LGI3 (leucine rich repeat LGI family member 3)

Gene

• Entrez ID: 203190
• Gene name: Leucine rich repeat LGI family member 3
• Gene symbol: LGI3
• Synonyms (NCBI Gene): IDDMDS, LGIL4
• Chromosome: 8
• Chromosome location: 8p21.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT496902	hsa-miR-651-3p	PAR-CLIP	22291592
MIRT496901	hsa-miR-4428	PAR-CLIP	22291592
MIRT496900	hsa-miR-4496	PAR-CLIP	22291592
MIRT496899	hsa-miR-8060	PAR-CLIP	22291592
MIRT496898	hsa-miR-1252-5p	PAR-CLIP	22291592
MIRT496902	hsa-miR-651-3p	PAR-CLIP	22291592
MIRT496901	hsa-miR-4428	PAR-CLIP	22291592
MIRT496900	hsa-miR-4496	PAR-CLIP	22291592
MIRT496899	hsa-miR-8060	PAR-CLIP	22291592
MIRT496898	hsa-miR-1252-5p	PAR-CLIP	22291592
MIRT2029960	hsa-miR-320e	CLIP-seq
MIRT2029961	hsa-miR-361-5p	CLIP-seq
MIRT2029962	hsa-miR-4277	CLIP-seq
MIRT2029963	hsa-miR-4793-5p	CLIP-seq
MIRT2029964	hsa-miR-486-3p	CLIP-seq
MIRT2260855	hsa-miR-1224-3p	CLIP-seq
MIRT2260856	hsa-miR-1260	CLIP-seq
MIRT2260857	hsa-miR-1260b	CLIP-seq
MIRT2260858	hsa-miR-1280	CLIP-seq
MIRT2260859	hsa-miR-296-5p	CLIP-seq
MIRT2260860	hsa-miR-3065-3p	CLIP-seq
MIRT2260861	hsa-miR-4733-3p	CLIP-seq
MIRT2260862	hsa-miR-4749-3p	CLIP-seq
MIRT2260863	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	35948005
GO:0006887	Process	Exocytosis	IEA
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0017157	Process	Regulation of exocytosis	IBA
GO:0017157	Process	Regulation of exocytosis	IEA
GO:0030424	Component	Axon	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045202	Component	Synapse	IEA

Other IDs

• MIM: 608302
• HGNC: 18711
• e!Ensembl: ENSG00000168481

Protein

• UniProt ID: Q8N145
• Protein name: Leucine-rich repeat LGI family member 3 (LGI1-like protein 4) (Leucine-rich glioma-inactivated protein 3)
• Protein function: May participate in the regulation of neuronal exocytosis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	64 → 124	Leucine rich repeat	Repeat
  PF13855	LRR_8	113 → 172	Leucine rich repeat	Repeat
  PF03736	EPTP	222 → 263	EPTP domain	Repeat
  PF03736	EPTP	268 → 309	EPTP domain	Repeat
  PF03736	EPTP	314 → 360	EPTP domain	Repeat
  PF03736	EPTP	363 → 405	EPTP domain	Repeat
  PF03736	EPTP	410 → 452	EPTP domain	Repeat
  PF03736	EPTP	455 → 496	EPTP domain	Repeat
  PF03736	EPTP	501 → 541	EPTP domain	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in brain and lung. {ECO:0000269|PubMed:12023020}.
• Sequence:

  MAGLRARGGPGPGLLALSALGFCLMLQVSAKRPPKTPPCPPSCSCTRDTAFCVDSKAVPR
  NLPSEVISLTLVNAAFSEIQDGAFSHLPLLQFLLLNSNKFTLIGDNAFTGLSHLQYLFIE
  NNDIWALSKFTFRGLKSLTHLSLANNNLQTLPRDIFRPLDILNDLDLRGNSLNCDCKVKW
  LVEWLAHTNTTVAPIYCASPPRFQEHKVQDLPLREFDCITTDFVLYQTLAFPAVSAEPFL
  YSSDLYLALAQPGVSACTILKWDYVERQLRDYDRIPAPSAVHCKPMVVDSQLYVVVAQLF
  GGSYIYHWDPNTTRFTRLQDIDPQRVRKPNDLEAFRIDGDWYFAVADSSKAGATSLYRWH
  QNGFYSHQALHPWHRDTDLEFVDGEGKPRLIVSSSSQAPVIYQWSRTQKQFVAQGEVTQV
  PDAQAVKHFRAGRDSYLCLSRYIGDSKILRWEGTRFSEVQALPSRGSLALQPFLVGGRRY
  LALGSDFSFTQIYQWDEGRQKFVRFQELAVQAPRAFCYMPAGDAQLLLAPSFKGQTLVYR
  HIVVDLSA

• Sequence length: 548

Pathways

Reactome:

LGI-ADAM interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	Pathogenic	rs1827450545, rs769376680, rs1050199719, rs2131791254, rs2131791567	RCV002279778 RCV002279779 RCV002279780 RCV002279781 RCV002279782	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral nerve hyperexcitability syndrome	Pathogenic	rs1827450545, rs769376680, rs1050199719, rs2131791254, rs2131796689, rs2131791741, rs749644081, rs2131791567	RCV002273860 RCV002273861 RCV002273862 RCV002273863 RCV002273864 RCV002273865 RCV002273866 RCV002273867	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LGI3-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	12023020	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29257304		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28534931, 28579810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29257304		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28534931, 29257304		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31452819		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	31644616		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	31644616	Inhibit	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	31644616		★☆☆☆☆ Found in Text Mining only