AiPD: Autoinhibited Protein Database

O60906

Gene name	SMPD2
Protein name	Sphingomyelin phosphodiesterase 2
Names	Lyso-platelet-activating factor-phospholipase C, Lyso-PAF-PLC, Neutral sphingomyelinase, N-SMase, nSMase, nSMase1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6610
EC number	3.1.4.12: Phosphoric diester hydrolases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

245-327 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

245-327 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for O60906

Entry ID	Method	Resolution	Chain	Position	Source
8J2F	EM	307 A	A/B	1-423	PDB
AF-O60906-F1	Predicted				AlphaFoldDB

390 variants for O60906

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA365212865 rs1252750760	3	P>A		No	ClinGen TOPMed
rs1048197 VAR_050305 CA3952146	3	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751177773 CA365212898	4	N>S		No	ClinGen ExAC TOPMed gnomAD
rs751177773 CA3952147	4	N>T		No	ClinGen ExAC TOPMed gnomAD
CA145112685 rs942180857	7	L>P		No	ClinGen Ensembl
TCGA novel	8	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3952151 rs752471965	8	R>Q		No	ClinGen ExAC gnomAD
CA365213073 rs1232137635	10	R>L		No	ClinGen gnomAD
CA365213076 rs1232137635	10	R>P		No	ClinGen gnomAD
rs756055563 CA3952152	10	R>W		No	ClinGen ExAC gnomAD
CA145112705 rs572510624	12	F>V		No	ClinGen TOPMed
rs1239678240 CA365213143	13	N>S		No	ClinGen TOPMed
rs1397125655 CA365213168	14	L>P		No	ClinGen gnomAD
CA365213188 rs1179903695	15	N>S		No	ClinGen TOPMed gnomAD
CA3952155 rs745963003	15	N>Y		No	ClinGen ExAC gnomAD
rs1445430589 CA365213228	16	C>G		No	ClinGen TOPMed
rs779974923 CA3952158	17	W>*		No	ClinGen ExAC gnomAD
CA365213392 rs1276762729	18	G>C		No	ClinGen TOPMed
CA3952185 rs138354272 COSM1544738	18	G>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed
rs758916713 CA3952186	20	P>L		No	ClinGen ExAC gnomAD
CA365213430 rs1366752958	20	P>T		No	ClinGen TOPMed
rs1297080005 CA365213482	22	L>M		No	ClinGen gnomAD
rs771737391 CA3952188	23	S>I		No	ClinGen ExAC TOPMed gnomAD
CA3952187 rs771737391	23	S>T		No	ClinGen ExAC TOPMed gnomAD
CA365213536 rs1416601505	24	K>R		No	ClinGen gnomAD
CA365213577 rs1390160022	25	H>Q		No	ClinGen TOPMed
CA145112880 rs933300386	26	R>P		No	ClinGen TOPMed gnomAD
CA145112877 rs933300386	26	R>Q		No	ClinGen TOPMed gnomAD
rs554984087 CA145112873	26	R>W		No	ClinGen Ensembl
rs540477686 CA3952190	27	A>S		No	ClinGen ExAC gnomAD
CA365213628 rs1301480148	28	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1421199974 CA365213639	29	R>C		No	ClinGen TOPMed
CA365213646 rs986261654	29	R>H		No	ClinGen gnomAD
rs986261654 CA145112894	29	R>L		No	ClinGen gnomAD
CA365213653 rs368993871	30	M>L		No	ClinGen ESP ExAC gnomAD
rs1285460556 CA365213673	30	M>R		No	ClinGen TOPMed gnomAD
CA3952192 rs368993871	30	M>V		No	ClinGen ESP ExAC gnomAD
rs1234171556 CA365213729	32	R>C		No	ClinGen TOPMed gnomAD
CA145112911 rs751672841	32	R>H		No	ClinGen ExAC gnomAD
CA3952194 rs751672841	32	R>L		No	ClinGen ExAC gnomAD
rs751672841 CA3952195	32	R>P		No	ClinGen ExAC gnomAD
rs1450502647 CA365213802	37	L>R		No	ClinGen TOPMed
rs1273154129 CA365213828	39	Q>*		No	ClinGen TOPMed
CA3952197 rs753006021	40	E>Q		No	ClinGen ExAC gnomAD
CA3952198 rs756379181	42	F>V		No	ClinGen ExAC TOPMed
rs1185897806 CA365213888	43	D>H		No	ClinGen gnomAD
CA365213891 rs1337049465	43	D>V		No	ClinGen TOPMed
rs757169176 CA3952199	44	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	49	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157508112 CA365213930	49	E>V		No	ClinGen TOPMed gnomAD
rs189970558 CA145113001	50	V>A		No	ClinGen 1000Genomes gnomAD
CA365213947 rs189970558	50	V>E		No	ClinGen 1000Genomes gnomAD
CA365213958 rs1302121287	52	S>R		No	ClinGen gnomAD
CA365213967 rs1324690312	53	E>K		No	ClinGen TOPMed
rs569904970 CA145113002	54	Q>*		No	ClinGen TOPMed gnomAD
rs906224392 CA145113004	56	F>S		No	ClinGen Ensembl
CA365213999 rs1231783102	57	Q>P		No	ClinGen TOPMed gnomAD
rs768577877 CA145113009	58	Y>C		No	ClinGen Ensembl
rs1226997762 CA365214020	60	R>I		No	ClinGen Ensembl
CA3952217 rs146435492	61	Q>*		No	ClinGen ESP ExAC gnomAD
