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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LGI1 Gene

protein-coding   GIFtS: 61
GCID: GC10P095507

Leucine-Rich, Glioma Inactivated 1

(Previous names: epilepsy, partial)
(Previous symbol: EPT)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Leucine-Rich, Glioma Inactivated 11 2     ADPEAF2
EPT1 2 3 5     EPITEMPIN2
ETL12 5     IB10992
Epilepsy, Partial1     epitempin-12
ADLTE2     Leucine-Rich Glioma-Inactivated Protein 12
ADPAEF2     Epitempin-13

External Ids:    HGNC: 65721   Entrez Gene: 92112   Ensembl: ENSG000001082317   OMIM: 6046195   UniProtKB: O959703   

Export aliases for LGI1 gene to outside databases

Previous GC identifers: GC10P094410 GC10P094751 GC10P095648 GC10P095182 GC10P089145


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LGI1 Gene:
This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a
hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the
cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is
predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and
significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral
temporal epilepsy. (provided by RefSeq, Jul 2008)

GeneCards Summary for LGI1 Gene: 
LGI1 (leucine-rich, glioma inactivated 1) is a protein-coding gene. Diseases associated with LGI1 include autosomal dominant partial epilepsy with auditory features, and epilepsies, partial. GO annotations related to this gene include protein binding and receptor binding. An important paralog of this gene is LGI3.

UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970
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 mediated by AMPA-type glutamate receptors (By similarity). Plays a role in
suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in
the control of neuroblastoma cell survival

Gene Wiki entry for LGI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LGI1 gene promoter:
         RP58   POU3F1   CUTL1   Gfi-1   Evi-1   E47   Nkx6-1   Hand1   ARP-1   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLGI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LGI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LGI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q24

LGI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LGI1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P095507:  view genomic region     (about GC identifiers)

Start:
95,517,566 bp from pter      End:
95,557,916 bp from pter
Size:
40,351 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970 (See protein sequence)
Recommended Name: Leucine-rich glioma-inactivated protein 1 precursor  
Size: 557 amino acids; 63818 Da
Subunit: Oligomer (By similarity). Interacts with KCNA1 within a complex containing KCNA1, KCNA4 and KCNAB1 (By
similarity). Part of a complex containing ADAM22, DLG4/PSD95 and CACNG2 (stargazin) (By similarity). Can bind to
ADAM11 and ADAM23 (By similarity)
Subcellular location: Secreted. Cell junction, synapse (By similarity). Note=Isoform 1 but not isoform 2 is
secreted. Isoform 1 is enriched in the Golgi apparatus while isoform 2 accumulates in the endoplasmic reticulum
Secondary accessions: A8K0Z1 B4E1S0 Q5W001 Q5W002 Q8NI23 Q96LF5
Alternative splicing: 3 isoforms:  O95970-1   O95970-2   O95970-3   

Explore the universe of human proteins at neXtProt for LGI1: NX_O95970

Explore proteomics data for LGI1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95970

  • LGI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LGI1 Protein Expression
    REFSEQ proteins: NP_005088.1  
    ENSEMBL proteins: 
     ENSP00000360472   ENSP00000360467   ENSP00000440763  

    Human Recombinant Protein Products for LGI1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LGI1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005615extracellular space IDA17067999
    GO:0030054cell junction IEA--
    GO:0045202synapse IEA--

    LGI1 for ontologies           About GeneDecksing



    LGI1 Antibody Products: 
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    Assay Products for LGI1: 
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    Cloud-Clone Corp. CLIAs for LGI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000483 Cys-rich_flank_reg_C
     IPR000372 LRR-contain_N
     IPR009039 EAR
     IPR003591 Leu-rich_rpt_typical-subtyp
     IPR005492 EPTP

    Graphical View of Domain Structure for InterPro Entry O95970

    ProtoNet protein and cluster: O95970

    2 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB000483 Cysteine-rich flanking region


    UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970
    Similarity: Contains 7 EAR repeats
    Similarity: Contains 3 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 LRRNT domain


    LGI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LGI1_HUMAN, O95970
    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 mediated by AMPA-type glutamate receptors (By similarity). Plays a role in
    suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in
    the control of neuroblastoma cell survival
    Induction: Down-regulated in neuroblastoma cells

         Genatlas biochemistry entry for LGI1:
    leucine-rich,glioma inactivated 1,rearranged in glioblastoma cell line t(10;19)(q24;q13),potential adhesion
    protein,expressed in the brain

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102NOT receptor binding IPI--
    GO:0005515protein binding IPI--
         
    LGI1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Lgi1):
     adipose tissue  behavior/neurological  growth/size  integument  mortality/aging 
     nervous system  pigmentation  vision/eye 

