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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8228
Gene name	Patatin like domain 4, phospholipase and triacylglycerol lipase
Gene symbol	PNPLA4
Synonyms (NCBI Gene)	DXS1283EGS2iPLA2eta
Chromosome	X
Chromosome location	Xp22.31
Summary	This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple trans

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020687	hsa-miR-155-5p	Proteomics	18668040
MIRT662530	hsa-miR-3123	HITS-CLIP	23824327
MIRT662529	hsa-miR-5739	HITS-CLIP	23824327
MIRT439941	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439940	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439941	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726914	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726913	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726912	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726911	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439940	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT662530	hsa-miR-3123	PAR-CLIP	27292025
MIRT662530	hsa-miR-3123	PAR-CLIP	27292025
MIRT662530	hsa-miR-3123	PAR-CLIP	27292025
MIRT662530	hsa-miR-3123	PAR-CLIP	27292025
MIRT662530	hsa-miR-3123	PAR-CLIP	27292025
MIRT662529	hsa-miR-5739	PAR-CLIP	27292025
MIRT662529	hsa-miR-5739	PAR-CLIP	27292025
MIRT662529	hsa-miR-5739	PAR-CLIP	27292025
MIRT662529	hsa-miR-5739	PAR-CLIP	27292025
MIRT662529	hsa-miR-5739	PAR-CLIP	27292025
MIRT662530	hsa-miR-3123	HITS-CLIP	23824327
MIRT662529	hsa-miR-5739	HITS-CLIP	23824327
MIRT1245426	hsa-miR-1225-5p	CLIP-seq
MIRT1245427	hsa-miR-1291	CLIP-seq
MIRT1245428	hsa-miR-136	CLIP-seq
MIRT1245429	hsa-miR-214	CLIP-seq
MIRT1245430	hsa-miR-216a	CLIP-seq
MIRT1245431	hsa-miR-328	CLIP-seq
MIRT1245432	hsa-miR-3607-5p	CLIP-seq
MIRT1245433	hsa-miR-3616-5p	CLIP-seq
MIRT1245434	hsa-miR-3619-5p	CLIP-seq
MIRT1245435	hsa-miR-3647-5p	CLIP-seq
MIRT1245436	hsa-miR-3657	CLIP-seq
MIRT1245437	hsa-miR-382	CLIP-seq
MIRT1245438	hsa-miR-4286	CLIP-seq
MIRT1245439	hsa-miR-4290	CLIP-seq
MIRT1245440	hsa-miR-4291	CLIP-seq
MIRT1245441	hsa-miR-4326	CLIP-seq
MIRT1245442	hsa-miR-4635	CLIP-seq
MIRT1245443	hsa-miR-4659a-5p	CLIP-seq
MIRT1245444	hsa-miR-4659b-5p	CLIP-seq
MIRT1245445	hsa-miR-4669	CLIP-seq
MIRT1245446	hsa-miR-4687-3p	CLIP-seq
MIRT1245447	hsa-miR-4716-5p	CLIP-seq
MIRT1245448	hsa-miR-4762-5p	CLIP-seq
MIRT1245449	hsa-miR-4769-3p	CLIP-seq
MIRT1245450	hsa-miR-4795-5p	CLIP-seq
MIRT1245451	hsa-miR-5096	CLIP-seq
MIRT1245452	hsa-miR-511	CLIP-seq
MIRT1245453	hsa-miR-532-5p	CLIP-seq
MIRT1245454	hsa-miR-548n	CLIP-seq
MIRT1245455	hsa-miR-548t	CLIP-seq
MIRT1245456	hsa-miR-573	CLIP-seq
MIRT1245457	hsa-miR-584	CLIP-seq