TCGA novel	64	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469565720 CA365214054	65	P>L		No	ClinGen gnomAD
CA365214056 rs1191243970	66	T>A		No	ClinGen TOPMed gnomAD
rs779308551 CA3952220	67	Y>N		No	ClinGen ExAC gnomAD
CA3952221 rs746424969	68	P>A		No	ClinGen ExAC gnomAD
rs758894027 CA3952222	68	P>L		No	ClinGen ExAC gnomAD
CA365214069 rs746424969	68	P>S		No	ClinGen ExAC gnomAD
rs746449537 CA3952224	71	H>Q		No	ClinGen ExAC gnomAD
rs895443299 CA145113052	71	H>R		No	ClinGen TOPMed gnomAD
rs768368587 CA3952225	72	H>D		No	ClinGen ExAC gnomAD
rs1330896488 CA365214107	74	R>Q		No	ClinGen TOPMed
CA365214130 rs201742879 CA3952240	76	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768223930 CA145113246	77	I>V		No	ClinGen Ensembl
rs574959993 CA3952241	78	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3952242 rs746545283	79	G>V		No	ClinGen ExAC gnomAD
rs754405637 CA3952244	81	G>D		No	ClinGen ExAC TOPMed gnomAD
CA365214160 rs1422332629	81	G>S		No	ClinGen gnomAD
CA3952248 rs747802654	86	S>C		No	ClinGen ExAC gnomAD
CA365214202 rs1464364461	87	K>R		No	ClinGen TOPMed
rs1423416282 CA365214221	90	I>V		No	ClinGen TOPMed
CA365214231 rs1361428760	91	Q>R		No	ClinGen gnomAD
rs1376544070 CA365214240	92	E>G		No	ClinGen gnomAD
CA365214236 rs1283931172	92	E>K		No	ClinGen gnomAD
rs777774426 CA3952250	99	T>N		No	ClinGen ExAC gnomAD
CA365214288 rs1582625084	99	T>P		No	ClinGen Ensembl
rs749019877 CA3952251	101	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1435495057 CA365214304	102	G>S		No	ClinGen TOPMed
CA365214316 rs1582625150	103	Y>*		No	ClinGen Ensembl
CA3952253 rs771019189	104	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3952254 rs774393669	104	P>H		No	ClinGen ExAC gnomAD
rs771019189 CA145113310	104	P>S		No	ClinGen ExAC TOPMed gnomAD
rs377724058 CA3952255	105	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1582625190 CA365214322	105	Y>H		No	ClinGen Ensembl
rs377724058 CA3952256	105	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365214332 rs762009968 CA3952258	106	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3952257 rs540411173	106	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540411173 CA365214327	106	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770026020	107	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA365214356 rs1444050412	108	H>P		No	ClinGen gnomAD
CA365214364 rs763129686	109	H>L		No	ClinGen ExAC TOPMed gnomAD
CA3952281 rs763129686	109	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3952280 rs773381377	109	H>Y		No	ClinGen ExAC gnomAD
rs1400562660 CA365214371	110	G>A		No	ClinGen TOPMed
TCGA novel	110	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365214387 rs1273058423	112	W>*		No	ClinGen gnomAD
CA3952283 rs147234352	113	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs950901974 CA145113480	113	F>V		No	ClinGen Ensembl
rs760025551 CA3952284	115	G>E		No	ClinGen ExAC TOPMed gnomAD
CA365214415 rs1317533469	116	K>N		No	ClinGen gnomAD
CA365214417 rs1156936464	117	A>T		No	ClinGen TOPMed
rs767998776 CA3952285	118	V>A		No	ClinGen ExAC gnomAD
rs1194229976 CA365214424	118	V>L		No	ClinGen gnomAD
CA3952287 rs752158214	120	L>P		No	ClinGen ExAC gnomAD
CA365214445 rs1386116602	122	V>M		No	ClinGen TOPMed
CA365214451 rs1189310246	123	L>F		No	ClinGen TOPMed
CA3952291 rs148249164	124	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143991181 CA3952289	124	H>Y		No	ClinGen ESP TOPMed gnomAD
TCGA novel	126	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs958821502 CA145113502	127	G>D		No	ClinGen TOPMed gnomAD
rs200479641 CA3952292	128	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755356345 CA145113534	129	V>M		No	ClinGen TOPMed gnomAD
rs778919937 COSM1071967 CA3952295	132	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs745612674 CA3952296	133	Y>C		No	ClinGen ExAC gnomAD
rs527542501 CA145113541	133	Y>D		No	ClinGen Ensembl
CA365214521 rs1242217618	134	V>A		No	ClinGen TOPMed
rs1277334184 CA365214517	134	V>M		No	ClinGen gnomAD
rs141286402 CA3952299	135	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288680641 CA365214700	137	L>F		No	ClinGen gnomAD
rs777894066 CA3952319	139	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3952321 rs150792146 COSM3697437	140	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs756935410 CA365214761	141	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1250833569 COSM3766886 CA365214757	141	Y>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs958851182 CA145114671	142	N>H		No	ClinGen TOPMed
CA3952323 rs746245730	142	N>S		No	ClinGen ExAC gnomAD
CA3952324 rs772540942	143	R>*		No	ClinGen ExAC gnomAD
CA3952326 rs761334019	143	R>L		No	ClinGen ExAC TOPMed gnomAD
CA145114703 rs761334019	143	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1218492098 CA365214808	145	K>*		No	ClinGen TOPMed
rs1562282614 CA365214845	147	I>T		No	ClinGen Ensembl
rs1335031177 CA365214851	148	Y>N		No	ClinGen gnomAD
rs1447653860 CA365214878	150	A>P		No	ClinGen gnomAD
rs1308562208 CA365214885	150	A>V		No	ClinGen TOPMed gnomAD
CA365214887 rs373981313	151	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373981313 CA3952329	151	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534167199 COSM1071968 CA3952330	152	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3952331 rs750130057	152	R>H		No	ClinGen ExAC gnomAD
rs757965173 CA3952332	153	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757965173 CA365214913	153	V>M		No	ClinGen ExAC TOPMed gnomAD
rs766252676 CA3952333	155	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA365214973 rs1455661675	157	W>C		No	ClinGen TOPMed gnomAD
CA365214964 rs1362471884	157	W>R		No	ClinGen gnomAD
CA365214984 rs1477389795	158	E>G		No	ClinGen TOPMed
rs1177488662 CA365215001	159	L>F		No	ClinGen gnomAD
rs754911895 CA3952336	159	L>V		No	ClinGen ExAC TOPMed gnomAD
CA365215040 rs1159434514	162	F>S		No	ClinGen gnomAD
rs753933319 CA3952337	163	I>V		No	ClinGen ExAC gnomAD
rs1390299919 CA365215061	164	H>D		No	ClinGen gnomAD
CA365215068 rs1434396600	164	H>R		No	ClinGen gnomAD
rs772782363 CA3952366	166	T>R		No	ClinGen ExAC TOPMed gnomAD
CA3952368 rs770634693	172	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773951194 CA365215275	173	V>F		No	ClinGen ExAC TOPMed gnomAD
rs773951194 CA3952369	173	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752488194 CA3952372	176	C>G		No	ClinGen ExAC TOPMed gnomAD
CA145114900 rs1026306499	180	N>S		No	ClinGen Ensembl
CA365215357 rs1384610033	181	M>I		No	ClinGen gnomAD
CA365215403 rs1422813336	184	E>D		No	ClinGen gnomAD
CA3952373 rs760670467	185	D>E		No	ClinGen ExAC gnomAD
TCGA novel	185	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3952374 rs763882960	187	G>D		No	ClinGen ExAC gnomAD
CA3952377 rs766537434	191	L>P		No	ClinGen ExAC gnomAD
rs755236939 CA3952379	194	W>*		No	ClinGen ExAC gnomAD
TCGA novel	195	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145945933 CA3952380	195	T>I		No	ClinGen ESP ExAC gnomAD
rs1282219665 CA365215557	196	G>E		No	ClinGen TOPMed
rs1465154482 CA365215566 COSM1071969	197	L>F	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1241655864 CA365215582	198	H>R		No	ClinGen gnomAD
CA145114942 rs377048168	199	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952382 rs377048168	199	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952384 rs778089121	200	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1417289444 CA365215620	201	Y>C		No	ClinGen TOPMed
rs748856852 CA3952385	202	L>P		No	ClinGen ExAC gnomAD
TCGA novel	204	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3952386 rs770465934	204	T>S		No	ClinGen ExAC gnomAD
CA145114957 rs143277071	205	R>P		No	ClinGen ESP TOPMed gnomAD
rs143277071 CA145114958	205	R>Q		No	ClinGen ESP TOPMed gnomAD
rs139839878 CA3952387	205	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs745589570 CA3952388	206	D>Y		No	ClinGen ExAC
rs575016330 CA145115068	209	G>C		No	ClinGen ExAC TOPMed gnomAD
rs771739094 CA3952406	209	G>D		No	ClinGen ExAC gnomAD
rs575016330 CA3952405	209	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3952407 rs774967187	211	E>K		No	ClinGen ExAC gnomAD
rs552418365 CA145115085	212	E>K		No	ClinGen 1000Genomes
CA3952409 rs768387558	213	G>D		No	ClinGen ExAC gnomAD
TCGA novel	215	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365216080 rs1368169955	216	M>T		No	ClinGen gnomAD
CA3952410 rs776474841	216	M>V		No	ClinGen ExAC gnomAD
CA3952411 rs761908038	219	K>*		No	ClinGen ExAC gnomAD
rs761908038 CA365216136	219	K>E		No	ClinGen ExAC gnomAD
rs781417866 CA145115094	220	N>K		No	ClinGen gnomAD
CA365216171 rs1260961171	220	N>T		No	ClinGen gnomAD
rs1258938854 CA365216200	221	C>F		No	ClinGen gnomAD
rs765198399 CA3952412	221	C>G		No	ClinGen ExAC gnomAD
rs531649765 CA3952415	223	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs9386806 CA145115103	223	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM150150 VAR_050306 rs9386806 CA3952414	223	V>I	pancreas stomach [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3952416 rs752898309	224	S>I		No	ClinGen ExAC gnomAD
CA3952417 rs760926993	225	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1427553043 CA365216309	226	Q>R		No	ClinGen gnomAD
rs764420972 CA3952418	229	K>*		No	ClinGen ExAC
rs145532915 CA3952419	229	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs942529390 CA145115126	232	P>L		No	ClinGen Ensembl
CA145115127 rs1038132659	235	V>G		No	ClinGen Ensembl
CA365216457 rs1395284204	235	V>I		No	ClinGen gnomAD
CA3952420 rs368023431	236	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3952421 rs148979626	236	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs148979626 CA3952422	236	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA365216490 rs1255954382	237	I>V		No	ClinGen TOPMed gnomAD
rs1350416367 CA365216523	238	D>E		No	ClinGen gnomAD
TCGA novel	238	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757943867 CA3952423	239	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA365216529 rs1213360472	239	Y>H		No	ClinGen TOPMed
rs142939267 CA3952426	240	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142939267 CA3952425	240	V>M	Variant assessed as Somatic; 0.0004622 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs151113109 CA3952427	242	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1178585336 CA365216722	244	A>T		No	ClinGen Ensembl
CA3952447 rs769748782	244	A>V		No	ClinGen ExAC gnomAD
CA365216778 rs1582630359	247	G>E		No	ClinGen Ensembl
rs368724627 CA3952452	250	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952450 rs1554224273	250	I>T		No	ClinGen Ensembl
CA365216829 rs1373461130	250	I>V		No	ClinGen gnomAD
rs775449957 CA365216859	252	C>F		No	ClinGen ExAC TOPMed gnomAD
rs775449957 CA3952453	252	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA3952456 rs768794675	254	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA365216909 rs1183521856	255	F>L		No	ClinGen TOPMed
CA365216947 rs1489563927	258	T>I		No	ClinGen TOPMed
CA365216948 rs1489563927	258	T>S		No	ClinGen TOPMed
CA3952459 rs199811581	259	T>I		No	ClinGen 1000Genomes ExAC TOPMed
CA3952463 rs766849769	263	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3952462 rs763372308	263	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3952465 VAR_024181 rs1476387	265	R>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365216998 rs1460562775	266	G>D		No	ClinGen gnomAD
rs752443805 CA3952467	266	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3952470 rs755811619	267	T>I		No	ClinGen ExAC TOPMed gnomAD
CA365217007 rs372703708	268	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372703708 CA3952471	268	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757166861 CA3952473	269	L>F		No	ClinGen ExAC gnomAD
rs757166861 CA365217011	269	L>I		No	ClinGen ExAC gnomAD
TCGA novel	269	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368758735 CA365217022	270	S>P		No	ClinGen TOPMed
rs778874244 CA3952474	271	D>G		No	ClinGen ExAC gnomAD
rs745765827 CA3952475	275	L>M		No	ClinGen ExAC TOPMed gnomAD
rs768830624 CA3952476	275	L>P		No	ClinGen ExAC gnomAD
CA3952479 rs776679404	280	F>L		No	ClinGen ExAC gnomAD
CA3952480 rs367809431	281	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs766825537 CA3952485	285	P>H		No	ClinGen ExAC gnomAD
rs371622966 CA3952484	285	P>S		No	ClinGen ESP ExAC gnomAD
CA3952489 rs376841752	286	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376841752 CA3952488	286	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs376841752 CA3952487	286	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA365217342 rs1480699315	287	Q>*		No	ClinGen gnomAD
rs763758360	287	Q>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3952490 rs755829989	288	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA365217401 rs1247480034	291	S>T		No	ClinGen TOPMed
rs1248364948 CA365217416	293	T>I		No	ClinGen gnomAD
CA365217411 rs1582630845	293	T>P		No	ClinGen Ensembl
rs948745294 CA3952513	295	G>E		No	ClinGen TOPMed gnomAD
rs369042085 CA3952492	295	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403519704 CA365217443	296	P>S		No	ClinGen gnomAD
rs1393202227 CA365217455	298	E>*		No	ClinGen TOPMed gnomAD
rs999668567 CA145115483	299	R>G		No	ClinGen gnomAD
CA3952516 rs760225512	299	R>K		No	ClinGen ExAC gnomAD
rs763669299 CA3952517	300	S>L		No	ClinGen ExAC TOPMed gnomAD
rs753580309 CA3952518	301	P>L		No	ClinGen ExAC TOPMed gnomAD
CA365217489 CA365217491 rs1357131620	303	M>I		No	ClinGen TOPMed gnomAD
CA145115486 rs369526207	305	V>M		No	ClinGen ESP
CA365217510 rs146318470	307	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3952520 rs146318470	307	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1467078227 CA365217518	308	E>*		No	ClinGen TOPMed
rs1485418645 CA365217523	308	E>D		No	ClinGen gnomAD
rs758346779 CA3952522	309	A>D		No	ClinGen ExAC gnomAD
CA365217534 rs1259883042	310	W>*		No	ClinGen gnomAD
rs1017978492 CA145115502	310	W>R		No	ClinGen TOPMed gnomAD
CA3952523 rs779916324	311	T>M		No	ClinGen ExAC gnomAD
rs1478055027 CA365217547	312	E>G		No	ClinGen TOPMed
rs1423220341 CA365217554	313	L>P		No	ClinGen gnomAD
CA3952524 rs752803453	314	G>D		No	ClinGen ExAC gnomAD
rs141606933 CA3952526	316	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768133766 CA3952527	317	M>V		No	ClinGen ExAC gnomAD
CA3952528 rs771050964	321	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3952529 rs555352630	321	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3952530 rs555352630	321	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA365217653 rs1380495375	323	W>*		No	ClinGen gnomAD
CA3952531 rs772740639	324	A>T		No	ClinGen ExAC gnomAD
rs776183356 CA3952532	325	T>I		No	ClinGen ExAC gnomAD
rs150426800 CA3952533	326	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3952535 rs541359217 COSM1226896	327	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3952536 rs200878366	327	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764741055 CA3952537	328	S>N		No	ClinGen ExAC gnomAD
CA145115543 rs928552239	330	V>M		No	ClinGen Ensembl
rs766130112 CA3952540	336	L>V		No	ClinGen ExAC gnomAD
CA365217937 rs751547078	341	L>P		No	ClinGen ExAC gnomAD
CA3952541 rs751547078	341	L>R		No	ClinGen ExAC gnomAD
rs1400526396 CA365217950	342	C>Y		No	ClinGen gnomAD
rs754891794 CA3952542	345	A>E		No	ClinGen ExAC TOPMed gnomAD
rs754891794 CA365218005	345	A>G		No	ClinGen ExAC TOPMed gnomAD
rs754891794 CA3952543	345	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA365218015 rs1582631662	346	A>G		No	ClinGen Ensembl
rs753789671 CA3952546	347	G>E		No	ClinGen ExAC gnomAD
CA365218028 rs1415035088	347	G>R		No	ClinGen TOPMed
rs1403633075 CA365218042	348	G>E		No	ClinGen TOPMed
CA145115556 rs1056116349	348	G>R		No	ClinGen Ensembl
CA365218049 rs1443708544	349	G>R		No	ClinGen gnomAD
CA365218067 rs1194155098	350	A>D		No	ClinGen TOPMed gnomAD
CA365218068 rs1194155098	350	A>G		No	ClinGen TOPMed gnomAD
CA3952549 rs746059256	350	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3952551 rs780557054	351	G>R		No	ClinGen ExAC gnomAD
CA365218093 rs1582631797	352	E>G		No	ClinGen Ensembl
rs1180177266 CA365218089	352	E>K		No	ClinGen TOPMed
rs1582631813 CA365218103	353	A>P		No	ClinGen Ensembl
CA365218116 rs1323992232	354	A>T		No	ClinGen gnomAD
CA365218138 rs1231595701	355	I>M		No	ClinGen TOPMed
rs1471354536 CA365218127	355	I>V		No	ClinGen TOPMed
rs199709653 CA3952552	356	L>P		No	ClinGen 1000Genomes ExAC
rs1181638817 CA365218156	357	L>P		No	ClinGen TOPMed
