2. Gene
  3. PLCB4 - phospholipase C beta 4 Gene

PLCB4 - phospholipase C beta 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷脂酶 C β 4

种属: Homo sapiens

同用名: ARCND2; PI-PLC

基因 ID: 5332 | 基因类型: protein coding

关于 PLCB4

Cytogenetic location: 20p12.3-p12.2 Genomic coordinates (GRCh38): 20:9,068,678-9,480,808 (from NCBI)

This gene has 61 transcripts (splice variants), 217 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in thyroid (RPKM 7.9), salivary gland (RPKM 5.4) and 19 other tissues.

功能概要

该基因编码的蛋白质催化磷脂酰肌醇 4,5-二磷酸形成肌醇 1,4,5-三磷酸和甘油二酯。该反应使用钙作为辅助因子，在视网膜中许多细胞外信号的细胞内转导中起着重要作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2010 年 2 月]

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]

PLCB4 基因产物(8)

mRNA Protein Name
NM_000933.4 NP_000924.3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a
NM_001172646.2 NP_001166117.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform c
NM_001377134.2 NP_001364063.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a
NM_001377135.1 NP_001364064.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a
NM_001377136.1 NP_001364065.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b
NM_001377142.1 NP_001364071.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d
NM_001377143.1 NP_001364072.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d
NM_182797.3 NP_877949.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phospholipase C-activating endothelin receptor signaling pathway IDA
IDA: 通过直接分析推断
35284927 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
35284927 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

PLCB4 蛋白结构

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (221 - 312)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (315 - 464)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (565 - 681)

C2

C2: C2 domain (704 - 780)

DUF1154

DUF1154: Protein of unknown function (DUF1154) (913 - 955)

  • 0
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  • 800
  • 1000
  • 1175 a.a.
蛋白主名 其他名称

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4

1-phosphatidyl-D-myo-inositol-4,5-bisphosphate

PLCB4 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
PLCB4 Q15147 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
种属内
PLCB4 Q15147 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
种属内
PLCB4 Q15147 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
种属内
PLCB4 Q15147 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
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
Auriculocondylar Syndrome 2

ARCND2

Auriculocondylar Syndrome, Type 2
Auriculo-Condylar Syndrome

Auriculocondylar Syndrome

Dysgnathia Complex

Ears Prominent And Constricted

Question Mark Ear

Question-Mark Ear Syndrome

Question Mark Ear Syndrome
Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris
Ocular Melanoma

Intraocular Melanoma

Uveal Melanoma

Eye Melanoma

Melanoma Of Eye

Melanoma Of The Uvea

Malignant Melanoma Of Eye
Auriculocondylar Syndrome 1

Question Mark Ears Syndrome

ARCND1

Dysgnathia Complex

Acs

Auriculocondylar Syndrome, Type 1

Auriculo-Condylar Syndrome

Stomatognathic System Abnormalities
Spondylometaphyseal Dysplasia With Corneal Dystrophy

SMDCD

Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome

Smd-Corneal Dystrophy Syndrome
Ankylosis
Myasthenic Syndrome, Congenital, 18

Congenital Myasthenic Syndrome 18

CMS18

Myasthenic Syndrome, Congenital, 18, With Intellectual Disability And Ataxia

Myasthenic Syndrome, Congenital, 18 With Intellectual Disability And Ataxia

Myasthenic Syndrome, Congenital, Type 18
Diffuse Meningeal Melanocytosis

Diffuse Melanocytosis

Diffuse Melanosis
Malignant Conjunctival Melanoma

Conjunctival Melanoma

Malignant Melanoma Of Conjunctiva

Conjunctival Malignant Melanoma
Mongolian Spot

Mongolian Macula
Hypophosphatasia

Phosphoethanolaminuria

Childhood Hypophosphatasia

Deficiency Of Alkaline Phosphatase

Hypophospatasia, Childhood

Hypophosphatasia Mild

Phosphoethanol-Aminuria

Rathburn Disease

Hpp

Rathbun Disease

Hypophosphatasia, Childhood

Infantile Hypophosphatasia
Central Nervous System Melanocytic Neoplasm

Primary Melanocytic Lesion Of Meninges

Central Nervous System Primary Melanocytic Lesion

Melanocytic Tumor Of The Cns

Primary Melanocytic Lesions Of The Cns
Conjunctival Cancer

Malignant Neoplasm Of Conjunctiva

Conjunctival Neoplasms

Conjunctival Tumor

Malignant Conjunctival Tumor

Malignant Tumor Of Conjunctiva

Neoplasm Of Conjunctiva

Conjunctiva Cancer

Primary Malignant Neoplasm Of Conjunctiva
Mandibulofacial Dysostosis With Alopecia

MFDA
Sweeney-Cox Syndrome

SWCOS
Posterior Uveal Melanoma

Medium/Large Size Posterior Uveal Melanoma

Small Size Posterior Uveal Melanoma

Ciliary Body And Choroid Melanoma, Medium/Large Size

Ciliary Body And Choroid Melanoma, Small Size
Huntington Disease-Like 1

HDL1

Huntington-Like Neurodegenerative Disorder 1

Hln1

Huntington'S Disease-Like 1

Early-Onset Prion Disease With Prominent Psychiatric Features

Huntington-Like Neurodegenerative Disorder, Autosomal Dominant

Prion Disease, Early-Onset, With Prominent Psychiatric Features

Autosomal Dominant Huntington-Like Neurodegenerative Disorder

Huntington Disease-Like, Type 1
Epithelioid Cell Melanoma

Epithelioid Melanoma
Uveal Disease

Uveal Diseases
Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10655 PLCB4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PLCB4 VGNC VGNC:97117
Mus musculus PLCB4 MGD MGI:107464
Bos taurus PLCB4 VGNC VGNC:32983
Felis catus PLCB4 VGNC VGNC:68895
Canis familiaris PLCB4 VGNC VGNC:44646
Rattus norvegicus PLCB4 RGD RGD:3345
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