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MIRAGE
gap junction protein gamma 2
Summary
- Gene Symbol
-
- GJC2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cell membrane
- Disease variant
- Gap junction
- Hereditary spastic paraplegia
- Leukodystrophy
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A654IBV7 |
|
| Q5T442 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell-cell signaling | ||
| response to toxic substance | ||
| positive regulation of gene expression | ||
| cell communication by electrical coupling | ||
| transmembrane transport |
GO Hierarchy
biological process
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| gap junction | ||
| connexin complex | ||
| paranode region of axon | ||
| perikaryon | ||
| myelin sheath |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| gap junction channel activity | ||
| gap junction channel activity involved in cell communication by electrical coupling |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Gap junction gamma-1 protein-like protein
- Functional Category
-
- K: Transcription
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| cell communication |
| cell-cell signaling |
| InterPro |
|---|
| Connexin, N-terminal domain superfamily |
| Connexin, N-terminal |
| Connexin, conserved site |
| Connexin |
| Gap junction protein, cysteine-rich domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060787 | hypomyelinating leukodystrophy 2 | |
| DOID:0070208 | hereditary lymphedema IC | |
| DOID:0110796 | hereditary spastic paraplegia 44 | |
| DOID:4977 | lymphedema |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 2823 | Xenbase:XB-GENE-1000183 | ||
| 57165 | Xenbase:XB-GENE-968864 | ||
| 118454 | MOUSE03352 | ||
| 234267 | Xenbase:XB-GENE-1000183 | ||
| 306439 | Xenbase:XB-GENE-1000183 | ||
| 447835 | DANRE29039 | ||
| 497913 | RATNO00749 | ||
| 538745 | BOVIN32083 | ||
| 695161 | MACMU21816 | ||
| 739535 | PANTR23860 |
