PLCB4 - phospholipase C beta 4 Gene

Also Known as ARCND2; PI-PLC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5332

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in phospholipase C-activating endothelin receptor signaling pathway IDA
IDA: Inferred from direct assay
35284927 GOA
Cellular Component GO Annotation Evidence Referencias Source
located in plasma membrane IDA
IDA: Inferred from direct assay
35284927 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLCB4 Protein Structure

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
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1175 a.a.
Protein Preferred Names Protein Names

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

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

PLCB4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
PLCB4 Q15147 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra
PLCB4 Q15147 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
PLCB4 Q15147 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
PLCB4 Q15147 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-P11540 CCKBR agonist-1 98.48% Unkown
HY-RS10655 PLCB4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others PLCB4 NCBI