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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10908
Gene name Gene Name - the full gene name approved by the HGNC.	Patatin like domain 6, lysophospholipase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PNPLA6
Synonyms (NCBI Gene) Gene synonyms aliases	BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the c

Show/Hide all(33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434415	A>G	Pathogenic	Coding sequence variant, missense variant
rs121434416	G>A	Pathogenic	Coding sequence variant, missense variant
rs142422525	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs145988230	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374434303	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs568356836	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777181	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777182	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777183	T>C	Pathogenic	Coding sequence variant, missense variant
rs587777184	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777185	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777615	G>T	Pathogenic	Coding sequence variant, missense variant
rs587777853	->G	Pathogenic	Frameshift variant, coding sequence variant
rs587777854	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs606231167	->AGCC	Pathogenic	Frameshift variant, coding sequence variant
rs606231249	G>C,T	Pathogenic	Splice acceptor variant
rs756542477	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs756591718	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs757382473	->T	Pathogenic	Frameshift variant, coding sequence variant
rs761591000	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765221332	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs773955314	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs786201037	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517802	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057518107	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518936	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1060502664	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1490826010	G>A	Likely-pathogenic	Splice donor variant
rs1555749683	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555751016	G>T	Pathogenic	Coding sequence variant, missense variant
rs1555751597	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555751600	G>C	Pathogenic	Coding sequence variant, missense variant
rs1599305317	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