    LGI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LGI1: Lgi1tm1.1Jkc Lgi1tm1Mafu Lgi1tm1.1Ics

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LGI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LGI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LGI1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LGI1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidLGI1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LGI1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LGI1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for LGI1 (O959703 ENSP000003604724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAM22Q9P0K13, ENSP000002657274I2D: score=2 STRING: ENSP00000265727
    DLG4P783523I2D: score=2 
    GRIN2BQ132243I2D: score=1 
    YWHABP319463I2D: score=1 
    --ENSP000002938134STRING: ENSP00000293813
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development TAS9879993
    GO:0007411axon guidance IMP--
    GO:0008283cell proliferation TAS9879993
    GO:0030307positive regulation of cell growth IMP--
    GO:0031175neuron projection development IMP--

    LGI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LGI1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LGI1

    2 Novoseek inferred chemical compound relationships for LGI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 18.6 3 18440780 (1)
    sodium 8.36 1 17981785 (1)

    Search CenterWatch for drugs/clinical trials and news about LGI1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LGI1 gene: 
    NM_005097.2  

    Unigene Cluster for LGI1:

    Leucine-rich, glioma inactivated 1
    Hs.533670  [show with all ESTs]
    Unigene Representative Sequence: AB209408
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371418(uc021pwk.1 uc001kjc.4) ENST00000478763 ENST00000371413
    ENST00000485458 ENST00000464250 ENST00000542308(uc010qnv.2 uc009xui.3)


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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate LGI1 (see all 23):
    hsa-miR-30c hsa-miR-3910 hsa-miR-579 hsa-miR-548k hsa-miR-1271 hsa-miR-30d hsa-miR-488 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidLGI1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB209408.1 AF055636.1 AF473548.1 AK289706.1 AK303956.1 AK309416.1 AY358885.1 BC022500.1 

    6 DOTS entries:

    DT.40131478  DT.91666709  DT.311317  DT.40302079  DT.91666707  DT.100670435 

    24/51 AceView cDNA sequences (see all 51):

    CR621328 AI802297 BC022500 AY358885 AI240096 AI918747 CR621199 BQ718988 
    NM_005097 AA296979 BP373601 AL536594 BI603719 BI752989 BF475263 AI989349 
    AA992136 BX508343 AI621238 BM473390 BX451737 AF473548 AA992473 BI550706 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LGI1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8
    SP1:                    -                       -           -               
    SP2:                    -                       -                           
    SP3:                                                                        
    SP4:                                                        -               


    ECgene alternative splicing isoforms for LGI1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LGI1 expression in normal human tissues (normalized intensities)      LGI1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTACAGAAA
    LGI1 Expression
    About this image


    LGI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Eye (Sensory Organs)
             Retina

    See LGI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LGI1

    SOURCE GeneReport for Unigene cluster: Hs.533670

    UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970
    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. Isoform 1 is absent in the
    cerebellum and is detectable in the occipital cortex and hippocampus; higher amounts are observed in the parietal
    and frontal cortices, putamen, and, particularly, in the temporal neocortex, where it is 3.5 times more abundant
    than in the hippocampus (at protein level). Isoform 3 shows the highest expression in the occipital cortex and
    the lowest in the hippocampus (at protein level)

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LGI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for LGI1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lgi11 , 5 leucine-rich repeat LGI family, member 11, 5 91.92(n)1
    96.95(a)1
      19 (32.90 cM)5
    568391  NM_020278.21  NP_064674.11 
     382647825 
    chicken
    (Gallus gallus)
    Aves LGI11 leucine-rich, glioma inactivated 1 82.76(n)
    88.02(a)
      423802  NM_001044655.1  NP_001038120.1 
    lizard
    (Anolis carolinensis)
    Reptilia LGI16
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL343219.1(1735883-1755442)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.184252 Xenopus laevis transcribed sequence with weak similarity more 73.53(n)    BX848288.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb78h122 wufb78h12 71.79(n)   323011  BC056753.1 


    ENSEMBL Gene Tree for LGI1 (if available)
    TreeFam Gene Tree for LGI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LGI1 gene
    LGI32  LGI42  LGI22  
    4 SIMAP similar genes for LGI1 using alignment to 1 protein entry:     LGI1_HUMAN:
    LGI3    LGI2    DKFZp666C182    LGI4

    LGI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/957 SNPs in LGI1 are shown (see all 957)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0585434
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0585432 S R mis40--------
    VAR_0585464
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0585462 L P mis40--------
    VAR_0585484
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0585482 V E mis40--------
    VAR_0585474
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0585472 I T mis40--------
    VAR_0157724
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0157722 C R mis40--------
    VAR_0230094
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0230092 S L mis40--------
    VAR_0585424
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0585422 R W mis40--------
    VAR_0157714
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0157712 L R mis40--------
    VAR_0585404
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0585402 I K mis40--------
    VAR_0585454
    Epilepsy, familial temporal lobe, 1 (ETL1)4--see VAR_0585452 C R mis40--------

