1. Gene
  2. GNB4 - G protein subunit beta 4 Gene

GNB4 - G protein subunit beta 4 Gene

中文名称:G 蛋白亚基β4

种属: Homo sapiens

同用名: HG2B; CMTD1F

基因 ID: 59345 | 基因类型: protein coding

关于 GNB4

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:179,396,088-179,527,798 (from NCBI)

This gene has 10 transcripts (splice variants), 229 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 14.7), appendix (RPKM 12.1) and 24 other tissues.

功能概要

异源三聚体鸟嘌呤核苷酸结合蛋白 (G 蛋白) 整合受体和效应蛋白之间的信号,由 alpha、beta 和 gamma 亚基组成。这些亚基由相关基因家族编码。该基因编码一个β亚基。 β 亚基是 α 亚基以及某些信号转导受体和效应器的重要调节剂。[RefSeq 提供,2008 年 7 月]

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

GNB4 基因产物(1)

mRNA Protein Name
NM_021629.4 NP_067642.1 guanine nucleotide-binding protein subunit beta-4
基因本体论
  • 分子功能
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
32814053 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
23209302 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

GNB4 蛋白结构

WD40

WD40: WD domain, G-beta repeat (49 - 83)

WD40

WD40: WD domain, G-beta repeat (97 - 125)

WD40

WD40: WD domain, G-beta repeat (137 - 170)

WD40

WD40: WD domain, G-beta repeat (175 - 212)

WD40

WD40: WD domain, G-beta repeat (217 - 254)

WD40

WD40: WD domain, G-beta repeat (272 - 298)

WD40

WD40: WD domain, G-beta repeat (306 - 340)

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

guanine nucleotide-binding protein subunit beta-4

G protein beta-4 subunit

GNB4 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
GNB4 Q9HAV0 LAMP2 Homo sapiens P13473-2 32814053
种属内
GNB4 Q9HAV0 LAMP2 Homo sapiens P13473-2 32814053
种属内
GNB4 Q9HAV0 LAMP2 Homo sapiens P13473-2 32814053
种属内
GNB4 Q9HAV0 SH3GLB1 Homo sapiens Q9Y371 32814053
种属内
GNB4 Q9HAV0 SH3GLB1 Homo sapiens Q9Y371 32814053
种属内
GNB4 Q9HAV0 SH3GLB1 Homo sapiens Q9Y371 32814053
种属内
GNB4 Q9HAV0 CASP6 Homo sapiens P55212 32814053
种属内
GNB4 Q9HAV0 CASP6 Homo sapiens P55212 32814053
种属内
GNB4 Q9HAV0 CASP6 Homo sapiens P55212 32814053
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
Charcot-Marie-Tooth Disease, Dominant Intermediate F

CMTDIF

Charcot-Marie-Tooth Disease Dominant Intermediate F

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Recessive Intermediate A

Charcot-Marie-Tooth Disease Recessive Intermediate A

CMTRIA

Ri-Cmta

Charcot-Marie-Tooth Disease, Recessive Intermediate, A

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A

Charcot-Marie-Tooth Neuropathy Recessive Intermediate A

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A

Ri-Cmt Type A

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h

CSNB1H

Congenital Stationary Night Blindness Type 1h

Night Blindness, Congenital Stationary, 1h

Charcot-Marie-Tooth Disease, Recessive Intermediate C

Charcot-Marie-Tooth Disease Recessive Intermediate C

CMTRIC

Ri-Cmtc

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C

Ri-Cmt Type C

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C

Charcot-Marie-Tooth Neuropathy Recessive Intermediate C

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Charcot-Marie-Tooth Disease Intermediate Type

Intermediate Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease Dominant Intermediate

Charcot-Marie-Tooth Disease Recessive Intermediate

Intermediate Cmt

Intermediate Hereditary Motor And Sensory Neuropathy

Charcot-Marie-Tooth Disease, Intermediate Type

Charcot-Marie-Tooth, Intermediate

Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE

Charcot-Marie-Tooth Disease Dominant Intermediate E

Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E

Charcot-Marie-Tooth Disease-Nephropathy Syndrome

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

Charcot-Marie-Tooth Disease, Recessive Intermediate B

Charcot-Marie-Tooth Disease Recessive Intermediate B

CMTRIB

Ri-Cmtb

Charcot-Marie-Tooth Disease, Recessive Intermediate, B

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B

Charcot-Marie-Tooth Neuropathy Recessive Intermediate B

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B

Ri-Cmt Type B

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Microphthalmia, Syndromic 3

MCOPS3

Aeg Syndrome

Microphthalmia And Esophageal Atresia Syndrome

Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome

Anophthalmia-Esophageal-Genital Syndrome

Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System

Syndromic Microphthalmia 3

Sox2 Anophthalmia Syndrome

Anophthalmia Clinical With Associated Anomalies

Anophthalmia Esophageal Genital Syndrome

Anophthalmia Microphthalmia Esophageal Atresia

Syndromic Microphthalmia Type 3

Sox2-Related Eye Disorders

Anophthalmia, Clinical, With Associated Anomalies

Syndromic Microphthalmia, Type 3

Microphthalmia, Syndromic, 3

Anophthalmia/Microphthalmia-Esophageal Atresia

Microphthalmia Syndromic, Type 3

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

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 GNB4 MGD MGI:104581
Canis familiaris GNB4 VGNC VGNC:41315
Rattus norvegicus GNB4 RGD RGD:1359321
Macaca mulatta GNB4 VGNC VGNC:72975
Bos taurus GNB4 VGNC VGNC:29461
Felis catus GNB4 VGNC VGNC:102748