26SEC22ARAB2AVCPIP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6K06 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.23–0.41]
RankingsWhere GOLGA2 stands among ~20K protein-coding genes
  • #2,122of 20,598
    Most Researched199 · top quartile
  • #2,829of 5,498
    Most Pathogenic Variants10
  • #2,069of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedGOLGA2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med · 2019
0.90
3
PLD1 promotes spindle assembly and migration through regulating autophagy in mouse oocyte meiosis.
PMID: 38513669
Autophagy · 2024
0.80
4
ATP2A2 regulates STING1/MITA-driven signal transduction including selective autophagy.
PMID: 40265346
Autophagy · 2025
0.70
5
Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.
PMID: 34424553
Clin Genet · 2021
0.64