2. Gene
  3. PCYT2 - phosphate cytidylyltransferase 2, ethanolamine Gene

PCYT2 - phosphate cytidylyltransferase 2, ethanolamine Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ET; SPG82

Gene ID: 5833 | Gene type: protein coding

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 Reference 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 Reference 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

CTP_transf_like: Cytidylyltransferase-like (26 - 150)

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (218 - 308)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10182 PCYT2 Human Pre-designed siRNA Set A Pre-designed Sets / 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