1. Gene
  2. CHRNB4 - cholinergic receptor nicotinic beta 4 subunit Gene

CHRNB4 - cholinergic receptor nicotinic beta 4 subunit Gene

中文名称:胆碱能受体烟碱β4 亚单位

种属: Homo sapiens

基因 ID: 1143 | 基因类型: protein coding

关于 CHRNB4

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:78,624,111-78,661,641 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues and 45 paralogues. Biased expression in testis (RPKM 1.1), adrenal (RPKM 0.6) and 7 other tissues.

功能概要

该基因存在于一个保守的基因簇中,编码烟碱乙酰胆碱受体 (nAChRs) 超家族的 β 亚基之一,该超家族形成配体门控离子通道,中心孔形成阳离子通道。神经元 nAChR 是五聚体结构,可以是同聚体或异聚体,异聚体结构包含 α 和 β 亚基。每个亚基包含一个胞外氨基末端和四个跨膜结构域。尼古丁是与受体结合的激动剂之一。该基因的变异与尼古丁依赖和肺癌有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2017 年 9 月]

This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung Cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]

CHRNB4 基因产物(2)

mRNA Protein Name
NM_000750.5 NP_000741.1 neuronal acetylcholine receptor subunit beta-4 isoform 1 precursor
NM_001256567.3 NP_001243496.1 neuronal acetylcholine receptor subunit beta-4 isoform 2 precursor
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 acetylcholine receptor activity IDA
IDA: 通过直接分析推断
8906617 GOA
enables acetylcholine-gated monoatomic cation-selective channel activity IDA
IDA: 通过直接分析推断
18387948 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27344019 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in signal transduction IDA
IDA: 通过直接分析推断
8906617 GOA
involved in synaptic transmission involved in micturition IMP
IMP: 通过突变表型推断
11450844 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of acetylcholine-gated channel complex IDA
IDA: 通过直接分析推断
8906617 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

CHRNB4 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (27 - 232)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (239 - 478)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 498 a.a.
蛋白主名 其他名称

neuronal acetylcholine receptor subunit beta-4

acetylcholine receptor, nicotinic, beta 4 (neuronal)

CHRNB4 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
CHRNB4 P30926 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
CHRNB4 P30926 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
CHRNB4 P30926 MEOX2 Homo sapiens Q6FHY5 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

CHRNB4 抗体

目录号 产品名 应用 反应物种
HY-P84250 CHRNB4 Antibody (YA3947) ICC/IF, FC, ELISA Human

关联疾病

疾病名称 别名
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome

Substance Dependence
Cocaine Dependence
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Drug Dependence
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

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
Mus musculus CHRNB4 MGD MGI:87892
Rattus norvegicus CHRNB4 RGD RGD:2351
Macaca mulatta CHRNB4 VGNC VGNC:104701
Felis catus CHRNB4 VGNC VGNC:60886
Canis familiaris CHRNB4 VGNC VGNC:39245
Bos taurus CHRNB4 VGNC VGNC:27333