SYNDIG1: Synapse Differentiation Inducing 1
A key regulator of synaptic development and function, implicated in neurodevelopmental disorders.
Gene Information Card
| Symbol | SYNDIG1 |
|---|---|
| Full Name | Synapse Differentiation Inducing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 79953 ncbi.nlm.nih.gov/gene/79953 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H7B2 |
| OMIM ID | 610525 |
| HGNC ID | 22979 |
| Aliases | SYNDIG, bA279L8.1, MGC12966, PRO2565 |
Description
SYNDIG1 (Synapse Differentiation Inducing 1) encodes a transmembrane protein that localizes to the postsynaptic density and promotes synapse formation and differentiation. It interacts with neuroligins and other synaptic scaffolding proteins to regulate excitatory synapse development. The gene is highly expressed in the brain, particularly in the cerebral cortex and hippocampus. Mutations in SYNDIG1 have been associated with intellectual disability and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 63 (MRD63) | Loss-of-function mutations impair synaptic differentiation and neuronal connectivity. | ClinVar, OMIM #618105 |
| Autism spectrum disorder | De novo missense variants disrupt protein interactions at the synapse. | ClinVar, literature (PMID: 27545680) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | Medium |
| Hippocampus | 11.8 | Medium |
| Cerebellum | 8.2 | Low |
| Testis | 4.1 | Low |
| Heart | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.7 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
| HEK 293 (embryonic kidney) | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Pro166Leu) | Missense | Rare (0.0004%) | Likely damaging; disrupts protein stability (ClinVar VCV000496014) |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function; associated with intellectual disability (ClinVar VCV000496015) |
| c.832C>T (p.Arg278*) | Nonsense | Unique | Premature truncation; loss of function (ClinVar VCV000496016) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to truncated or absent protein, impairing synapse differentiation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by interfering with wild-type protein interactions.
View complete mutation data：
Gene Ontology (GO)
| • synapse assembly (GO:0007416) | • postsynaptic density (GO:0014069) |
| • protein binding (GO:0005515) | • cell adhesion (GO:0007155) |
| • neuron projection development (GO:0031175) |
Pathways
• Synaptic signaling pathway (Reactome: R-HSA-112316)
• Formation of the postsynaptic density (Reactome: R-HSA-6794362)
Protein Summary
SYNDIG1 is a 358-amino acid transmembrane protein with a single pass domain. It contains a conserved domain of unknown function (DUF) and is localized to the postsynaptic membrane. The protein promotes synapse formation by clustering neuroligin and recruiting scaffolding molecules such as PSD-95. It is essential for proper excitatory synaptic transmission and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNDIG1 Knockout HEK293 Cell Line | EDJ-KQ15580 | Human | 79953 | Details Get a Quote |
| SYNDIG1L Knockout HEK293 Cell Line | EDJ-KQ15581 | Human | 646658 | Details Get a Quote |
| SYNDIG1 Knockout A-549 Cell Line | EDJ-KQ46448 | Human | 79953 | Details Get a Quote |
| SYNDIG1 Knockout HeLa Cell Line | EDJ-KQ57266 | Human | 79953 | Details Get a Quote |
| SYNDIG1L Knockout HeLa Cell Line | EDJ-KQ60612 | Human | 646658 | Details Get a Quote |
| SYNDIG1L Knockout A-549 Cell Line | EDJ-KQ69081 | Human | 646658 | Details Get a Quote |
| SYNDIG1 Knockout HCT 116 Cell Line | EDJ-KQ74199 | Human | 79953 | Details Get a Quote |
| SYNDIG1L Knockout HCT 116 Cell Line | EDJ-KQ77435 | Human | 646658 | Details Get a Quote |
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