Show/Hide all(224)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005264	hsa-miR-16-5p	pSILAC	18668040
MIRT018654	hsa-miR-335-5p	Microarray	18185580
MIRT025538	hsa-miR-34a-5p	Proteomics	21566225
MIRT027172	hsa-miR-103a-3p	Sequencing	20371350
MIRT005264	hsa-miR-16-5p	Sequencing	20371350
MIRT005264	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT470791	hsa-miR-1321	PAR-CLIP	23592263
MIRT470790	hsa-miR-4739	PAR-CLIP	23592263
MIRT470789	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT470788	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT470787	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT470786	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT470784	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT470785	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT470783	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT470782	hsa-miR-4419a	PAR-CLIP	23592263
MIRT470781	hsa-miR-4510	PAR-CLIP	23592263
MIRT470780	hsa-miR-6127	PAR-CLIP	23592263
MIRT470779	hsa-miR-6129	PAR-CLIP	23592263
MIRT470778	hsa-miR-6130	PAR-CLIP	23592263
MIRT470777	hsa-miR-6133	PAR-CLIP	23592263
MIRT470776	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT470775	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT470774	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT470773	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT470772	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT470770	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT470771	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT470769	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT470768	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT470767	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT470766	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT470765	hsa-miR-4651	PAR-CLIP	23592263
MIRT470764	hsa-miR-608	PAR-CLIP	23592263
MIRT470762	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT470763	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT470761	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT470760	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT470759	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT470758	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT470757	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT470756	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT470755	hsa-miR-3689c	PAR-CLIP	23592263
MIRT470754	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT470753	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT082987	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT082985	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT005264	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT082988	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT082990	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT082989	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT083008	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT470752	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT470751	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT470750	hsa-miR-646	PAR-CLIP	23592263
MIRT083004	hsa-miR-6165	PAR-CLIP	23592263
MIRT083001	hsa-miR-4779	PAR-CLIP	23592263
MIRT082998	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT083005	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT082986	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT082994	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT082991	hsa-miR-761	PAR-CLIP	23592263
MIRT082995	hsa-miR-4459	PAR-CLIP	23592263
MIRT470749	hsa-miR-610	PAR-CLIP	23592263
MIRT082999	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT083000	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT083003	hsa-miR-5698	PAR-CLIP	23592263
MIRT083009	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT083010	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT083006	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT082996	hsa-miR-4524a-5p	PAR-CLIP	23592263
MIRT083002	hsa-miR-4524b-5p	PAR-CLIP	23592263
MIRT470791	hsa-miR-1321	PAR-CLIP	23592263
MIRT470790	hsa-miR-4739	PAR-CLIP	23592263
MIRT470789	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT470788	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT470787	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT470786	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT470784	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT470785	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT470783	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT470782	hsa-miR-4419a	PAR-CLIP	23592263
MIRT470781	hsa-miR-4510	PAR-CLIP	23592263
MIRT470780	hsa-miR-6127	PAR-CLIP	23592263
MIRT470779	hsa-miR-6129	PAR-CLIP	23592263
MIRT470778	hsa-miR-6130	PAR-CLIP	23592263
MIRT470777	hsa-miR-6133	PAR-CLIP	23592263
MIRT470776	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT470775	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT470774	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT470773	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT470772	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT470770	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT470771	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT470769	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT470768	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT470767	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT470766	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT470765	hsa-miR-4651	PAR-CLIP	23592263
