1. Gene
  2. PLA2G4E - phospholipase A2 group IVE Gene

PLA2G4E - phospholipase A2 group IVE Gene

Homo sapiens
Gene ID: 123745 | Gene type: protein coding

About PLA2G4E

This gene has 9 transcripts (splice variants), 312 orthologues and 5 paralogues. Restricted expression toward skin (RPKM 22.1).

Summary

This gene encodes a member of the cytosolic Phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The Enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The Enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]

PLA2G4E Products(2)

mRNA Protein Name
NM_001206670.1 NP_001193599.1 cytosolic phospholipase A2 epsilon isoform 1
NM_001395548.1 NP_001382477.1 cytosolic phospholipase A2 epsilon isoform 2

PLA2G4E Protein Structure

C2

C2: C2 domain (70 - 150)

PLA2_B

PLA2_B: Lysophospholipase catalytic domain (374 - 612)

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  • 868 a.a.
Protein Preferred Names Protein Names

cytosolic phospholipase A2 epsilon

cPLA2-epsilon

Related Diseases

Diseases Alias
Congenital Disorder Of Glycosylation, Type Iic

CDG2C

Congenital Disorder Of Glycosylation Type Iic

Leukocyte Adhesion Deficiency Type Ii

Cdg Iic

Cdgiic

Rambam-Hasharon Syndrome

Leukocyte Adhesion Deficiency, Type Ii

Lad2

Leukocyte Adhesion Deficiency 2

Cdg-Iic

Congenital Disorder Of Glycosylation, Type 2c

Rhs

Cdg Syndrome Type Iic

Lad-Ii

Rambam Hasharon Syndrome

Congenital Disorder Of Glycosylation 2c

Glycosylation, Congenital Disorder Of, Type Iic

Cerebral Creatine Deficiency Syndrome 3

Arginine:Glycine Amidinotransferase Deficiency

Agat Deficiency

Gatm Deficiency

Creatine Deficiency Syndrome Due To Agat Deficiency

L-Arginine:Glycine Amidinotransferase Deficiency

CCDS3

L-Arginine:Glycine Aminidotransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 3

Ectodermal Dysplasia 9, Hair/Nail Type

ECTD9

Ectodermal Dysplasia 9

Dysplasia, Ectodermal, Type 9, Hair/Nail

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
Canis familiaris PLA2G4E VGNC VGNC:44628
Bos taurus PLA2G4E VGNC VGNC:55135
Rattus norvegicus PLA2G4E RGD RGD:1310595
Felis catus PLA2G4E VGNC VGNC:64201
Macaca mulatta PLA2G4E VGNC VGNC:84421
Mus musculus PLA2G4E MGD MGI:1919144