    HapMap Linkage Disequilibrium report for LGI1 (95517566 - 95557916 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for LGI1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663672CNV Deletion23128226
    esv3643CNV Deletion18987735
    nsv821312CNV Deletion20802225
    esv2739662CNV Deletion23290073
    nsv511446CNV Loss21212237
    nsv825524CNV Loss20364138
    esv8599CNV Loss19470904
    nsv512177CNV Loss21212237
    nsv825523CNV Loss20364138
    esv24084CNV Gain19812545


    Human Gene Mutation Database (HGMD): LGI1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604619   
    OMIM disorders: 600512  
    UniProtKB/Swiss-Prot: LGI1_HUMAN, O95970
  • Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]: A focal form of epilepsy characterized by
    recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory
    symptoms, most often auditory in nature. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/26 diseases for LGI1 (see all 26):    About MalaCards
    autosomal dominant partial epilepsy with auditory features    epilepsies, partial    malignant glioma    temporal lobe epilepsy
    limbic encephalitis    glioblastoma    choledocholithiasis    extrapulmonary tuberculosis
    status epilepticus    aphasia    focal epilepsy    febrile seizures
    idiopathic generalized epilepsy    chorea    encephalitis    cholangitis
    migraine    oral squamous cell carcinoma    neuroblastoma    neuropathy

    6 diseases from the University of Copenhagen DISEASES database for LGI1:
    Focal epilepsy     Encephalitis     Malignant glioma     Aphasia
    Idiopathic generalized epilepsy     Benign epilepsy with centrotemporal spikes

    LGI1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/14 Novoseek inferred disease relationships for LGI1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adpeaf 99.1 66 15079010 (6), 18440780 (4), 15857855 (3), 17681454 (3) (see all 26)
    epilepsy lateral temporal 98.6 18 18625862 (3), 19268539 (2), 19462817 (2), 17296837 (2) (see all 12)
    epilepsies partial 80.7 24 15079011 (3), 18711109 (2), 12771268 (2), 15816978 (1) (see all 16)
    epilepsy temporal lobe 77.1 16 12023020 (2), 19833108 (2), 15660777 (1), 16504945 (1) (see all 13)
    seizures febrile 72.9 4 14598228 (2), 19853223 (1), 17981785 (1)
    epilepsy 69.7 26 20133599 (3), 15660777 (2), 15827762 (2), 15816978 (1) (see all 20)
    glioma 64.1 32 12821932 (5), 15047712 (4), 14598228 (2), 19835947 (2) (see all 18)
    epilepsy generalized 62.7 2 15079011 (1), 17981785 (1)
    epilepsy, idiopathic generalized 60.4 1 15079011 (1)
    malignant glioma 50.5 8 11907806 (1), 15827762 (1), 12821932 (1), 10920229 (1)

    GeneTests: LGI1
    GeneReviews: LGI1
    Genetic Association Database (GAD): LGI1
    Human Genome Epidemiology (HuGE) Navigator: LGI1 (4 documents)

    Export disorders for LGI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LGI1 gene, integrated from 9 sources (see all 98):
    (articles sorted by number of sources associating them with LGI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. (PubMed id 9879993)1, 2, 3, 9 Chernova O.B.... Cowell J.K. (1998)
    2. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. (PubMed id 11978770)1, 2, 3, 9 Morante-Redolat J.M....Lopez de Munain A. (2002)
    3. LGI1 mutations in temporal lobe epilepsies. (PubMed id 15079010)1, 2, 9 Berkovic S.F.... Mulley J.C. (2004)
    4. Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. (PubMed id 16518856)1, 2, 9 Gabellini N.... Palu G. (2006)
    5. LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway. (PubMed id 15047712)1, 2, 9 Kunapuli P.... Cowell J.K. (2004)
    6. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. (PubMed id 15079011)1, 3, 9 Ottman R....Hauser W.A. (2004)
    7. A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. (PubMed id 18625862)1, 2, 9 Striano P....Nobile C. (2008)
    8. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. (PubMed id 17296837)1, 2, 9 Chabrol E....Baulac S. (2007)
    9. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. (PubMed id 19191227)1, 2, 9 Nobile C....Striano P. (2009)
    10. Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. (PubMed id 18355961)1, 4, 9 Bovo G....Nobile C. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9211 HGNC: 6572 AceView: LGI1 Ensembl:ENSG00000108231 euGenes: HUgn9211
    ECgene: LGI1 H-InvDB: LGI1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LGI1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LGI1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LGI1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LGI1 gene:
    Search GeneIP for patents involving LGI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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