1. Gene
  2. LRRC8C - leucine rich repeat containing 8 VRAC subunit C Gene

LRRC8C - leucine rich repeat containing 8 VRAC subunit C Gene

中文名称:含富含亮氨酸重复序列的 8 VRAC C 亚基

种属: Homo sapiens

同用名: AD158; FAD158

基因 ID: 84230 | 基因类型: protein coding

关于 LRRC8C

Cytogenetic location: 1p22.2 Genomic coordinates (GRCh38): 1:89,615,824-89,719,533 (from NCBI)

This gene has 4 transcripts (splice variants), 203 orthologues and 31 paralogues. Ubiquitous expression in fat (RPKM 7.4), lymph node (RPKM 5.7) and 24 other tissues.

功能概要

启用体积敏感的阴离子通道活动。参与跨质膜的环状 GMP-AMP 跨膜导入。位于细胞质和质膜中。是质膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables volume-sensitive anion channel activity. Involved in cyclic-GMP-AMP transmembrane import across plasma membrane. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

LRRC8C 基因产物(1)

mRNA Protein Name
NM_032270.5 NP_115646.3 volume-regulated anion channel subunit LRRC8C
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24790029 GOA
enables volume-sensitive anion channel activity IMP
IMP: 通过突变表型推断
26824658 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cyclic-GMP-AMP transmembrane import across plasma membrane IDA
IDA: 通过直接分析推断
33171122 GOA
involved in monoatomic anion transmembrane transport IMP
IMP: 通过突变表型推断
24790029 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
24790029 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24790029 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
26824658 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

LRRC8C 蛋白结构

Pannexin_like

Pannexin_like: Pannexin-like TM region of LRRC8 (1 - 64)

Pannexin_like

Pannexin_like: Pannexin-like TM region of LRRC8 (100 - 158)

LRR_8

LRR_8: Leucine rich repeat (589 - 649)

LRR_1

LRR_1: Leucine Rich Repeat (661 - 680)

LRR_1

LRR_1: Leucine Rich Repeat (684 - 703)

  • 0
  • 200
  • 400
  • 600
  • 803 a.a.
蛋白主名 其他名称

volume-regulated anion channel subunit LRRC8C

factor for adipocyte differentiation 158

关联疾病

疾病名称 别名
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Mlc

Van Der Knaap Disease

Lvm

Leukoencephalopathy With Swelling And Cysts

Megalencephaly-Cystic Leukodystrophy

Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

Infantile Leukoencephalopathy And Megalencephaly

Leukoencephalopathy With Swelling And A Discrepantly Mild Course

Vacuolating Leukoencephalopathy

Megalencephalic Leukodystrophy

Megalencephaly-Cystic Leukodystrophy Syndrome

Van Der Knaap Syndrome

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

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
Macaca mulatta LRRC8C VGNC VGNC:81440
Bos taurus LRRC8C VGNC VGNC:31031
Felis catus LRRC8C VGNC VGNC:80269
Canis familiaris LRRC8C VGNC VGNC:42816
Rattus norvegicus LRRC8C RGD RGD:1306585
Mus musculus LRRC8C MGD MGI:2140839