1. Gene
  2. LGI3 - leucine rich repeat LGI family member 3 Gene

LGI3 - leucine rich repeat LGI family member 3 Gene

中文名称:富亮氨酸重复 LGI 家族成员 3

种属: Homo sapiens

同用名: LGIL4; IDDMDS

基因 ID: 203190 | 基因类型: protein coding

关于 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.

功能概要

预计能够实现催化活性。预计参与胞吐作用的调节。预测位于细胞外区域。预测在突触小泡中活跃。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_139278.4 NP_644807.1 leucine-rich repeat LGI family member 3 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
35948005 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

LGI3 蛋白结构

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.
蛋白主名 其他名称

leucine-rich repeat LGI family member 3

LGI1-like protein 4

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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