phosphate cytidylyltransferase 2, ethanolamine

Summary
Gene Symbol
  • PCYT2
Aliases
  • CTP:phosphoethanolamine cytidylyltransferase
  • ET
  • ethanolamine-phosphate cytidylyltransferase:
  • phosphorylethanolamine transferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
5833
HGNC
8756
KEGG Gene ID
hsa:5833
PubChem
5833
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Disease variant
  • Hereditary spastic paraplegia
  • Lipid biosynthesis
  • Nucleotidyltransferase
  • Phospholipid biosynthesis
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
Proteins
Displaying all 4 entries
UniProt Protein Name
Q99447
  • CTP:phosphoethanolamine cytidylyltransferase
  • Phosphorylethanolamine transferase
I3L1R7
  • CTP:phosphoethanolamine cytidylyltransferase
B3KSC8
  • CTP:phosphoethanolamine cytidylyltransferase
B7Z4W6
  • CTP:phosphoethanolamine cytidylyltransferase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000185813

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 1 - 10 of 66 in total
DO ID Disease Name Source
DOID:0050886 Troyer syndrome
DOID:0060245 Mast syndrome
DOID:0060246 MASA syndrome
DOID:0060491 SPOAN syndrome
DOID:0080067 Charcot-Marie-Tooth disease type 5
DOID:0110763 hereditary spastic paraplegia 10
DOID:0110764 hereditary spastic paraplegia 11
DOID:0110765 hereditary spastic paraplegia 12
DOID:0110766 hereditary spastic paraplegia 13
DOID:0110767 hereditary spastic paraplegia 14
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000750 Delayed speech and language development
HP:0001249 Intellectual disability
HP:0001257 Spasticity
HP:0001347 Hyperreflexia
HP:0002059 Cerebral atrophy
HP:0002376 Developmental regression
HP:0003487 Babinski sign
Displaying 1 entry
Disease ID Disease Name
OMIM:618770
  • spastic paraplegia 82, autosomal recessive
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001012
Gene Name
phosphate cytidylyltransferase 2, ethanolamine

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024