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8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GDAP2
ganglioside induced differentiation associated protein 2
Chromosome 1 Β· 1p12
NCBI Gene: 54834Ensembl: ENSG00000196505.12HGNC: HGNC:18010UniProt: Q9NXN4
23PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinglysosomal membranespinocerebellar ataxia, autosomal recessive, 27preeclampsiaalcohol drinkingsinusitis
✦AI Summary

GDAP2 (ganglioside-induced differentiation-associated protein 2) is a lysosomal membrane-associated protein highly expressed in the brain 1. Its primary function involves cellular stress responses, as GDAP2 knockdown in Drosophila increased sensitivity to reactive oxygen species and nutrient deprivation 2. Mechanistically, GDAP2 overexpression enhances neuronal development, increasing dendritic spine complexity and neuronal morphological complexity in hippocampal neurons 1. However, elevated GDAP2 expression dysregulates excitatory synaptic transmission, increasing miniature excitatory postsynaptic current (mEPSC) frequency and seizure susceptibility in epileptic models 1. Clinically, biallelic GDAP2 mutations cause spinocerebellar ataxia, autosomal recessive 27, characterized by progressive cerebellar degeneration with adult-onset ataxia, spasticity, and dementia 2. Neuropathological changes include cerebellar, olivary, thalamic, substantia nigra, and pyramidal tract degeneration with tau pathology 2. Loss-of-function mutations impair cellular stress responses, leading to motor dysfunction and reduced lifespan in model organisms 2. Recent genetic studies identified rare GDAP2 variants associated with Alzheimer's disease risk in Hispanic populations 3, suggesting broader neurological relevance beyond cerebellar ataxia.

Sources cited
1
GDAP2 is highly expressed in the brain; overexpression increases dendritic spine complexity and dysregulates excitatory synaptic transmission
PMID: 35158016
2
Biallelic GDAP2 mutations cause autosomal recessive cerebellar ataxia with progressive neurodegeneration; GDAP2 function involves cellular stress responses
PMID: 30084953
3
GDAP2 variants are detected in ataxia patients through whole exome sequencing
PMID: 38587696
4
Rare GDAP2 variants are associated with Alzheimer's disease risk in Hispanic populations
PMID: 41755704
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
spinocerebellar ataxia, autosomal recessive, 27Open Targets
0.66Moderate
preeclampsiaOpen Targets
0.13Weak
alcohol drinkingOpen Targets
0.10Weak
sinusitisOpen Targets
0.07Suggestive
respiratory tract infectious disorderOpen Targets
0.07Suggestive
androgenetic alopeciaOpen Targets
0.04Suggestive
osteoarthritis, hipOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
obesityOpen Targets
0.03Suggestive
smoking behaviorOpen Targets
0.03Suggestive
congenital heart malformationOpen Targets
0.03Suggestive
injuryOpen Targets
0.02Suggestive
Hammer Toe SyndromeOpen Targets
0.02Suggestive
age-related hearing impairmentOpen Targets
0.02Suggestive
alopeciaOpen Targets
0.02Suggestive
cardiomyopathyOpen Targets
0.02Suggestive
autosomal recessive cerebellar ataxiaOpen Targets
0.01Suggestive
DystoniaOpen Targets
0.01Suggestive
cerebellar ataxiaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Spinocerebellar ataxia, autosomal recessive, 27UniProt
Pathogenic Variants8
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive 27
β˜…β˜…β˜†β˜†2026β†’ Residue 316
NM_017686.4(GDAP2):c.1107+1G>TLikely pathogenic
Spinocerebellar ataxia, autosomal recessive 27
β˜…β˜†β˜†β˜†2024
NM_017686.4(GDAP2):c.1048C>T (p.Arg350Ter)Likely pathogenic
GDAP2-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 350
NM_017686.4(GDAP2):c.757C>T (p.Arg253Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 253
NM_017686.4(GDAP2):c.1030+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_017686.4(GDAP2):c.134del (p.Pro45fs)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 27
β˜†β˜†β˜†β˜†2022β†’ Residue 45
NM_017686.4(GDAP2):c.1305dup (p.Ser436fs)Pathogenic
Spinocerebellar ataxia, autosomal recessive 27
β˜†β˜†β˜†β˜†2019β†’ Residue 436
NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs)Pathogenic
Spinocerebellar ataxia, autosomal recessive 27
β˜†β˜†β˜†β˜†2019β†’ Residue 400
View on ClinVar β†—
Related Genes
MACROH2A2Protein interaction80%PARP15Protein interaction76%PARP9Protein interaction74%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
60%
Brain
57%
Lung
56%
Ovary
40%
Heart
39%
Gene Interaction Network
Click a node to explore
GDAP2MACROH2A2PARP15PARP9
PROTEIN STRUCTURE
Preparing viewer…
PDB4UML Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.54LoF Tolerant
pLIβ“˜
0.05Tolerant
Observed/Expected LoF0.70 [0.34–1.54]
RankingsWhere GDAP2 stands among ~20K protein-coding genes
  • #13,423of 20,598
    Most Researched23
  • #3,133of 5,498
    Most Pathogenic Variants8
  • #15,411of 17,882
    Most Constrained (LOEUF)1.54
Genes detectedGDAP2
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
GDAP2 Overexpression Affects the Development of Neurons and Dysregulates Neuronal Excitatory Synaptic Transmission.
PMID: 35158016
Neuroscience Β· 2022
1.00
2
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
PMID: 30084953
Brain Β· 2018
0.88
3
Targeting SARS-CoV-2 Nsp3 macrodomain structure with insights from human poly(ADP-ribose) glycohydrolase (PARG) structures with inhibitors.
PMID: 33636189
Prog Biophys Mol Biol Β· 2021
0.75
4
Genetic aspects of ataxias in a cohort of Turkish patients.
PMID: 38587696
Neurol Sci Β· 2024
0.63
5
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
PMID: 32428197
Brain Β· 2020
0.50