MIRT1245458	hsa-miR-587	CLIP-seq
MIRT1245459	hsa-miR-635	CLIP-seq
MIRT1245460	hsa-miR-647	CLIP-seq
MIRT1245461	hsa-miR-652	CLIP-seq
MIRT1245462	hsa-miR-654-3p	CLIP-seq
MIRT1245463	hsa-miR-663b	CLIP-seq
MIRT1245464	hsa-miR-761	CLIP-seq
MIRT1245465	hsa-miR-922	CLIP-seq
MIRT1245426	hsa-miR-1225-5p	CLIP-seq
MIRT1245466	hsa-miR-142-5p	CLIP-seq
MIRT1245429	hsa-miR-214	CLIP-seq
MIRT1245430	hsa-miR-216a	CLIP-seq
MIRT1245467	hsa-miR-335	CLIP-seq
MIRT1245468	hsa-miR-340	CLIP-seq
MIRT1245469	hsa-miR-3613-3p	CLIP-seq
MIRT1245433	hsa-miR-3616-5p	CLIP-seq
MIRT1245434	hsa-miR-3619-5p	CLIP-seq
MIRT1245435	hsa-miR-3647-5p	CLIP-seq
MIRT1245436	hsa-miR-3657	CLIP-seq
MIRT1245437	hsa-miR-382	CLIP-seq
MIRT1245438	hsa-miR-4286	CLIP-seq
MIRT1245440	hsa-miR-4291	CLIP-seq
MIRT1245470	hsa-miR-4454	CLIP-seq
MIRT1245471	hsa-miR-4519	CLIP-seq
MIRT1245442	hsa-miR-4635	CLIP-seq
MIRT1245445	hsa-miR-4669	CLIP-seq
MIRT1245446	hsa-miR-4687-3p	CLIP-seq
MIRT1245448	hsa-miR-4762-5p	CLIP-seq
MIRT1245450	hsa-miR-4795-5p	CLIP-seq
MIRT1245452	hsa-miR-511	CLIP-seq
MIRT1245472	hsa-miR-513c	CLIP-seq
MIRT1245473	hsa-miR-514b-5p	CLIP-seq
MIRT1245474	hsa-miR-548ae	CLIP-seq
MIRT1245475	hsa-miR-548aj	CLIP-seq
MIRT1245476	hsa-miR-548am	CLIP-seq
MIRT1245454	hsa-miR-548n	CLIP-seq
MIRT1245455	hsa-miR-548t	CLIP-seq
MIRT1245477	hsa-miR-548x	CLIP-seq
MIRT1245478	hsa-miR-549	CLIP-seq
MIRT1245456	hsa-miR-573	CLIP-seq
MIRT1245457	hsa-miR-584	CLIP-seq
MIRT1245459	hsa-miR-635	CLIP-seq
MIRT1245460	hsa-miR-647	CLIP-seq
MIRT1245461	hsa-miR-652	CLIP-seq
MIRT1245462	hsa-miR-654-3p	CLIP-seq
MIRT1245464	hsa-miR-761	CLIP-seq
MIRT1245465	hsa-miR-922	CLIP-seq
MIRT1245426	hsa-miR-1225-5p	CLIP-seq
MIRT1245429	hsa-miR-214	CLIP-seq
MIRT1245434	hsa-miR-3619-5p	CLIP-seq
MIRT2072618	hsa-miR-3647-3p	CLIP-seq
MIRT1245436	hsa-miR-3657	CLIP-seq
MIRT1245438	hsa-miR-4286	CLIP-seq
MIRT1245440	hsa-miR-4291	CLIP-seq
MIRT2072619	hsa-miR-4302	CLIP-seq
MIRT1245471	hsa-miR-4519	CLIP-seq
MIRT1245445	hsa-miR-4669	CLIP-seq
MIRT1245446	hsa-miR-4687-3p	CLIP-seq
MIRT1245452	hsa-miR-511	CLIP-seq
MIRT2072620	hsa-miR-548a-3p	CLIP-seq
MIRT2072621	hsa-miR-548e	CLIP-seq
MIRT2072622	hsa-miR-548f	CLIP-seq
MIRT1245457	hsa-miR-584	CLIP-seq
MIRT1245460	hsa-miR-647	CLIP-seq
MIRT1245462	hsa-miR-654-3p	CLIP-seq
MIRT1245464	hsa-miR-761	CLIP-seq
MIRT1245465	hsa-miR-922	CLIP-seq
MIRT2299763	hsa-miR-106a	CLIP-seq
MIRT2299764	hsa-miR-106b	CLIP-seq
MIRT1245426	hsa-miR-1225-5p	CLIP-seq
MIRT1245428	hsa-miR-136	CLIP-seq
MIRT1245466	hsa-miR-142-5p	CLIP-seq
MIRT2299765	hsa-miR-17	CLIP-seq
MIRT2299766	hsa-miR-20a	CLIP-seq
MIRT2299767	hsa-miR-20b	CLIP-seq
MIRT1245429	hsa-miR-214	CLIP-seq
MIRT1245430	hsa-miR-216a	CLIP-seq
MIRT2299768	hsa-miR-3126-5p	CLIP-seq
MIRT2299769	hsa-miR-3130-5p	CLIP-seq
MIRT2299770	hsa-miR-3173-3p	CLIP-seq
MIRT2299771	hsa-miR-3179	CLIP-seq
MIRT2299772	hsa-miR-3202	CLIP-seq
MIRT2299773	hsa-miR-3609	CLIP-seq
MIRT1245433	hsa-miR-3616-5p	CLIP-seq
MIRT1245434	hsa-miR-3619-5p	CLIP-seq
MIRT2072618	hsa-miR-3647-3p	CLIP-seq
MIRT1245435	hsa-miR-3647-5p	CLIP-seq
MIRT1245436	hsa-miR-3657	CLIP-seq
MIRT2299774	hsa-miR-3689a-3p	CLIP-seq
MIRT2299775	hsa-miR-3689c	CLIP-seq
MIRT2299776	hsa-miR-374c	CLIP-seq
MIRT2299777	hsa-miR-3936	CLIP-seq
MIRT2299778	hsa-miR-4261	CLIP-seq
MIRT2299779	hsa-miR-4265	CLIP-seq
MIRT1245438	hsa-miR-4286	CLIP-seq
MIRT1245440	hsa-miR-4291	CLIP-seq
MIRT2299780	hsa-miR-4296	CLIP-seq
MIRT2072619	hsa-miR-4302	CLIP-seq
MIRT2299781	hsa-miR-4322	CLIP-seq
MIRT2299782	hsa-miR-4428	CLIP-seq
MIRT2299783	hsa-miR-4476	CLIP-seq
MIRT2299784	hsa-miR-4482	CLIP-seq
MIRT2299785	hsa-miR-450b-5p	CLIP-seq
MIRT1245471	hsa-miR-4519	CLIP-seq
MIRT1245442	hsa-miR-4635	CLIP-seq
MIRT2299786	hsa-miR-4648	CLIP-seq
MIRT2299787	hsa-miR-4654	CLIP-seq
MIRT1245445	hsa-miR-4669	CLIP-seq
MIRT1245446	hsa-miR-4687-3p	CLIP-seq
MIRT2299788	hsa-miR-4694-3p	CLIP-seq
MIRT1245447	hsa-miR-4716-5p	CLIP-seq
MIRT2299789	hsa-miR-4728-5p	CLIP-seq
MIRT2299790	hsa-miR-4757-3p	CLIP-seq
MIRT1245448	hsa-miR-4762-5p	CLIP-seq
MIRT2299791	hsa-miR-4769-5p	CLIP-seq
MIRT1245450	hsa-miR-4795-5p	CLIP-seq
MIRT2299792	hsa-miR-4796-3p	CLIP-seq
MIRT2299793	hsa-miR-507	CLIP-seq
MIRT1245452	hsa-miR-511	CLIP-seq
MIRT2299794	hsa-miR-515-3p	CLIP-seq
MIRT2299795	hsa-miR-519d	CLIP-seq
MIRT2299796	hsa-miR-519e	CLIP-seq
MIRT2299797	hsa-miR-548ah	CLIP-seq
MIRT2299798	hsa-miR-548g	CLIP-seq
MIRT2299799	hsa-miR-548l	CLIP-seq
MIRT1245454	hsa-miR-548n	CLIP-seq
MIRT2299800	hsa-miR-555	CLIP-seq
MIRT2299801	hsa-miR-557	CLIP-seq
MIRT1245456	hsa-miR-573	CLIP-seq
MIRT2299802	hsa-miR-576-5p	CLIP-seq
MIRT1245457	hsa-miR-584	CLIP-seq
MIRT2299803	hsa-miR-629	CLIP-seq
MIRT1245459	hsa-miR-635	CLIP-seq
MIRT1245460	hsa-miR-647	CLIP-seq
MIRT1245462	hsa-miR-654-3p	CLIP-seq
MIRT2299804	hsa-miR-655	CLIP-seq
MIRT2299805	hsa-miR-711	CLIP-seq
MIRT1245464	hsa-miR-761	CLIP-seq
MIRT1245465	hsa-miR-922	CLIP-seq
MIRT2299806	hsa-miR-93	CLIP-seq
MIRT2392770	hsa-miR-1913	CLIP-seq
MIRT2392771	hsa-miR-3192	CLIP-seq
MIRT2392772	hsa-miR-324-3p	CLIP-seq
MIRT2392773	hsa-miR-4300	CLIP-seq
MIRT2392774	hsa-miR-4749-3p	CLIP-seq
MIRT2392775	hsa-miR-4793-3p	CLIP-seq
MIRT2392776	hsa-miR-920	CLIP-seq
MIRT1245436	hsa-miR-3657	CLIP-seq
MIRT1245438	hsa-miR-4286	CLIP-seq
MIRT1245445	hsa-miR-4669	CLIP-seq
MIRT1245446	hsa-miR-4687-3p	CLIP-seq
MIRT1245457	hsa-miR-584	CLIP-seq
