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FLASH GENE

Symbol

PCYT2

contributors: mct - updated : 23-11-2021

HGNC name	phosphate cytidylyltransferase 2, ethanolamine
HGNC id	8756

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG82 spastic paraplegia 82
Location	17q25.3      Physical location : 79.860.777 - 79.869.340
Synonym name	ethanolaminephosphate cytidylyltransferase
Synonym symbol(s)	ET, CTP
EC.number	2.7.7.14

DNA

TYPE	functioning gene
STRUCTURE	10.47 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box)
text structure	conserved CAAT boxes at a matching distance (-85/-70 bp) from the transcription start site and contain cis-elements for transcription factors of the CAAT, Sp1 and NF1 family

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001256433 12 - 4927 NP_001243362 - 335 - 2019 31577958 NM_001256434 14 - 5141 NP_001243363 - 348 - 2019 31577958 NM_001330518 12 - 5023 NP_001317447 - 367 - 2019 31577958 NM_002861 13 - 5089 NP_002852 - 389 - 2019 31577958 NM_001184917 14 - 5143 NP_001171846 - 407 - 2019 31577958 NM_001256435 13 - 5373 NP_001243364 - 311 - 2019 31577958 NM_001282204 13 - 5231 NP_001269133 - 357 - 2019 31577958 NM_001282203 13 - 5515 NP_001269132 - 311 - 2019 31577958

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       highly   pancreas exocrine       lowly Nervous brain       lowly Reproductive female system placenta     lowly   male system testis     highly Urinary bladder       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to rattus Pcyt2
	ortholog to murine Pcyt2
	ortholog to drosophila Pect

Homologene

FAMILY

cytidylyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	catalyzing the formation of CDP-ethanolamine from ethanolamine
	important regulatory enzyme in phosphatidylethanolamine and plasmalogen biosynthesis
	PCYT2 is the main regulatory enzyme in de novo biosynthesis of PE from ethanolamine and diacylglycerol by the CDP-ethanolamine Kennedy pathway
	plays a pivotal role in the execution of the processes deregulation of which could lead to the development of obesity, insulin resistance, liver steatosis and dyslipidemia
	PCYT2 and membrane Phosphatidylethanolamine (PE) biogenesis as important determinants of gender-specific differences in cardiac lipids and heart function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

second step of phospholipid biosynthesis and CDP-ethanolamine synthesis

a component

INTERACTION

DNA

RNA

small molecule

protein

NFYA, NFYB, NFYC and YY1 are important for the basal transcription of PCYT2 and NFY is involved in the inhibitory effects of 25-HC on PCYT2 transcription

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG82

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   reduced phosphoethanolamine (PEtn)levels and tumor growth

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS