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LGI4 leucine rich repeat LGI family member 4 [ Homo sapiens (human) ]

Gene ID: 163175, updated on 3-Apr-2024

Summary

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Official Symbol
LGI4provided by HGNC
Official Full Name
leucine rich repeat LGI family member 4provided by HGNC
Primary source
HGNC:HGNC:18712
See related
Ensembl:ENSG00000153902 MIM:608303; AllianceGenome:HGNC:18712
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AMC1; LGIL3; AMCNMY
Summary
Involved in regulation of myelination. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in arthrogryposis multiplex congenita-1 and childhood absence epilepsy. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in fat (RPKM 15.0), brain (RPKM 9.1) and 21 other tissues See more
Orthologs
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Genomic context

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See LGI4 in Genome Data Viewer
Location:
19q13.12; 19q13.11
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35124513..35135059, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37669192..37679738, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35615417..35625963, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene HPN antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35581426-35581963 Neighboring gene hepatitis A virus cellular receptor 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35600165-35600765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35613161-35614050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35614051-35614938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14456 Neighboring gene FXYD domain containing ion transport regulator 3 Neighboring gene microRNA 6887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35632134-35632696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35633820-35634380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35634381-35634942 Neighboring gene FXYD domain containing ion transport regulator 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35642007-35642406 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:35643105-35643656 Neighboring gene FXYD domain containing ion transport regulator 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35644606-35645470

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations. Booth DG, et al. Glia, 2021 Nov. PMID 34288120
  2. Positive association between benign familial infantile convulsions and LGI4. Ishii A, et al. Brain Dev, 2010 Aug. PMID 19815358
  3. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. Xue S, et al. Am J Hum Genet, 2017 Apr 6. PMID 28318499, Free PMC Article
  4. Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals. Costa ET, et al. Oncogene, 2015 Mar 5. PMID 24662834
  5. Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. Gu W, et al. Neurogenetics, 2004 Feb. PMID 14505228

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.
    Title: Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.
  2. in four unrelated multiplex families presenting with severe arthrogryposis multiplex congenital, identified biallelic loss-of-function mutations in LGI4; functional tests showed these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell-based assay impaired the secretion of truncated LGI4 protein
    Title: Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
  3. Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals.
    Title: Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals.
  4. The positive genotypic association between benign familial infantile convulsions (BFIC)and c.1722G/A polymorphism suggests that LGI4 might contribute to the susceptibility to BFIC.
    Title: Positive association between benign familial infantile convulsions and LGI4.
  5. Schwann cells are the principal cellular source of Lgi4 in the developing nerve; transgenic Lgi4 binds directly to Adam22 without a requirement for additional membrane associated factors.
    Title: Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Positive association between benign familial infantile convulsions and LGI4.
  7. Screening of the LGI4 coding region in BFIC and childhood absence epilepsy (CAE) revealed several frequent exonic polymorphisms.
    Title: Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.
  8. has seven copies of the EPTP repeat, a unifying protein sequence motif of a heterogenous group of proteins linked to epileptic diseases. The EPTP repeat probably forms a beta-propeller structure.
    Title: The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
MedGen: C4479539 OMIM: 617468 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in glial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in myelination in peripheral nervous system IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of myelination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
leucine-rich repeat LGI family member 4
Names
LGI1-like protein 3
leucine-rich glioma-inactivated gene 4
leucine-rich glioma-inactivated protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_139284.3 → NP_644813.1  leucine-rich repeat LGI family member 4 precursor

    See identical proteins and their annotated locations for NP_644813.1

    Status: VALIDATED

    Source sequence(s)
    AJ487519, AJ487959, BC140008, BU740724
    Consensus CDS
    CCDS12444.1
    UniProtKB/Swiss-Prot
    B2RN53, B9EGS7, Q5M8T1, Q8N135
    Related
    ENSP00000312273.3, ENST00000310123.8
    Conserved Domains (5) summary
    TIGR00864
    Location:131 → 206
    PCC; polycystin cation channel protein
    sd00031
    Location:54 → 77
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:167 → 205
    LRR_RI; leucine-rich repeat [structural motif]
    pfam03736
    Location:396 → 438
    EPTP; EPTP domain
    pfam13855
    Location:76 → 136
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    35124513..35135059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026428.1 → XP_016881917.1  leucine-rich repeat LGI family member 4 isoform X1

    UniProtKB/TrEMBL
    Q658V8
    Related
    ENST00000493050.5
    Conserved Domains (1) summary
    pfam03736
    Location:224 → 266
    EPTP; EPTP domain

  2. XM_017026429.1 → XP_016881918.1  leucine-rich repeat LGI family member 4 isoform X1

    UniProtKB/TrEMBL
    Q658V8
    Conserved Domains (1) summary
    pfam03736
    Location:224 → 266
    EPTP; EPTP domain

  3. XM_047438343.1 → XP_047294299.1  leucine-rich repeat LGI family member 4 isoform X1

  4. XM_017026430.2 → XP_016881919.1  leucine-rich repeat LGI family member 4 isoform X1

    UniProtKB/TrEMBL
    Q658V8
    Conserved Domains (1) summary
    pfam03736
    Location:224 → 266
    EPTP; EPTP domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    37669192..37679738 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320081.1 → XP_054176056.1  leucine-rich repeat LGI family member 4 isoform X1

  2. XM_054320083.1 → XP_054176058.1  leucine-rich repeat LGI family member 4 isoform X1

  3. XM_054320082.1 → XP_054176057.1  leucine-rich repeat LGI family member 4 isoform X1

  4. XM_054320084.1 → XP_054176059.1  leucine-rich repeat LGI family member 4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N135.1 GenPept UniProtKB/Swiss-Prot:Q8N135

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