MIRT1245460	hsa-miR-647	CLIP-seq
MIRT2596484	hsa-miR-1228	CLIP-seq
MIRT1245427	hsa-miR-1291	CLIP-seq
MIRT1245428	hsa-miR-136	CLIP-seq
MIRT2596485	hsa-miR-1910	CLIP-seq
MIRT1245430	hsa-miR-216a	CLIP-seq
MIRT2596486	hsa-miR-216b	CLIP-seq
MIRT2596487	hsa-miR-219-1-3p	CLIP-seq
MIRT2596488	hsa-miR-2909	CLIP-seq
MIRT2596489	hsa-miR-297	CLIP-seq
MIRT2596490	hsa-miR-3064-3p	CLIP-seq
MIRT2596491	hsa-miR-3161	CLIP-seq
MIRT2596492	hsa-miR-3170	CLIP-seq
MIRT2596493	hsa-miR-3190	CLIP-seq
MIRT1245431	hsa-miR-328	CLIP-seq
MIRT2596494	hsa-miR-329	CLIP-seq
MIRT2596495	hsa-miR-342-5p	CLIP-seq
MIRT1245433	hsa-miR-3616-5p	CLIP-seq
MIRT2596496	hsa-miR-362-3p	CLIP-seq
MIRT1245435	hsa-miR-3647-5p	CLIP-seq
MIRT1245436	hsa-miR-3657	CLIP-seq
MIRT2596497	hsa-miR-3668	CLIP-seq
MIRT2299776	hsa-miR-374c	CLIP-seq
MIRT2596498	hsa-miR-375	CLIP-seq
MIRT2596499	hsa-miR-3925-3p	CLIP-seq
MIRT2596500	hsa-miR-3977	CLIP-seq
MIRT2596501	hsa-miR-3978	CLIP-seq
MIRT2299778	hsa-miR-4261	CLIP-seq
MIRT2596502	hsa-miR-4278	CLIP-seq
MIRT1245438	hsa-miR-4286	CLIP-seq
MIRT1245439	hsa-miR-4290	CLIP-seq
MIRT1245441	hsa-miR-4326	CLIP-seq
MIRT2596503	hsa-miR-4423-5p	CLIP-seq
MIRT1245442	hsa-miR-4635	CLIP-seq
MIRT2596504	hsa-miR-4651	CLIP-seq
MIRT2596505	hsa-miR-4664-5p	CLIP-seq
MIRT1245445	hsa-miR-4669	CLIP-seq
MIRT1245446	hsa-miR-4687-3p	CLIP-seq
MIRT2596506	hsa-miR-4691-5p	CLIP-seq
MIRT1245447	hsa-miR-4716-5p	CLIP-seq
MIRT2596507	hsa-miR-4731-3p	CLIP-seq
MIRT1245448	hsa-miR-4762-5p	CLIP-seq
MIRT2596508	hsa-miR-4774-3p	CLIP-seq
MIRT1245450	hsa-miR-4795-5p	CLIP-seq
MIRT2596509	hsa-miR-4801	CLIP-seq
MIRT2596510	hsa-miR-515-5p	CLIP-seq
MIRT2596511	hsa-miR-532-3p	CLIP-seq
MIRT2299798	hsa-miR-548g	CLIP-seq
MIRT1245478	hsa-miR-549	CLIP-seq
MIRT2596512	hsa-miR-567	CLIP-seq
MIRT2596513	hsa-miR-571	CLIP-seq
MIRT1245456	hsa-miR-573	CLIP-seq
MIRT1245457	hsa-miR-584	CLIP-seq
MIRT1245458	hsa-miR-587	CLIP-seq
MIRT2596514	hsa-miR-608	CLIP-seq
MIRT2299803	hsa-miR-629	CLIP-seq
MIRT1245460	hsa-miR-647	CLIP-seq
MIRT2299804	hsa-miR-655	CLIP-seq
MIRT1245463	hsa-miR-663b	CLIP-seq
MIRT2596484	hsa-miR-1228	CLIP-seq
MIRT2688289	hsa-miR-1263	CLIP-seq
MIRT1245427	hsa-miR-1291	CLIP-seq
MIRT1245428	hsa-miR-136	CLIP-seq
MIRT2596485	hsa-miR-1910	CLIP-seq
MIRT1245430	hsa-miR-216a	CLIP-seq
MIRT2688290	hsa-miR-223	CLIP-seq
MIRT2596490	hsa-miR-3064-3p	CLIP-seq
MIRT2299768	hsa-miR-3126-5p	CLIP-seq
MIRT2299769	hsa-miR-3130-5p	CLIP-seq
MIRT2596493	hsa-miR-3190	CLIP-seq
MIRT1245431	hsa-miR-328	CLIP-seq
MIRT2596494	hsa-miR-329	CLIP-seq
MIRT1245433	hsa-miR-3616-5p	CLIP-seq
MIRT2596496	hsa-miR-362-3p	CLIP-seq
MIRT1245435	hsa-miR-3647-5p	CLIP-seq
MIRT1245436	hsa-miR-3657	CLIP-seq
