Gene Gene information from NCBI Gene database.
Entrez ID 9211
Gene name Leucine rich glioma inactivated 1
Gene symbol LGI1
Synonyms (NCBI Gene)
ADLTEADPAEFADPEAFEPITEMPINEPTETL1IB1099
Chromosome 10
Chromosome location 10q23.33
Summary This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs28937874 A>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, intron variant
rs28939075 T>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, intron variant
rs104894167 T>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs146425212 A>C,G Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs148862146 C>T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, non coding transcript variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
27
miRTarBase ID miRNA Experiments Reference
MIRT1108339 hsa-miR-1269 CLIP-seq
MIRT1108340 hsa-miR-1269b CLIP-seq
MIRT1108341 hsa-miR-1288 CLIP-seq
MIRT1108342 hsa-miR-3654 CLIP-seq
MIRT1108343 hsa-miR-378 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IPI 20463223
GO:0005102 Function Signaling receptor binding IPI 20463223
GO:0005515 Function Protein binding IPI 20463223, 27066583
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604619 6572 ENSG00000108231
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95970
Protein name Leucine-rich glioma-inactivated protein 1 (Epitempin-1)
Protein function Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission
PDB 5Y2Z , 5Y30 , 5Y31 , 8HPY , 8HQ1 , 8HQ2 , 8Y6B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 69 127 Leucine rich repeat Repeat
PF13855 LRR_8 115 175 Leucine rich repeat Repeat
PF03736 EPTP 225 266 EPTP domain Repeat
PF03736 EPTP 271 312 EPTP domain Repeat
PF03736 EPTP 317 363 EPTP domain Repeat
PF03736 EPTP 366 414 EPTP domain Repeat
PF03736 EPTP 419 461 EPTP domain Repeat
PF03736 EPTP 464 505 EPTP domain Repeat
PF03736 EPTP 510 550 EPTP domain Repeat
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas. {ECO:0000269|PubMed:16518856}.; TISSUE SPECIFICITY: [Isoform 1]:
Sequence
Sequence length 557
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.).
16
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant epilepsy with auditory features Likely pathogenic; Pathogenic rs2134020777, rs2133975489, rs2134017952, rs2134021516, rs2134026513, rs2134026684, rs1027289865, rs2134017940, rs2134027169, rs104894166, rs119488099, rs797044999, rs797044998, rs2492919720, rs2059988348
View all (13 more)
RCV002242881
RCV002242924
RCV002242806
RCV002242849
RCV002242923
View all (23 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, familial temporal lobe, 1 Likely pathogenic; Pathogenic rs2059593242, rs1027289865, rs2134026964, rs2134026453, rs869025201, rs28937874, rs2134020917, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs797044999
View all (7 more)
RCV001330013
RCV003228039
RCV002077370
RCV002244147
RCV000207482
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genitopatellar syndrome Pathogenic rs2134026964 RCV002077370
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LGI1-related disorder Likely pathogenic; Pathogenic rs119488099, rs2492904557 RCV003407283
RCV003403044
★★★★☆
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
Autosomal dominant epilepsy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATERAL TEMPORAL LOBE EPILEPSY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bilateral tonic-clonic seizure Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
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
Acquired Neuromyotonia Acquired Neuromyotonia BEFREE 30724344
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 27717669, 31432233
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 19064878 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 12942323
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 23651915
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 23713523, 29195105, 30076629, 30112956, 31142216, 31352183
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases of the Nervous System Autoimmune nervous system disorder Pubtator 36621173, 37217310 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant epilepsy with auditory features Epilepsy With Auditory Features Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Dominant Lateral Temporal Lobe Epilepsy Temporal lobe epilepsy BEFREE 11810107, 12095917, 12601709, 12771268, 14643004, 15021241, 15079010, 15079011, 15090473, 15660777, 15827762, 15946341, 16190946, 16518856, 16707245
View all (24 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral temporal lobe epilepsy Pubtator 12023020, 12446220, 15079011, 15660777, 15946341, 16707245, 18711109, 19064878, 19780791, 22323750, 24177143 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations