1. Gene
  2. PLCH2 - phospholipase C eta 2 Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables phosphatidylinositol phospholipase C activity IDA
IDA: Inferred from direct assay
18361507 GOA
Biological Process GO Annotation Evidence Reference Source
involved in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
18361507 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

PLCH2 Protein Structure

EF-hand_7

EF-hand_7: EF-hand domain pair (174 - 235)

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (243 - 325)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (328 - 472)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (626 - 739)

C2

C2: C2 domain (760 - 851)

  • 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

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