MIRT2299774	hsa-miR-3689a-3p	CLIP-seq
MIRT2299775	hsa-miR-3689c	CLIP-seq
MIRT2299776	hsa-miR-374c	CLIP-seq
MIRT2596498	hsa-miR-375	CLIP-seq
MIRT2596499	hsa-miR-3925-3p	CLIP-seq
MIRT2596500	hsa-miR-3977	CLIP-seq
MIRT2596501	hsa-miR-3978	CLIP-seq
MIRT2299778	hsa-miR-4261	CLIP-seq
MIRT2299779	hsa-miR-4265	CLIP-seq
MIRT1245438	hsa-miR-4286	CLIP-seq
MIRT1245439	hsa-miR-4290	CLIP-seq
MIRT2299780	hsa-miR-4296	CLIP-seq
MIRT2299781	hsa-miR-4322	CLIP-seq
MIRT1245441	hsa-miR-4326	CLIP-seq
MIRT2299784	hsa-miR-4482	CLIP-seq
MIRT1245442	hsa-miR-4635	CLIP-seq
MIRT2299786	hsa-miR-4648	CLIP-seq
MIRT2299787	hsa-miR-4654	CLIP-seq
MIRT1245445	hsa-miR-4669	CLIP-seq
MIRT1245446	hsa-miR-4687-3p	CLIP-seq
MIRT2596506	hsa-miR-4691-5p	CLIP-seq
MIRT2688291	hsa-miR-4697-3p	CLIP-seq
MIRT1245447	hsa-miR-4716-5p	CLIP-seq
MIRT2299789	hsa-miR-4728-5p	CLIP-seq
MIRT2596507	hsa-miR-4731-3p	CLIP-seq
MIRT1245448	hsa-miR-4762-5p	CLIP-seq
MIRT2299791	hsa-miR-4769-5p	CLIP-seq
MIRT1245450	hsa-miR-4795-5p	CLIP-seq
MIRT2596509	hsa-miR-4801	CLIP-seq
MIRT2596510	hsa-miR-515-5p	CLIP-seq
MIRT2299798	hsa-miR-548g	CLIP-seq
MIRT1245456	hsa-miR-573	CLIP-seq
MIRT1245457	hsa-miR-584	CLIP-seq
MIRT1245458	hsa-miR-587	CLIP-seq
MIRT1245460	hsa-miR-647	CLIP-seq
MIRT2299804	hsa-miR-655	CLIP-seq
MIRT1245463	hsa-miR-663b	CLIP-seq
MIRT2299805	hsa-miR-711	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004623	Function	Phospholipase A2 activity	IDA	15364929
GO:0004623	Function	Phospholipase A2 activity	IEA
GO:0004806	Function	Triacylglycerol lipase activity	EXP	15364929, 17603008
GO:0004806	Function	Triacylglycerol lipase activity	IBA
GO:0004806	Function	Triacylglycerol lipase activity	IDA	15364929, 16150821, 17603008
GO:0004806	Function	Triacylglycerol lipase activity	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	26741492
GO:0005739	Component	Mitochondrion	IEA
GO:0005811	Component	Lipid droplet	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IBA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016411	Function	Acylglycerol O-acyltransferase activity	IDA	17603008
GO:0016787	Function	Hydrolase activity	IEA
GO:0019433	Process	Triglyceride catabolic process	IBA
GO:0019433	Process	Triglyceride catabolic process	TAS
GO:0042572	Process	Retinol metabolic process	IEA
GO:0047376	Function	All-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity	IEA
GO:0050253	Function	Retinyl-palmitate esterase activity	EXP	16741517, 17603008
GO:0050253	Function	Retinyl-palmitate esterase activity	IEA
GO:0051264	Function	Mono-olein transacylation activity	IDA	15364929
GO:0051265	Function	Diolein transacylation activity	IDA	15364929
GO:0055088	Process	Lipid homeostasis	IBA

