Aliases for LGI4 Gene

Aliases for LGI4 Gene

  • Leucine Rich Repeat LGI Family Member 4 2 3 5
  • Leucine-Rich Glioma-Inactivated Protein 4 3 4
  • Leucine-Rich Repeat LGI Family Member 4 3 4
  • LGI1-Like Protein 3 3 4
  • LGIL3 3 4
  • Leucine-Rich Repeat LGI Family, Member 4 2
  • Leucine-Rich Glioma-Inactivated Gene 4 3
  • AMCNMY 3

External Ids for LGI4 Gene

Previous GeneCards Identifiers for LGI4 Gene

  • GC19M036232
  • GC19M036064
  • GC19M040291
  • GC19M040307
  • GC19M035616
  • GC19M032123
  • GC19M035728
  • GC19M036262
  • GC19M036538
  • GC19M037056

Summaries for LGI4 Gene

GeneCards Summary for LGI4 Gene

LGI4 (Leucine Rich Repeat LGI Family Member 4) is a Protein Coding gene. Diseases associated with LGI4 include Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect and Arthrogryposis Multiplex Congenita, Neurogenic Type. Among its related pathways are LGI-ADAM interactions and Developmental Biology. An important paralog of this gene is LGI1.

UniProtKB/Swiss-Prot Summary for LGI4 Gene

  • Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).

Additional gene information for LGI4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LGI4 Gene

Genomics for LGI4 Gene

GeneHancer (GH) Regulatory Elements for LGI4 Gene

Promoters and enhancers for LGI4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LGI4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LGI4

Top Transcription factor binding sites by QIAGEN in the LGI4 gene promoter:
  • AML1a

Genomic Locations for LGI4 Gene

Genomic Locations for LGI4 Gene
chr19:35,124,513-35,142,451
(GRCh38/hg38)
Size:
17,939 bases
Orientation:
Minus strand
chr19:35,615,417-35,633,355
(GRCh37/hg19)
Size:
17,939 bases
Orientation:
Minus strand

Genomic View for LGI4 Gene

Genes around LGI4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LGI4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LGI4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LGI4 Gene

Proteins for LGI4 Gene

  • Protein details for LGI4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N135-LGI4_HUMAN
    Recommended name:
    Leucine-rich repeat LGI family member 4
    Protein Accession:
    Q8N135
    Secondary Accessions:
    • B2RN53
    • B9EGS7
    • Q5M8T1

    Protein attributes for LGI4 Gene

    Size:
    537 amino acids
    Molecular mass:
    59141 Da
    Quaternary structure:
    • Can bind to ADAM11, ADAM22 and ADAM23.

    Alternative splice isoforms for LGI4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LGI4 Gene

Post-translational modifications for LGI4 Gene

  • Glycosylation at Asn177
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LGI4 Gene

Domains & Families for LGI4 Gene

Gene Families for LGI4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LGI4 Gene

Blocks:
  • Cysteine-rich flanking region, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LGI4 Gene

GenScript: Design optimal peptide antigens:
  • LGI4 protein (A5D6Y5_HUMAN)
  • Leucine-rich glioma-inactivated protein 4 (LGI4_HUMAN)
genes like me logo Genes that share domains with LGI4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LGI4 Gene

Function for LGI4 Gene

Molecular function for LGI4 Gene

UniProtKB/Swiss-Prot Function:
Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).

Phenotypes From GWAS Catalog for LGI4 Gene

genes like me logo Genes that share phenotypes with LGI4: view

Human Phenotype Ontology for LGI4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LGI4 Gene

MGI Knock Outs for LGI4:
  • Lgi4 Lgi4<tm1Sjm>
  • Lgi4 Lgi4<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for LGI4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for LGI4 Gene

Localization for LGI4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LGI4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LGI4 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
nucleus 1
peroxisome 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LGI4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with LGI4: view

Pathways & Interactions for LGI4 Gene

PathCards logo

SuperPathways for LGI4 Gene

genes like me logo Genes that share pathways with LGI4: view

Pathways by source for LGI4 Gene

2 Reactome pathways for LGI4 Gene

Gene Ontology (GO) - Biological Process for LGI4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008344 adult locomotory behavior IEA --
GO:0014009 glial cell proliferation IEA --
GO:0014044 Schwann cell development IEA --
GO:0021782 glial cell development IEA --
GO:0022011 myelination in peripheral nervous system IEA --
genes like me logo Genes that share ontologies with LGI4: view

