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PCYT2 - phosphate cytidylyltransferase 2, ethanolamine Gene

Also Known as ET; SPG82

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5833

About PCYT2

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,900,958-81,911,399 (from NCBI)

This gene has 18 transcripts (splice variants), 268 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 31.9), duodenum (RPKM 10.8) and 22 other tissues.

Summary

This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PCYT2 Products (8)

mRNA	Protein	Name
NM_001184917.3	NP_001171846.1	ethanolamine-phosphate cytidylyltransferase isoform 1
NM_001256433.3	NP_001243362.1	ethanolamine-phosphate cytidylyltransferase isoform 5
NM_001256434.3	NP_001243363.1	ethanolamine-phosphate cytidylyltransferase isoform 3
NM_001256435.3	NP_001243364.1	ethanolamine-phosphate cytidylyltransferase isoform 4
NM_001282203.2	NP_001269132.1	ethanolamine-phosphate cytidylyltransferase isoform 4
NM_001282204.2	NP_001269133.1	ethanolamine-phosphate cytidylyltransferase isoform 6
NM_001330518.2	NP_001317447.1	ethanolamine-phosphate cytidylyltransferase isoform 7
NM_002861.5	NP_002852.1	ethanolamine-phosphate cytidylyltransferase isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ethanolamine-phosphate cytidylyltransferase activity	IMP IMP: Inferred from mutant phenotype	31637422	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylethanolamine biosynthetic process	IMP IMP: Inferred from mutant phenotype	31637422	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

PCYT2 Protein Structure

CTP_transf_like

0
100
200
300
389 a.a.

Protein Preferred Names	Protein Names
ethanolamine-phosphate cytidylyltransferase	CTP:phosphoethanolamine cytidylyltransferase

PCYT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PCYT2	Q99447	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	PCYT2	Q99447	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	PCYT2	Q99447	CLVS2	Homo sapiens	Q5SYC1	Y2H Prey Pooling	32296183
Intra	PCYT2	Q99447	CLVS2	Homo sapiens	Q5SYC1	Y2H Array	32296183
Intra	PCYT2	Q99447	INPPL1	Homo sapiens	O15357	Anti Tag CoIP	33961781
Intra	PCYT2	Q99447	INPPL1	Homo sapiens	O15357	Anti Tag CoIP	28514442
Intra	PCYT2	Q99447	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	PCYT2	Q99447	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 82, Autosomal Recessive	SPG82 Hereditary Spastic Paraplegia 82 Spastic Paraplegia 82 Autosomal Recessive Doid:0112343
Spastic Paraplegia 81, Autosomal Recessive	SPG81 Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction Hereditary Spastic Paraplegia 81 Spastic Paraplegia 81 Autosomal Recessive Doid:0112349
Spastic Paraplegia 83, Autosomal Recessive	SPG83 Hereditary Spastic Paraplegia 83 Spastic Paraplegia 83 Autosomal Recessive Doid:0112346 Paraplegia, Spastic, Type 83, Autosomal Recessive
Spastic Paraplegia 79, Autosomal Recessive	Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome SPG79 Neurodegeneration With Optic Atrophy, Childhood-Onset Ndgoa Hereditary Spastic Paraplegia 79 Spastic Paraplegia 79 Autosomal Recessive Doid:0112344 Neurodegeneration, With Optic Atrophy, Childhood-Onset
Ciliary Dyskinesia, Primary, 22	Primary Ciliary Dyskinesia 22 CILD22 Primary Ciliary Dyskinesia 22 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 22, With Or Without Situs Inversus Dyskinesia, Ciliary, Primary, 22
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome SMDCRD Smd-Crd Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy
Spastic Paraplegia 80, Autosomal Dominant	SPG80 Hereditary Spastic Paraplegia 80 Spastic Paraplegia 80 Autosomal Dominant Doid:0112341
Motion Sickness	Airsickness Carsickness Seasickness Travel Sickness Riders' Vertigo
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10182	PCYT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21017	Pcyt2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27534	Pcyt2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PCYT2	RGD	RGD:619970
Bos taurus	PCYT2	VGNC	VGNC:32654
Mus musculus	PCYT2	MGD	MGI:1915921
Macaca mulatta	PCYT2	VGNC	VGNC:75791
Felis catus	PCYT2	VGNC	VGNC:68741
Canis familiaris	PCYT2	VGNC	VGNC:44331
Others	PCYT2	NCBI