Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64850
Gene name Gene Name - the full gene name approved by the HGNC.	Ethanolamine-phosphate phospho-lyase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ETNPPL
Synonyms (NCBI Gene) Gene synonyms aliases	AGXT2L1
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q25

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022622	hsa-miR-124-3p	Microarray	18668037

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006649	Process	Phospholipid transfer to membrane	IEA
GO:0008483	Function	Transaminase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0032094	Process	Response to food	IEA
GO:0050459	Function	Ethanolamine-phosphate phospho-lyase activity	IBA
GO:0050459	Function	Ethanolamine-phosphate phospho-lyase activity	IDA	22241472
GO:0050459	Function	Ethanolamine-phosphate phospho-lyase activity	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:1905372	Process	Ceramide phosphoethanolamine catabolic process	IEA

MIM	HGNC	e!Ensembl
614682	14404	ENSG00000164089

Protein

UniProt ID

Q8TBG4

Protein name

Ethanolamine-phosphate phospho-lyase (EC 4.2.3.2) (Alanine--glyoxylate aminotransferase 2-like 1)

Protein function

Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde.

PDB

6TOR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00202	Aminotran_3	26 → 433	Aminotransferase class-III	Domain

Sequence

MCELYSKRDTLGLRKKHIGPSCKVFFASDPIKIVRAQRQYMFDENGEQYLDCINNVAHVG
HCHPGVVKAALKQMELLNTNSRFLHDNIVEYAKRLSATLPEKLSVCYFTNSGSEANDLAL
RLARQFRGHQDVITLDHAYHGHLSSLIEISPYKFQKGKDVKKEFVHVAPTPDTYRGKYRE
DHADSASAYADEVKKIIEDAHNSGRKIAAFIAESMQSCGGQIIPPAGYFQKVAEYVHGAG
GVFIADEVQVGFGRVGKHFWSFQMYGEDFVPDIVTMGKPMGNGHPVACVVTTKEIAEAFS
SSGMEYFNTYGGNPVSCAVGLAVLDIIENEDLQGNAKRVGNYLTELLKKQKAKHTLIGDI
RGIGLFIGIDLVKDHLKRTPATAEAQHIIYKMKEKRVLLSADGPHRNVLKIKPPMCFTEE
DAKFMVDQLDRILTVLEEAMGTKTESVTSENTPCKTKMLKEAHIELLRDSTTDSKENPSR
KRNGMCTDTHSLLSKRLKT

Sequence length

499

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Metabolic pathways		Synthesis of PE

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Glioblastoma	Glioblastoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bipolar Disorder	Associate	18191109
Carcinoma Hepatocellular	Inhibit	37637156
Carcinoma Hepatocellular	Associate	40154596
Cerebral Infarction	Associate	26352407
Glioblastoma	Associate	32647207
Glioma	Inhibit	32218467
Liver Diseases	Associate	40154596
Mental Disorders	Associate	23761375
Mitochondrial Diseases	Associate	40154596
Neoplasm Metastasis	Associate	37637156
Neoplasms	Stimulate	40154596
Parkinson Disease	Associate	39684817
Pigmentation Disorders	Associate	39684817
Sarcopenia	Associate	36050999
Schizophrenia	Associate	18191109
Stomach Neoplasms	Inhibit	34549263

ETNPPL (ethanolamine-phosphate phospho-lyase)