Free for academic non-profit institutions. Other users need a Commercial license
LGI3 (Leucine Rich Repeat LGI Family Member 3) is a Protein Coding gene. Diseases associated with LGI3 include Epilepsy, Familial Temporal Lobe, 3 and Epilepsy, Familial Temporal Lobe, 1. Among its related pathways are Developmental Biology and LGI-ADAM interactions. An important paralog of this gene is LGI1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0008021 | synaptic vesicle | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO:0031410 | cytoplasmic vesicle | IEA | -- |
GO:0043005 | neuron projection | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology | ||
2 | LGI-ADAM interactions |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006887 | exocytosis | IEA | -- |
GO:0017157 | regulation of exocytosis | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LGI3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LGI3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LGI3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lgi3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lgi3 30 |
|
||
Cow (Bos Taurus) |
Mammalia | LGI3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LGI3 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | lgi3 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs149352514 | Benign: not provided | 22,148,657(-) |
C/T NM_139278.4(LGI3):c.1150G>A (p.Gly384Ser) |
MISSENSE | |
rs772786699 | Likely Benign: not provided | 22,156,508(-) |
G/A NM_139278.4(LGI3):c.35C>T (p.Pro12Leu) |
MISSENSE | |
rs34112456 | - |
p.Ala524Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12054n54 | CNV | loss | 21841781 |
dgv12055n54 | CNV | loss | 21841781 |
dgv2060e212 | CNV | loss | 25503493 |
dgv881n27 | CNV | loss | 19166990 |
esv2759604 | CNV | loss | 17122850 |
esv3572630 | CNV | loss | 25503493 |
nsv465613 | CNV | loss | 19166990 |
nsv470204 | CNV | loss | 18288195 |
nsv524720 | CNV | loss | 19592680 |
nsv527293 | CNV | loss | 19592680 |
nsv528590 | CNV | loss | 19592680 |
nsv610765 | CNV | loss | 21841781 |
nsv610771 | CNV | loss | 21841781 |
nsv831263 | CNV | loss | 17160897 |
nsv831264 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, familial temporal lobe, 3 |
|
|
epilepsy, familial temporal lobe, 1 |
|
|
li-fraumeni syndrome 1 |
|
|
benign familial infantile epilepsy |
|
|