PLCH2 - phospholipase C eta 2 Gene

Homo sapiens

Also known as PLCL4; PLC-L4; PLCeta2; PLC-eta2

Gene ID: 9651 | Gene type: protein coding

About PLCH2

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,415,943-2,505,532 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 258 orthologues and 14 paralogues. Biased expression in skin (RPKM 13.2), brain (RPKM 3.0) and 10 other tissues.

Summary

PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific Phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]

PLCH2 Products(3)

mRNA	Protein	Name
NM_001303012.2	NP_001289941.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 2
NM_001303013.1	NP_001289942.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 3
NM_014638.4	NP_055453.2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 1

PLCH2 Protein Structure

EF-hand_7

EF-hand_like

PI-PLC-X

PI-PLC-Y

0
300
600
900
1200
1416 a.a.

Protein Preferred Names

Protein Names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2

phosphoinositide phospholipase C-eta-2

Related Diseases

Diseases

Alias

Hypocalcemia, Autosomal Dominant 2

Autosomal Dominant Hypocalcemia 2	HYPOC2
Hypocalcemia, Autosomal Dominant, Type 2

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

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-RS10663	PLCH2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLCH2	RGD	RGD:1304675
Felis catus	PLCH2	VGNC	VGNC:80307
Canis familiaris	PLCH2	VGNC	VGNC:44654
Mus musculus	PLCH2	MGD	MGI:2443078
Bos taurus	PLCH2	VGNC	VGNC:32991
Macaca mulatta	PLCH2	VGNC	VGNC:76129

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