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

Summary

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, Nov 2024]
Expression: Broad expression in fat (RPKM 15.0), brain (RPKM 9.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12; 19q13.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35124513..35135059, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (37669192..37679738, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (35615417..35625963, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Positive association between benign familial infantile convulsions and LGI4.
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.
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.

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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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20326 (e-PCR)
- UniSTS:10015

A005M08 (e-PCR)
- UniSTS:10016

STS-N52877 (e-PCR)
- UniSTS:70190

RH11600 (e-PCR)
- UniSTS:36155

SGC33373 (e-PCR)
- UniSTS:77129

RH79072 (e-PCR)
- UniSTS:51400

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

35124513..35135059 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060943.1 Alternate T2T-CHM13v2.0

Range

37669192..37679738 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320081.1 → XP_054176056.1 leucine-rich repeat LGI family member 4 isoform X1
XM_054320083.1 → XP_054176058.1 leucine-rich repeat LGI family member 4 isoform X1
XM_054320082.1 → XP_054176057.1 leucine-rich repeat LGI family member 4 isoform X1
XM_054320084.1 → XP_054176059.1 leucine-rich repeat LGI family member 4 isoform X1