CA3952554 rs144721755	359	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3952555 rs144721755	359	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769515544 CA3952556	360	P>A		No	ClinGen ExAC
rs772779104 CA145115568	361	S>I		No	ClinGen ExAC TOPMed gnomAD
rs772779104 CA3952557	361	S>N		No	ClinGen ExAC TOPMed gnomAD
rs762569663 CA3952558	362	V>I		No	ClinGen ExAC gnomAD
CA3952559 CA365218229 rs766220319	363	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1448595279 CA365218235	363	G>V		No	ClinGen TOPMed
CA365218226 rs766220319	363	G>W		No	ClinGen ExAC TOPMed gnomAD
CA365218242 rs1175322591	365	V>M		No	ClinGen gnomAD
CA3952561 rs759470361	367	W>*		No	ClinGen ExAC gnomAD
CA365218259 rs1342220342	367	W>*		No	ClinGen TOPMed
rs767297551 CA3952562	368	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3952564 rs757322959	370	A>E		No	ClinGen ExAC gnomAD
rs374354570 CA3952563	370	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765338995 CA3952565	371	F>L		No	ClinGen ExAC TOPMed gnomAD
rs201176900 CA145115612	371	F>L		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	373	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA145115613 rs760116144	374	F>L		No	ClinGen Ensembl
CA145115614 rs999700975	375	H>D		No	ClinGen gnomAD
CA3952566 rs182773753	375	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3952568 COSM1196045 rs375681696	376	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA3952570 rs755534779	377	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA365218433 rs1260186970	378	E>*		No	ClinGen TOPMed
rs1304776648 CA365218441	378	E>V		No	ClinGen TOPMed gnomAD
CA365218457 rs1485380365	379	V>D		No	ClinGen TOPMed
rs1437309118 CA365218452	379	V>I		No	ClinGen gnomAD
rs748654475 CA3952573	380	N>H		No	ClinGen ExAC gnomAD
rs769233794 CA3952574	380	N>K		No	ClinGen ExAC
CA3952572 rs748314482	380	N>R		No	ClinGen ExAC
rs1271651127 CA365218474	380	N>S		No	ClinGen gnomAD
CA365218489 rs1490626028	381	G>D		No	ClinGen gnomAD
rs138101236 CA3952576	383	Y>C		No	ClinGen ESP ExAC gnomAD
CA3952575 rs772692685	383	Y>H		No	ClinGen ExAC gnomAD
CA145115648 rs995111319	386	Q>P		No	ClinGen TOPMed
CA365218543 rs1222429226	388	E>K		No	ClinGen gnomAD
rs1167995328 CA365218561	390	Q>R		No	ClinGen gnomAD
rs548350838 CA145115651	391	H>D		No	ClinGen 1000Genomes
CA3952577 rs770502958	391	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1407692589 CA365218580	393	L>R		No	ClinGen gnomAD
CA3952579 rs188686624	394	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365218598 rs1301006123	396	A>V		No	ClinGen TOPMed gnomAD
rs1469863478 CA365218608	398	E>K		No	ClinGen TOPMed gnomAD
CA365218619 rs1270972829	399	A>V		No	ClinGen gnomAD
TCGA novel	401	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA145115654 rs914698841	401	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA365218629 rs914698841	401	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3952583 rs527648546	402	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3952582 rs374708897	402	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs750468743 CA3952584	403	G>D		No	ClinGen ExAC TOPMed gnomAD
CA145115670 rs1039637664	403	G>S		No	ClinGen TOPMed
rs1241127724 CA365218650	405	E>A		No	ClinGen gnomAD
CA3952586 rs766662275	405	E>Q		No	ClinGen ExAC gnomAD
CA3952587 rs752006489	407	Q>H		No	ClinGen ExAC gnomAD
rs1184852797 CA365218669	408	P>S		No	ClinGen gnomAD
rs755334939 CA3952588	409	A>D		No	ClinGen ExAC gnomAD
CA365218683 rs1178738923	410	L>P		No	ClinGen gnomAD
CA365218685 rs1408377642	411	L>F		No	ClinGen gnomAD
CA365218702 rs1475172155	414	Q>E		No	ClinGen TOPMed
rs756635265 CA3952593 CA365218725	417	G>R		No	ClinGen ExAC gnomAD
CA365218730 rs1433017305	418	D>N		No	ClinGen gnomAD
CA3952594 rs368060103	420	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs770590754 CA3952596	420	T>I		No	ClinGen ExAC gnomAD
rs368060103 CA3952595	420	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs778495234 CA3952597	422	E>K		No	ClinGen ExAC gnomAD
rs745514590 CA3952598	423	Q>*		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O60906