No data available for SIGNOR curated interactions for LGI4 Gene

Drugs & Compounds for LGI4 Gene

No Compound Related Data Available

Transcripts for LGI4 Gene

mRNA/cDNA for LGI4 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LGI4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5:

Relevant External Links for LGI4 Gene

GeneLoc Exon Structure for
LGI4

Expression for LGI4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LGI4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LGI4 Gene

This gene is overexpressed in Nerve - Tibial (x9.9).

Protein differential expression in normal tissues from HIPED for LGI4 Gene

This gene is overexpressed in Frontal cortex (33.0), Spinal cord (23.3), Peripheral blood mononuclear cells (6.5), and Adipocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LGI4 Gene



Protein tissue co-expression partners for LGI4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LGI4

SOURCE GeneReport for Unigene cluster for LGI4 Gene:

Hs.65256

mRNA Expression by UniProt/SwissProt for LGI4 Gene:

Q8N135-LGI4_HUMAN
Tissue specificity: Widely expressed, with highest expression in brain.

Evidence on tissue expression from TISSUES for LGI4 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with LGI4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LGI4 Gene

Orthologs for LGI4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LGI4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LGI4 31 30
  • 96.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LGI4 31 30
  • 91.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LGI4 31 30
  • 89.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lgi4 30
  • 84.04 (n)
mouse
(Mus musculus)
Mammalia Lgi4 17 31 30
  • 83.59 (n)
oppossum
(Monodelphis domestica)
Mammalia LGI4 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LGI4 31
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LGI4 31
  • 51 (a)
OneToOne
Species where no ortholog for LGI4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LGI4 Gene

ENSEMBL:
Gene Tree for LGI4 (if available)
TreeFam:
Gene Tree for LGI4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LGI4: view image

Paralogs for LGI4 Gene

(4) SIMAP similar genes for LGI4 Gene using alignment to 4 proteins:

  • LGI4_HUMAN
  • A5D6Y5_HUMAN
  • A8MVC2_HUMAN
  • K7ENQ0_HUMAN
genes like me logo Genes that share paralogs with LGI4: view

Variants for LGI4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LGI4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
667026 Uncertain Significance: not specified 35,126,777(-) T/C SPLICE_ACCEPTOR_VARIANT
692277 Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita 35,131,510(-) C/G MISSENSE_VARIANT
692278 Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita 35,126,538(-) A/T MISSENSE_VARIANT
713540 Likely Benign: not provided 35,126,920(-) G/A SYNONYMOUS_VARIANT
717495 Likely Benign: not provided 35,126,283(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LGI4 Gene

Structural Variations from Database of Genomic Variants (DGV) for LGI4 Gene

Variant ID Type Subtype PubMed ID
esv993226 CNV loss 20482838
nsv953282 CNV deletion 24416366

Variation tolerance for LGI4 Gene

Gene Damage Index Score: 3.40; 54.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LGI4 Gene

Human Gene Mutation Database (HGMD)
LGI4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LGI4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LGI4 Gene

Disorders for LGI4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for LGI4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

LGI4_HUMAN
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) [MIM:617468]: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMCNMY is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect. {ECO:0000269 PubMed:28318499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LGI4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LGI4: view

No data available for Genatlas for LGI4 Gene

Publications for LGI4 Gene

  1. The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. (PMID: 12023020) Gu W … Steinlein OK (FEBS letters 2002) 2 3 4 23 54
  2. Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. (PMID: 14505228) Gu W … Steinlein OK (Neurogenetics 2004) 3 23 41 54
  3. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. (PMID: 28318499) Xue S … Melki J (American journal of human genetics 2017) 3 4 54
  4. Positive association between benign familial infantile convulsions and LGI4. (PMID: 19815358) Ishii A … Hirose S (Brain & development 2010) 3 41 54
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54

Products for LGI4 Gene

Sources for LGI4 Gene