• Gene id: 163175

Gene Summary

• Gene Symbol: LGI4   Gene   UCSC   Ensembl
• Aliases: AMCNMY, LGIL3
• Gene name: leucine rich repeat LGI family member 4
• Alternate names: leucine-rich repeat LGI family member 4, LGI1-like protein 3, leucine-rich glioma-inactivated gene 4, leucine-rich glioma-inactivated protein 4,
• Gene location: 19q13.11 (35135058: 35124512)     Exons: 11     NC_000019.10
• OMIM: 611813

Protein Summary

• Protein general information: Q8N135  
  • Name: Leucine rich repeat LGI family member 4 (LGI1 like protein 3) (Leucine rich glioma inactivated protein 4)
  • Length: 537  
  • Mass: 59141
  • Tissue specificity: Widely expressed, with highest expression in brain. {ECO
• Sequence:

  MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLVRTGVTQLKAGSFLRI
  PSLHLLLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNALRGLRSLTHLSLANNHLETLPRFLFRGLDTL
  THVDLRGNPFQCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVE
  PFSYQGEPHIVLAQPFAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPG
  LRLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGR
  PHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPS
  RGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPT
  QIYQHHEIDLSA

• Structural information:
  • Protein Domains: (158..20-)
    (/note="LRRCT"-)
  • Interpro: IPR000483  IPR009039  IPR005492  IPR001611  IPR003591   IPR032675  
  • Prosite: PS50912 PS51450
  • STRING: ENSP00000312273
• Other Databases: GeneCards:  LGI4  Malacards:  LGI4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031641	regulation of myelination	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0042552	myelination	IEA	biological process
GO:0042551	neuron maturation	IEA	biological process
GO:0021782	glial cell development	IEA	biological process
GO:0014044	Schwann cell development	IEA	biological process
GO:0014009	glial cell proliferation	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0042063	gliogenesis	IEA	biological process
GO:0031641	regulation of myelination	IEA	biological process
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Arthrogryposis multiplex congenita, neurogenic, with myelin defect	KEGG:H02358
Arthrogryposis multiplex congenita, neurogenic, with myelin defect	KEGG:H02358
Childhood absence epilepsy	PMID:14505228
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq