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MIRAGE
Gap junction gamma-2 protein
Summary
- UniProt ID
- Q5T442
- Gene Symbol
-
- GJA12
- GJC2
- Gene ID
- 57165
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cell membrane
- Disease variant
- Gap junction
- Hereditary spastic paraplegia
- Leukodystrophy
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| paranode region of axon |
| myelin sheath |
| gap junction |
| perikaryon |
| proximal neuron projection |
| connexin complex |
| GO Term |
|---|
| gap junction channel activity |
| gap junction channel activity involved in cell communication by electrical coupling |
Sequence
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 10 |
|
|||
| 191 |
|
|
||
| 195 |
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Gap junction assembly | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060787 | hypomyelinating leukodystrophy 2 | |
| DOID:0070208 | hereditary lymphedema IC | |
| DOID:0110796 | hereditary spastic paraplegia 44 | |
| DOID:4977 | lymphedema |
