Gene Gene information from NCBI Gene database.
Entrez ID 55203
Gene name Leucine rich repeat LGI family member 2
Gene symbol LGI2
Synonyms (NCBI Gene)
LGIL2
Chromosome 4
Chromosome location 4p15.2
miRNA miRNA information provided by mirtarbase database.
205
miRTarBase ID miRNA Experiments Reference
MIRT045542 hsa-miR-149-5p CLASH 23622248
MIRT1108359 hsa-miR-101 CLIP-seq
MIRT1108360 hsa-miR-1197 CLIP-seq
MIRT739686 hsa-miR-1200 CLIP-seq
MIRT1108361 hsa-miR-122 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:1904862 Process Inhibitory synapse assembly IBA
GO:1904862 Process Inhibitory synapse assembly IEA
GO:1904862 Process Inhibitory synapse assembly ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608301 18710 ENSG00000153012
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N0V4
Protein name Leucine-rich repeat LGI family member 2 (LGI1-like protein 2) (Leucine-rich glioma-inactivated protein 2)
Protein function Required for the development of soma-targeting inhibitory GABAergic synapses made by parvalbumin-positive basket cells.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 62 121 Leucine rich repeat Repeat
PF13855 LRR_8 110 169 Leucine rich repeat Repeat
PF03736 EPTP 219 260 EPTP domain Repeat
PF03736 EPTP 265 306 EPTP domain Repeat
PF03736 EPTP 311 357 EPTP domain Repeat
PF03736 EPTP 360 402 EPTP domain Repeat
PF03736 EPTP 407 449 EPTP domain Repeat
PF03736 EPTP 452 493 EPTP domain Repeat
Tissue specificity TISSUE SPECIFICITY: Brain, heart and placenta. {ECO:0000269|PubMed:12023020}.
Sequence
MALRRGGCGALGLLLLLLGAACLIPRSAQVRRLARCPATCSCTKESIICVGSSWVPRIVP
GDISSLSLVNGTFSEIKDRMFSHLPSLQLLLLNSNSFTIIRDDAFAGLFHLEYLFIEGNK
I
ETISRNAFRGLRDLTHLSLANNHIKALPRDVFSDLDSLIELDLRGNKF
ECDCKAKWLYL
WLKMTNSTVSDVLCIGPPEYQEKKLNDVTSFDYECTTTDFVVHQTLPYQSVSVDTFNSKN
DVYVAIAQPSMENCMVLEWD
HIEMNFRSYDNITGQSIVGCKAILIDDQVFVVVAQLFGGS
HIYKYD
ESWTKFVKFQDIEVSRISKPNDIELFQIDDETFFVIADSSKAGLSTVYKWNSKG
FYSYQSLHEWFRDTDAEFVDIDGKSHLILSSRSQVPIILQWN
KSSKKFVPHGDIPNMEDV
LAVKSFRMQNTLYLSLTRFIGDSRVMRWN
SKQFVEIQALPSRGAMTLQPFSFKDNHYLAL
GSDYTFSQIYQWD
KEKQLFKKFKEIYVQAPRSFTAVSTDRRDFFFASSFKGKTKIFEHII
VDLSL
Sequence length 545
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    LGI-ADAM interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 12023020 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35800238 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsies Partial Partial epilepsy Pubtator 20863412 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsies, Partial Epilepsy BEFREE 20863412, 21829378
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 20863412, 21829378, 22037590, 26032921
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 20863412 Associate
★☆☆☆☆
Found in Text Mining only