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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10908
Gene name	Patatin like domain 6, lysophospholipase
Gene symbol	PNPLA6
Synonyms (NCBI Gene)	BNHSLNMSNTENTEMNDOMCSSPG39iPLA2deltasws
Chromosome	19
Chromosome location	19p13.2
Summary	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

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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

224

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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

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

1423

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ataxia-hypogonadism-choroidal dystrophy syndrome	Likely pathogenic; Pathogenic	rs2146091582, rs2023847365, rs2023921392, rs370033046, rs587777181, rs606231249, rs587777182, rs587777183, rs541098659, rs587777615, rs587777853, rs587777854, rs786201037, rs121434415, rs606231167, rs374434303, rs148045000 View all (2 more)	RCV001647171 RCV001647173 RCV001647172 RCV001647196 RCV000087297 RCV000087298 RCV000087299 RCV000087300 RCV001559127 RCV000133462 RCV000144694 RCV000144695 RCV001559129 RCV001559128 RCV001559126 RCV001643137 RCV004596409
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs1057518936, rs374434303	RCV000415321 RCV000414761
Cerebellar atrophy	Likely pathogenic; Pathogenic	rs374434303	RCV000415064
Dysarthria	Likely pathogenic; Pathogenic	rs1057518936, rs374434303	RCV000415321 RCV000414761
Gait ataxia	Likely pathogenic; Pathogenic	rs374434303	RCV000415064
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs370033046, rs781364197, rs606231167	RCV001847242 RCV001848571 RCV001847592
Hereditary spastic paraplegia 39	Likely pathogenic; Pathogenic	rs370033046, rs866964055, rs606231249, rs2146099465, rs587777181, rs587777182, rs587777185, rs541098659, rs2146051234, rs1395700335, rs773955314, rs2146110600, rs1568408269, rs1416173690, rs772913881 View all (61 more)	RCV001384731 RCV001352232 RCV001389254 RCV001384188 RCV001854508 RCV002515780 RCV000087302 RCV001859389 RCV001917080 RCV001895519 RCV002015442 RCV001889812 RCV001889568 RCV002000047 RCV001986806 RCV001906315 RCV001967728 RCV001962983 RCV001902571 RCV001895414 RCV001863396 RCV003114288 RCV002283751 RCV001242294 RCV002515124 RCV003073019 RCV002599437 RCV002608336 RCV002720370 RCV002755664 RCV002857996 RCV002953767 RCV003021714 RCV000006984 RCV000006985 RCV000006986 RCV003052239 RCV003388198 RCV003388199 RCV003444188 RCV003508285 RCV003508890 RCV003506806 RCV003506927 RCV003508875 RCV003507030 RCV003507948 RCV003618597 RCV003618569 RCV003617579 RCV003617580 RCV003618974 RCV003618943 RCV003828064 RCV003835300 RCV003860810 RCV001861448 RCV000462018 RCV000554262 RCV000525529 RCV000539525 RCV000690203 RCV000692309 RCV002549287 RCV001059737 RCV001059736 RCV001049696 RCV001054280 RCV001071910 RCV001041912 RCV002555963 RCV001205703 RCV001208614 RCV001240898 RCV003617919 RCV001391538 RCV001391539
Hypogonadism with anosmia	Pathogenic	rs2146123001	RCV001526642
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic; Pathogenic	rs1057518936, rs374434303	RCV000415321 RCV000414761
Laurence-Moon syndrome	Likely pathogenic; Pathogenic	rs370033046, rs2146090036, rs606231167, rs1211079280	RCV005411718 RCV000162355 RCV000162351 RCV005359812
PNPLA6-related disorder	Pathogenic; Likely pathogenic	rs606231167, rs2512497880, rs374434303	RCV000779272 RCV004529291 RCV003235202
Retinal dystrophy	Likely pathogenic; Pathogenic	rs142422525, rs606231167, rs148045000	RCV004815256 RCV004814850 RCV004813755
Rod-cone dystrophy	Pathogenic	rs2146108245	RCV001376229
Sarcoma	Likely pathogenic	rs1490826010	RCV005901094
Spastic ataxia	Pathogenic; Likely pathogenic	rs1568403627, rs780995803	RCV001647150 RCV001647158
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Likely pathogenic; Pathogenic	rs370033046, rs587777182, rs142422525, rs786201037, rs606231167, rs1211079280	RCV005411718 RCV001196947 RCV000162353 RCV000162354 RCV000162350 RCV005359812

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1555751016, rs1555751600	-
Acute myeloid leukemia	Benign; Likely benign	rs113264142, rs117630756	RCV005895641 RCV005897974
Amenorrhea	Uncertain significance	rs140568070	RCV001849475
Amyotrophic lateral sclerosis	Uncertain significance	rs150620708, rs768107851	RCV001095519 RCV001095520
Cerebellar ataxia-hypogonadism syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs2512532022, rs1057517802	RCV003994663 RCV005429017
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs113264142, rs773889167, rs370676290	RCV005895642 RCV005931311 RCV005912479
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs368637145	RCV005894884
Familial cancer of breast	Uncertain significance	rs200413993	RCV005913832
Gastric cancer	Conflicting classifications of pathogenicity; Benign	rs760573469, rs117630756	RCV005925627 RCV005897979
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs760573469	RCV005925626
Lung cancer	Uncertain significance	rs768145824	RCV005926718
Malignant lymphoma, large B-cell, diffuse	Benign	rs117630756	RCV005897977
Malignant tumor of esophagus	Benign	rs117630756	RCV005897975
Marfanoid habitus and intellectual disability	Uncertain significance	rs777837588	RCV000850447
Nonpapillary renal cell carcinoma	Uncertain significance	rs1420322286	RCV005927067
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs117630756, rs553944725	RCV005897980 RCV005896868
Peripheral neuropathy	Uncertain significance	rs372193709	RCV000449492
Peripheral precocious puberty	Uncertain significance	rs2146036792	RCV001374434
Spastic Paraplegia, Recessive	Uncertain significance	rs886054699	RCV000370716
Thymoma	Benign; Uncertain significance	rs117630756, rs745677326	RCV005897982 RCV005901952
Uterine carcinosarcoma	Benign	rs117630756	RCV005897981
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs7248476, rs113264142	RCV005916274 RCV005895643
Uveal melanoma	Benign	rs117630756	RCV005897976

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)