MIRT470764	hsa-miR-608	PAR-CLIP	23592263
MIRT470762	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT470763	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT470761	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT470760	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT470759	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT470758	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT470757	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT470756	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT470755	hsa-miR-3689c	PAR-CLIP	23592263
MIRT470754	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT470753	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT082987	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT082985	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT005264	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT082988	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT082990	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT082989	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT083008	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT470752	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT470751	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT470750	hsa-miR-646	PAR-CLIP	23592263
MIRT083004	hsa-miR-6165	PAR-CLIP	23592263
MIRT083001	hsa-miR-4779	PAR-CLIP	23592263
MIRT082998	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT083005	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT082986	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT082994	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT082991	hsa-miR-761	PAR-CLIP	23592263
MIRT082995	hsa-miR-4459	PAR-CLIP	23592263
MIRT470749	hsa-miR-610	PAR-CLIP	23592263
MIRT082999	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT083000	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT083003	hsa-miR-5698	PAR-CLIP	23592263
MIRT083009	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT083010	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT083006	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT082996	hsa-miR-4524a-5p	PAR-CLIP	23592263
MIRT083002	hsa-miR-4524b-5p	PAR-CLIP	23592263
MIRT1245495	hsa-miR-361-3p	CLIP-seq
MIRT1920779	hsa-miR-130a	CLIP-seq
MIRT1920780	hsa-miR-130b	CLIP-seq
MIRT1920781	hsa-miR-141	CLIP-seq
MIRT1920782	hsa-miR-148a	CLIP-seq
MIRT1920783	hsa-miR-148b	CLIP-seq
MIRT1920784	hsa-miR-152	CLIP-seq
MIRT1920785	hsa-miR-200a	CLIP-seq
MIRT1920786	hsa-miR-301a	CLIP-seq
MIRT1920787	hsa-miR-301b	CLIP-seq
MIRT1920788	hsa-miR-3666	CLIP-seq
MIRT1920789	hsa-miR-4295	CLIP-seq
MIRT1920790	hsa-miR-454	CLIP-seq
MIRT1920779	hsa-miR-130a	CLIP-seq
MIRT1920780	hsa-miR-130b	CLIP-seq
MIRT1920781	hsa-miR-141	CLIP-seq
MIRT1920782	hsa-miR-148a	CLIP-seq
MIRT1920783	hsa-miR-148b	CLIP-seq
MIRT1920784	hsa-miR-152	CLIP-seq
MIRT1920785	hsa-miR-200a	CLIP-seq
MIRT1920786	hsa-miR-301a	CLIP-seq
MIRT1920787	hsa-miR-301b	CLIP-seq
MIRT1920788	hsa-miR-3666	CLIP-seq
MIRT1920789	hsa-miR-4295	CLIP-seq
MIRT1920790	hsa-miR-454	CLIP-seq
MIRT1920779	hsa-miR-130a	CLIP-seq
MIRT1920780	hsa-miR-130b	CLIP-seq
MIRT1920781	hsa-miR-141	CLIP-seq
MIRT1920782	hsa-miR-148a	CLIP-seq
MIRT1920783	hsa-miR-148b	CLIP-seq
MIRT1920784	hsa-miR-152	CLIP-seq
MIRT1920785	hsa-miR-200a	CLIP-seq
MIRT1920786	hsa-miR-301a	CLIP-seq
MIRT1920787	hsa-miR-301b	CLIP-seq
MIRT1920788	hsa-miR-3666	CLIP-seq
MIRT1920789	hsa-miR-4295	CLIP-seq
MIRT1920790	hsa-miR-454	CLIP-seq
MIRT2299812	hsa-miR-147	CLIP-seq
MIRT2299813	hsa-miR-15a	CLIP-seq
MIRT2299814	hsa-miR-15b	CLIP-seq
MIRT2299815	hsa-miR-16	CLIP-seq
MIRT2299816	hsa-miR-1825	CLIP-seq
MIRT2299817	hsa-miR-1910	CLIP-seq
MIRT2299818	hsa-miR-195	CLIP-seq
MIRT2299819	hsa-miR-199a-5p	CLIP-seq
MIRT2299820	hsa-miR-199b-5p	CLIP-seq
MIRT2299821	hsa-miR-214	CLIP-seq
MIRT2299822	hsa-miR-3648	CLIP-seq
MIRT2299823	hsa-miR-3911	CLIP-seq
MIRT2299824	hsa-miR-424	CLIP-seq
MIRT2299825	hsa-miR-4265	CLIP-seq
MIRT2299826	hsa-miR-4296	CLIP-seq
MIRT2299827	hsa-miR-4302	CLIP-seq
MIRT2299828	hsa-miR-4322	CLIP-seq
MIRT2299829	hsa-miR-4417	CLIP-seq
MIRT2299830	hsa-miR-4524	CLIP-seq
MIRT2299831	hsa-miR-4787-5p	CLIP-seq
MIRT2299832	hsa-miR-497	CLIP-seq
MIRT2299833	hsa-miR-503	CLIP-seq
MIRT2299834	hsa-miR-513a-5p	CLIP-seq
MIRT2299835	hsa-miR-644	CLIP-seq
MIRT2299812	hsa-miR-147	CLIP-seq
MIRT2299813	hsa-miR-15a	CLIP-seq
MIRT2299814	hsa-miR-15b	CLIP-seq
MIRT2299815	hsa-miR-16	CLIP-seq
MIRT2299816	hsa-miR-1825	CLIP-seq
MIRT2299817	hsa-miR-1910	CLIP-seq
MIRT2299818	hsa-miR-195	CLIP-seq
MIRT2299819	hsa-miR-199a-5p	CLIP-seq
MIRT2299820	hsa-miR-199b-5p	CLIP-seq
MIRT2299821	hsa-miR-214	CLIP-seq
MIRT2299822	hsa-miR-3648	CLIP-seq
MIRT2299823	hsa-miR-3911	CLIP-seq
MIRT2299824	hsa-miR-424	CLIP-seq
MIRT2299825	hsa-miR-4265	CLIP-seq
MIRT2299826	hsa-miR-4296	CLIP-seq
MIRT2299827	hsa-miR-4302	CLIP-seq
MIRT2299828	hsa-miR-4322	CLIP-seq
MIRT2299829	hsa-miR-4417	CLIP-seq
MIRT2299830	hsa-miR-4524	CLIP-seq
MIRT2392777	hsa-miR-4736	CLIP-seq
MIRT2299831	hsa-miR-4787-5p	CLIP-seq
MIRT2299832	hsa-miR-497	CLIP-seq
MIRT2299833	hsa-miR-503	CLIP-seq
MIRT2299834	hsa-miR-513a-5p	CLIP-seq
MIRT2299835	hsa-miR-644	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	EXP	12514188, 15044461
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IBA
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IEA
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046470	Process	Phosphatidylcholine metabolic process	IEA
GO:0046475	Process	Glycerophospholipid catabolic process	TAS