MIM	HGNC	e!Ensembl
300102	24887	ENSG00000006757

P41247

Protein name

Patatin-like phospholipase domain-containing protein 4 (EC 3.1.1.3) (Calcium-independent phospholipase A2-eta) (iPLA2-eta) (EC 3.1.1.4) (Protein GS2)

Protein function

Has abundant triacylglycerol lipase activity (PubMed:15364929, PubMed:16150821, PubMed:17603008). Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides (PubMed:17603008).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01734	Patatin	6 → 175	Patatin-like phospholipase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen. {ECO:0000269|PubMed:7806223}.

Sequence

MKHINLSFAACGFLGIYHLGAASALCRHGKKLVKDVKAFAGASAGSLVASVLLTAPEKIE
ECNQFTYKFAEEIRRQSFGAVTPGYDFMARLRSGMESILPPSAHELAQNRLHVSITNAKT
RENHLVSTFSSREDLIKVLLASSFVPIYAGLKLVEYKGQKWVDGGLTNALPILPVGRTVT
ISPFSGRLDISPQDKGQLDLYVNIAKQDIMLSLANLVRLNQALFPPSKRKMESLYQCGFD
DTVKFLLKENWFE

Sequence length

253

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolic pathways		Triglyceride catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of neuronal migration	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PNPLA4-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia Hemolytic	Hemolytic anemia	Pubtator	36379544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36379544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37986381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	20138039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	36379544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29908350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	19030707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26741492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33531688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17609260	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PNPLA4 (patatin like domain 4, phospholipase and triacylglycerol lipase)