LGI3 - leucine rich repeat LGI family member 3 Gene

Also Known as LGIL4; IDDMDS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 203190

About LGI3

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,146,830-22,156,806 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues and 22 paralogues. Biased expression in brain (RPKM 29.1), lung (RPKM 12.3) and 4 other tissues.

Summary

Predicted to enable catalytic activity. Predicted to be involved in regulation of exocytosis. Predicted to be located in extracellular region. Predicted to be active in synaptic vesicle. [provided by Alliance of Genome Resources, Apr 2022]

LGI3 Products (1)

mRNA Protein Name
NM_139278.4 NP_644807.1 leucine-rich repeat LGI family member 3 precursor
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
35948005 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LGI3 Protein Structure

LRR_8

LRR_8: Leucine rich repeat (68 - 124)

EPTP

EPTP: EPTP domain (221 - 263)

EPTP

EPTP: EPTP domain (269 - 309)

EPTP

EPTP: EPTP domain (313 - 360)

EPTP

EPTP: EPTP domain (362 - 405)

EPTP

EPTP: EPTP domain (409 - 453)

EPTP

EPTP: EPTP domain (454 - 497)

EPTP

EPTP: EPTP domain (500 - 540)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 548 a.a.
Protein Preferred Names Protein Names

leucine-rich repeat LGI family member 3

  • LGI1-like protein 4

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
  • IDDMDS

Episodic Ataxia
  • Isaacs Syndrome

  • Neuromyotonia

  • Isaacs' Syndrome

  • Acquired Neuromyotonia

  • Continuous Muscle Fiber Activity Syndrome

  • Quantal Squander Syndrome

  • Isaacs-Mertens Syndrome

  • Ea Syndrome

  • Episodic Ataxia Syndrome

  • Isaac Syndrome

  • Isaac'S-Merten'S Syndrome

  • Isaac-Mertens Syndrome

  • Peripheral Nerve Hyperexcitability

  • Ea

  • Peripheral Nerve Hyperexcitability Syndrome

  • Ataxia, Episodic

  • Isaacs Neuromyotonia

  • Continuous Muscle Fibre Activity

Arthrogryposis Multiplex Congenita-1
Epilepsy, Familial Temporal Lobe, 3
  • Epilepsy, Familial Mesial Temporal Lobe

  • Fmtle

  • Familial Temporal Lobe Epilepsy 3

  • ETL3

  • Familial Mesial Temporal Lobe Epilepsy

Epilepsy, Familial Temporal Lobe, 1
  • ETL1

  • Adpeaf

  • Adlte

  • Epilepsy, Partial, With Auditory Features

  • Autosomal Dominant Partial Epilepsy With Auditory Features

  • Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

  • Familial Temporal Lobe Epilepsy 1

  • Partial Epilepsy With Auditory Features

  • Autosomal Dominant Lateral Temporal Lobe Epilepsy

  • Lateral Temporal Lobe Epilepsy Autosomal Dominant

  • Epilepsy, Temporal Lobe, Familial, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LGI3 RGD RGD:1311079
Macaca mulatta LGI3 VGNC VGNC:74079
Bos taurus LGI3 VGNC VGNC:30858
Canis familiaris LGI3 VGNC VGNC:42652
Felis catus LGI3 VGNC VGNC:63219
Mus musculus LGI3 MGD MGI:2182619
Others LGI3 NCBI