GJD3 (Gap Junction Protein Delta 3)
A connexin family member involved in intercellular communication and cardiac function.
Gene Information Card
| Symbol | GJD3 |
|---|---|
| Full Name | Gap Junction Protein Delta 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 125111 ncbi.nlm.nih.gov/gene/125111 |
| Ensembl ID | ENSG00000183150 |
| UniProt ID | Q8N144 |
| OMIM ID | 607425 |
| HGNC ID | 19194 |
| Aliases | CX31.9, GJA11, connexin 31.9 |
Description
GJD3 (gap junction protein delta 3) encodes connexin 31.9 (Cx31.9), a member of the connexin family that forms gap junction channels facilitating intercellular communication. The protein is expressed in the heart, brain, and other tissues, and is involved in electrical coupling and signal transduction. Mutations in GJD3 have been associated with atrial fibrillation and other cardiac conduction disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atrial fibrillation | Altered gap junction function leading to abnormal electrical conduction | ClinVar: pathogenic variants reported |
| Cardiac conduction defect | Impaired intercellular coupling in cardiomyocytes | OMIM: 607425 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 3.1 | Not detected |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.0 | Primary cell type |
| SH-SY5Y | 2.5 | Neuronal cell line |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Altered channel conductance |
| c.223G>A (p.Val75Ile) | Missense | Rare | Reduced gap junction function |
Mutation functional classification
Loss of Function (LOF)
p.Val75Ile reduces channel conductance
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
p.Thr34Met may interfere with wild-type connexin assembly
View complete mutation data：
Gene Ontology (GO)
| • connexin complex (GO:0005922) | • gap junction channel activity (GO:0005243) |
| • cell communication by electrical coupling (GO:0007154) | • gap junction assembly (GO:0016265) |
Pathways
• Gap junction trafficking and assembly
• Cardiac conduction
Protein Summary
Connexin 31.9 (Cx31.9) is a transmembrane protein that assembles into hexameric connexons, forming gap junction channels. These channels allow the direct transfer of ions and small molecules between adjacent cells, critical for electrical synchronization in the heart and neural signaling. The protein contains four transmembrane domains, two extracellular loops, and cytoplasmic N- and C-termini.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GJD3 Knockout HEK293 Cell Line | EDJ-KQ8737 | Human | 125111 | Details Get a Quote |
| GJD3 Knockout A-549 Cell Line | EDJ-KQ34983 | Human | 125111 | Details Get a Quote |
| GJD3 Knockout HeLa Cell Line | EDJ-KQ58149 | Human | 125111 | Details Get a Quote |
| GJD3 Knockout HCT 116 Cell Line | EDJ-KQ75054 | Human | 125111 | Details Get a Quote |
