SYNDIG1L Gene - Synaptic Differentiation Inducing 1 Like
Comprehensive genomic and functional analysis of SYNDIG1L
Gene Information Card
| Symbol | SYNDIG1L |
|---|---|
| Full Name | synaptic differentiation inducing 1 like |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 374864 ncbi.nlm.nih.gov/gene/374864 |
| Ensembl ID | ENSG00000185883 |
| UniProt ID | Q8N6M0 |
| OMIM ID | 617839 |
| HGNC ID | 34478 |
| Aliases | C14orf37, FAM19A6, TAFA-6 |
Description
SYNDIG1L (synaptic differentiation inducing 1 like) is a protein-coding gene located on chromosome 14q24.3. It belongs to the FAM19A/TAFA family and is involved in synaptic differentiation and neuronal development. The gene encodes a secreted protein that may regulate chemokine-like signaling and cell-cell communication in the nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Heart | 2.0 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown functional effect |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • cell-cell signaling (GO:0007267) |
| • nervous system development (GO:0007399) | • cell differentiation (GO:0030154) |
Pathways
• No specific pathways curated in Reactome or KEGG for SYNDIG1L
Protein Summary
SYNDIG1L encodes a secreted protein of 132 amino acids (UniProt Q8N6M0). It contains a signal peptide and a conserved TAFA domain. The protein is predicted to function as a chemokine-like ligand involved in neuronal migration and synaptic organization. Expression is enriched in brain tissues, particularly in the cortex and hippocampus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNDIG1L Knockout HEK293 Cell Line | EDJ-KQ15581 | Human | 646658 | 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 |
| SYNDIG1L Knockout HCT 116 Cell Line | EDJ-KQ77435 | Human | 646658 | Details Get a Quote |
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