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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SYNDIG1
synapse differentiation inducing 1
Chromosome 20 · 20p11.21
NCBI Gene: 79953Ensembl: ENSG00000101463.7HGNC: HGNC:15885UniProt: Q9H7V2
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of synapse assemblyprotein bindingdendritic shaftcell bodyneurodegenerative diseaseSubdural hemorrhagetype 2 diabetes mellitusovarian dysfunction
✦AI Summary

SYNDIG1 (synapse differentiation inducing 1) is a type II transmembrane protein that plays a critical role in excitatory synapse development and AMPA receptor regulation at nascent synapses 1. The protein directly binds to AMPA receptor subunit GluA2 and colocalizes with AMPA receptors both at synapses and extrasynaptic sites 1. Unlike traditional AMPA receptor auxiliary subunits, SYNDIG1 does not alter AMPA receptor gating, pharmacology, or surface trafficking 2. Instead, it regulates excitatory synaptogenesis by controlling the number of functional excitatory synapses, affecting both AMPA and NMDA receptor-mediated transmission 2. The protein's activity is regulated by neuronal activity, with its content in dendritic spines being activity-dependent 1. SYNDIG1 belongs to the dispanin family of transmembrane proteins involved in CNS synapse development and neurotransmitter release regulation 3. In disease contexts, SYNDIG1 has been implicated in cancer prognosis models and Alzheimer's disease risk through epigenetic mechanisms, with brain methylation levels at the SYNDIG1 locus associated with Braak stage progression 4. The protein represents a unique class of synaptogenic factors essential for proper excitatory circuit formation.

Sources cited
1
SYNDIG1 is a type II transmembrane protein that regulates AMPA receptor content at developing synapses and binds to GluA2 subunit
PMID: 20152115
2
SYNDIG1 regulates excitatory synaptogenesis independent of AMPA receptor trafficking and does not alter receptor biophysical properties
PMID: 23785483
3
SYNDIG1 belongs to the dispanin family of transmembrane proteins involved in CNS synapse development
PMID: 39025729
4
SYNDIG1 locus shows epigenetic associations with Alzheimer's disease risk and Braak stage progression
PMID: 39177846
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
Subdural hemorrhageOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
ovarian dysfunctionOpen Targets
0.28Weak
infectious arthritisOpen Targets
0.28Weak
asthmaOpen Targets
0.27Weak
thyroid diseaseOpen Targets
0.27Weak
frozen shoulderOpen Targets
0.27Weak
movement disorderOpen Targets
0.26Weak
peripheral vascular diseaseOpen Targets
0.21Weak
alcohol drinkingOpen Targets
0.20Weak
corneal ulcerOpen Targets
0.18Weak
circadian rhythm sleep disorderOpen Targets
0.17Weak
dermatophytosisOpen Targets
0.17Weak
musculoskeletal system diseaseOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.16Weak
breast carcinomaOpen Targets
0.04Suggestive
depressive disorderOpen Targets
0.03Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.03Suggestive
AnxietyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRIA1Protein interaction100%CNIH2Protein interaction99%SHISA9Protein interaction86%LRRC24Shared pathway25%LRRTM1Shared pathway25%TRIM47Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Brain
22%
Ovary
1%
Lung
1%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SYNDIG1GRIA1CNIH2SHISA9LRRC24LRRTM1TRIM47
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H7V2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF0.54 [0.27–1.24]
RankingsWhere SYNDIG1 stands among ~20K protein-coding genes
  • #15,409of 20,598
    Most Researched16
  • #13,104of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedSYNDIG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The 'dispanins' and related proteins in physiology and neurological disease.
PMID: 39025729
Trends Neurosci · 2024
1.00
2
SynDIG1: an activity-regulated, AMPA- receptor-interacting transmembrane protein that regulates excitatory synapse development.
PMID: 20152115
Neuron · 2010
0.90
3
SynDIG1 promotes excitatory synaptogenesis independent of AMPA receptor trafficking and biophysical regulation.
PMID: 23785483
PLoS One · 2013
0.80
4
Auxiliary subunits provide new insights into regulation of AMPA receptor trafficking.
PMID: 23426437
J Biochem · 2013
0.70
5
International Prognostic Index-Based Immune Prognostic Model for Diffuse Large B-Cell Lymphoma.
PMID: 34745101
Front Immunol · 2021
0.60