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

PLCB4 - phospholipase C beta 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ARCND2; PI-PLC

Gene ID: 5332 | Gene type: protein coding

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

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)

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  • 1175 a.a.
Protein Preferred Names Protein Names

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

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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10655 PLCB4 Human Pre-designed siRNA Set A / 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