LGI4 (leucine rich repeat LGI family member 4)

2015-06-01  

Identity

HGNC
LGI4
LOCATION
19q13.12
LOCUSID
163175
ALIAS
AMC1,AMCNMY,LGIL3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 163175
MIM: 608303
HGNC: 18712
Ensembl: ENSG00000153902

Variants:

dbSNP: 163175
ClinVar: 163175
TCGA: ENSG00000153902
COSMIC: LGI4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153902ENST00000310123Q8N135
ENSG00000153902ENST00000392225A8MVC2
ENSG00000153902ENST00000587780K7ENQ0
ENSG00000153902ENST00000591633Q8N135

Expression (GTEx)

0
100
200
300
400
500
600
700
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
LGI-ADAM interactionsREACTOMER-HSA-5682910

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
342881202021Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.0
342881202021Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.0
283184992017Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.11
283184992017Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.11
246628342015Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals.11
246628342015Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals.11
198153582010Positive association between benign familial infantile convulsions and LGI4.2
198153582010Positive association between benign familial infantile convulsions and LGI4.2
202200212010Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling.43
198153582010Positive association between benign familial infantile convulsions and LGI4.2
198153582010Positive association between benign familial infantile convulsions and LGI4.2
202200212010Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling.43
145052282004Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.7
145052282004Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.7
145052282004Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.7

Citation

Dessen P

LGI4 (leucine rich repeat LGI family member 4)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/gene/55267