MIM	HGNC	e!Ensembl
603197	16268	ENSG00000032444

Protein

UniProt ID

Q8IY17

Protein name

Patatin-like phospholipase domain-containing protein 6 (EC 3.1.1.5) (Neuropathy target esterase)

Protein function

Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00027	cNMP_binding	213 → 308	Cyclic nucleotide-binding domain	Domain
PF00027	cNMP_binding	530 → 619	Cyclic nucleotide-binding domain	Domain
PF00027	cNMP_binding	647 → 735	Cyclic nucleotide-binding domain	Domain
PF01734	Patatin	981 → 1147	Patatin-like phospholipase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain. {ECO:0000269|PubMed:25480986, ECO:0000269|PubMed:9576844}.

Sequence

MEAPLQTGMMGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLG
VMIGAGVAVVVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTS
SLVDTSVSATSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANS
HLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLL
ELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEA
FSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTR
TSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVS
MPGDISGLQGGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYS
YCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIA
RQGDQDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQR
DCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQG
DRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTEL
AKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPAS
NLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSG
WLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRA
LKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRR
ADRHSDFSRLARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIG
ALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIE
DLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINN
LPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQ
SRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRG
NVIEKMLTDRRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDC
LTEYEEDAGPDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA

Sequence length

1375

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism		Glycerophospholipid catabolism

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	ataxia-hypogonadism-choroidal dystrophy syndrome	rs587777615, rs587777853, rs587777854, rs148045000, rs606231167, rs587777181, rs606231249, rs786201037, rs587777182, rs374434303, rs587777183, rs121434415	N/A
Hereditary spastic paraplegia	Hereditary spastic paraplegia 39	rs587777185, rs1060502664, rs1167314561, rs121434416, rs1490826010, rs2023231095, rs606231167, rs1555749683, rs148045000, rs1555751597, rs587777854, rs756542477, rs142422525, rs756591718, rs587777181 View all (9 more)	N/A
Laurence-Moon Syndrome	laurence-moon syndrome	rs606231167	N/A
retinal dystrophy	Retinal dystrophy	rs148045000, rs142422525	N/A

Show/Hide Unknown Diseases (7)

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.
Amyotrophic Lateral Sclerosis	amyotrophic lateral sclerosis	N/A	N/A	ClinVar
Cerebellar Ataxia-Hypogonadism Syndrome	cerebellar ataxia-hypogonadism syndrome	N/A	N/A	GenCC
Hypogonadism	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	N/A	N/A	GenCC
Peripheral Neuropathy	peripheral neuropathy	N/A	N/A	ClinVar
Rod-cone dystrophy	rod-cone dystrophy	N/A	N/A	ClinVar
Spastic paraplegia	Spastic Paraplegia, Recessive	N/A	N/A	ClinVar
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	trichomegaly-retina pigmentary degeneration-dwarfism syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Angina Unstable	Associate	35947152
Ataxia	Associate	25267340, 26995604, 29248984
Cardiovascular Diseases	Associate	37828521
Cerebellar Ataxia	Associate	26995604, 29248984
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	24355708, 33141049
Cerebellar Diseases	Associate	29749493, 35947152
Chorioretinal Dystrophy Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	24355708, 25267340, 29749493, 30015775, 33141049, 36541585
Chorioretinitis	Associate	30015775
Choroideremia	Associate	33141049
Colorectal Neoplasms	Associate	30231850
Diabetes Mellitus Type 2	Associate	37828521
Gait Ataxia	Associate	25267340
Heredodegenerative Disorders Nervous System	Associate	20603202, 34103343
Hypogonadism	Associate	24355708, 25267340, 29248984, 29749493, 35947152
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
Laurence Moon Syndrome	Associate	33141049
Monocyte Esterase Deficiency	Associate	20382209, 20603202, 21171093
Motor Neuron Disease	Associate	18313024, 20382209, 20603202, 21171093
Nerve Degeneration	Associate	11927584, 21171093, 23517531, 33141049
Nervous System Diseases	Associate	18313024, 23517531, 34103343
Neurodegenerative Diseases	Associate	21171093, 24355708
Neurotoxicity Syndromes	Associate	20382209, 21171093
Oculomotor Nerve Diseases	Associate	35947152
Oliver McFarlane syndrome	Associate	29248984, 33141049
Organophosphate Poisoning	Associate	18313024, 21171093
Paraplegia	Associate	33141049, 35947152
Pre Eclampsia	Associate	29428958
Preeclamptic toxemia	Inhibit	29428958
Retinal Degeneration	Associate	29749493
Retinal Dystrophies	Associate	33141049
Retinitis	Associate	25267340
Spastic Ataxia	Associate	24355708
Spastic paraplegia 20 autosomal recessive	Associate	18313024
Spastic Paraplegia Hereditary	Associate	24355708, 26995604, 29248984
Spinocerebellar Degenerations	Associate	29749493
Vision Disorders	Associate	25267340

PNPLA6 (patatin like domain 6, lysophospholipase)