Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol LGI4 contributors: mct/npt - updated : 10-05-2017
HGNC name leucine-rich repeat LGI family, member 4
HGNC id 18712
Corresponding disease
LCCS12 lethal congenital contracture syndrome 12
Location 19q13.11      Physical location : 35.615.416 - 35.626.178
Synonym name
  • LGI1-like protein 3
  • leucine-rich glioma-inactivated protein 4
  • Synonym symbol(s) LGIL3
    DNA
    TYPE functioning gene
    STRUCTURE 10.76 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC390921 19 similar to Major allergen I polypeptide chain 1 major form precursor (Allergen Fel d 1-A) (Fel d I-A) (Allergen Cat-1) (Fel dI) (AG4) ZNF181 19q13.1-q13.3 zinc finger protein 181 (HHZ181) FLJ30663 19q13.13 hypothetical protein FLJ30663 LOC390922 19 similar to FLJ38451 protein LOC390923 19 similar to zinc finger protein 113 LOC342885 19q13.13 similar to ABO histo-blood group B transferase DKFZp686N19164 FLJ38451 19q13.13 FLJ38451 protein KIAA1533 19q13.13 KIAA1533 SCN1B 19q13.1 sodium channel, voltage-gated, type I, beta HPN 19q13.1 hepsin (transmembrane protease, serine 1) LOC339320 19q13.13 similar to tectorin alpha precursor; Tectorin, alpha FXYD3 19q13.13 FXYD domain containing ion transport regulator 3 LGI4 19q13.12 leucine-rich repeat LGI family, member 4 FXYD1 19q13.1 FXYD domain containing ion transport regulator 1 (phospholemman) FXYD7 19q13.13 FXYD domain containing ion transport regulator 7 FXYD5 19q12-q13.1 FXYD domain containing ion transport regulator 5 FLJ25660 19q13.13 hypothetical protein FLJ25660 LISCH7 19q13.13 LISCH protein USF2 19q13.1 upstream transcription factor 2, c-fos interacting HAMP 19q13.1 hepcidin antimicrobial peptide MAG 19q13.1 myelin associated glycoprotein FLJ22814 19q13.13 hypothetical protein FLJ22814 CD22 19q13.1 CD22 antigen GPR40 19q13.1 G protein-coupled receptor 40 GPR41 19q13.1 G protein-coupled receptor 41 GPR42 19q13.1 G protein-coupled receptor 42 LOC390924 19 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) GPR43 19q13.1 G protein-coupled receptor 43 LOC388533 19 similar to KIPV467 ZD52F10 19q13.13 hypothetical gene ZD52F10 UNQ698 19q13.13 HLAR698 GAPDS 19q13.1 glyceraldehyde-3-phosphate dehydrogenase, testis-specific NIFIE14 19q13.1 seven transmembrane domain protein ATP4A 19q13.1 ATPase, H+/K+ exchanging, alpha polypeptide
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2906 - 537 - 2010 20220021
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Nervousbrain    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchawnn cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four EAR repeats (epilepsy-associated repeat domain)
  • four LRR (leucine-rich) repeats
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to Drsophila CG11989
    homolog to C.elegans K07H8.3
    Homologene
    FAMILY
  • leucine-rich repeat LGI family
  • CATEGORY secretory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • component of Schwann cell signaling pathway that controls axon segregation and myelin formation (Bermingham 2006)
  • regulated the functional maturation and structural pruning of glutamatergic synapses during postnatal development, and in postnatal developmental myelination of peripheral nerves (Zhou 2009)
  • novel functions for LGI4 regulating the proliferation and maturation of glial lineage cells throughout the PNS
  • is required for proliferation of glia in the peripheral nervous system and binds to a neuronal receptor, ADAM22, to foster ensheathment and myelination of axons by Schwann cells
  • identified as a new component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation
  • secreted protein that is required for Schwann cell development and differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds ADAM11, ADAM22, ADAM23 (LGI-ADAM system seems to be regulated not only by the affinity but also by the cell-type-specific expression of each protein)(Sagane 2008)
  • bind to the cell surface receptor ADAM22, which is expressed by neurons
  • is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS12
    Susceptibility
  • to benign familial infantile convulsions (BFIC) and idiopathic generalized epilepsy
  • Variant & Polymorphism other
  • c.1914GC --> AT polymorphism, associated to benign familial infantile convulsions (BFIC) and idiopathic generalized epilepsy (Gu 2004)
  • c.1722G/A polymorphism might contribute to the susceptibility to BFIC
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyleukoencephalopathy 
    may be regarded as a novel therapeutic target to stimulate myelination
    ANIMAL & CELL MODELS
  • Lgi4-deficient mice exhibited a more severe phenotype than claw paw mice and had gliogenic defects in sensory, sympathetic, and enteric ganglia