1. Gene
  2. LRRC8B - leucine rich repeat containing 8 VRAC subunit B Gene

LRRC8B - leucine rich repeat containing 8 VRAC subunit B Gene

中文名称:含富含亮氨酸重复序列的 8 VRAC B 亚基

种属: Homo sapiens

同用名: TALRRP; TA-LRRP

基因 ID: 23507 | 基因类型: protein coding

关于 LRRC8B

Cytogenetic location: 1p22.2 Genomic coordinates (GRCh38): 1:89,524,338-89,597,861 (from NCBI)

This gene has 5 transcripts (splice variants), 133 orthologues and 31 paralogues. Broad expression in brain (RPKM 8.6), adrenal (RPKM 5.3) and 25 other tissues.

功能概要

有助于体积敏感的阴离子通道活动。参与阴离子跨膜转运。位于细胞质和质膜中。是质膜的组成部分。离子通道复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Contributes to volume-sensitive anion channel activity. Involved in anion transmembrane transport. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. Part of ion channel complex. [provided by Alliance of Genome Resources, Apr 2022]

LRRC8B 基因产物(4)

mRNA Protein Name
NM_001134476.2 NP_001127948.1 volume-regulated anion channel subunit LRRC8B
NM_001369817.2 NP_001356746.1 volume-regulated anion channel subunit LRRC8B
NM_001369819.2 NP_001356748.1 volume-regulated anion channel subunit LRRC8B
NM_015350.4 NP_056165.1 volume-regulated anion channel subunit LRRC8B
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
contributes to volume-sensitive anion channel activity IMP
IMP: 通过突变表型推断
28193731 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
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
part of monoatomic ion channel complex IMP
IMP: 通过突变表型推断
28193731 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
28193731 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

LRRC8B 蛋白结构

Pannexin_like

Pannexin_like: Pannexin-like TM region of LRRC8 (1 - 66)

Pannexin_like

Pannexin_like: Pannexin-like TM region of LRRC8 (94 - 152)

LRR_8

LRR_8: Leucine rich repeat (487 - 545)

LRR_8

LRR_8: Leucine rich repeat (586 - 645)

(656 - 672)

LRR_8

LRR_8: Leucine rich repeat (680 - 737)

LRR_1

LRR_1: Leucine Rich Repeat (749 - 770)

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

volume-regulated anion channel subunit LRRC8B

T-cell activation leucine repeat-rich protein

LRRC8B 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
LRRC8B Q6P9F7 LRRC8A Homo sapiens Q8IWT6 33961781
种属内
LRRC8B Q6P9F7 LRRC8A Homo sapiens Q8IWT6 28514442
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 44

SCA44

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, 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 LRRC8B RGD RGD:1563429
Canis familiaris LRRC8B VGNC VGNC:42815
Mus musculus LRRC8B MGD MGI:2141353
Macaca mulatta LRRC8B VGNC VGNC:81439
Bos taurus LRRC8B VGNC VGNC:31030