1 regional properties for O60906

Type	Name	Position	InterPro Accession
domain	Endonuclease/exonuclease/phosphatase	15 - 248	IPR005135

Functions

		Description
EC Number	3.1.4.12	Phosphoric diester hydrolases
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cell periphery	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
phospholipase activity	Catalysis of the hydrolysis of a glycerophospholipid.
phosphoric diester hydrolase activity	Catalysis of the hydrolysis of a phosphodiester to give a phosphomonoester and a free hydroxyl group.
sphingomyelin phosphodiesterase activity	Catalysis of the reaction: H(2)O + sphingomyelin = ceramide + choline phosphate + H(+).

4 GO annotations of biological process

Name	Definition
ceramide biosynthetic process	The chemical reactions and pathways resulting in the formation of ceramides, any N-acylated sphingoid.
sphingolipid catabolic process	The chemical reactions and pathways resulting in the breakdown of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).
sphingomyelin catabolic process	The chemical reactions and pathways resulting in the breakdown of sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine.
sphingomyelin metabolic process	The chemical reactions and pathways involving sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine, any of a class of phospholipids in which the amino group of sphingosine is in amide linkage with one of several fatty acids, while the terminal hydroxyl group of sphingosine is esterified to phosphorylcholine.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O45870	T27F6.6	Putative neutral sphingomyelinase	Caenorhabditis elegans	PR

10	20	30	40	50	60
MKPNFSLRLR	IFNLNCWGIP	YLSKHRADRM	RRLGDFLNQE	SFDLALLEEV	WSEQDFQYLR
70	80	90	100	110	120
QKLSPTYPAA	HHFRSGIIGS	GLCVFSKHPI	QELTQHIYTL	NGYPYMIHHG	DWFSGKAVGL
130	140	150	160	170	180
LVLHLSGMVL	NAYVTHLHAE	YNRQKDIYLA	HRVAQAWELA	QFIHHTSKKA	DVVLLCGDLN
190	200	210	220	230	240
MHPEDLGCCL	LKEWTGLHDA	YLETRDFKGS	EEGNTMVPKN	CYVSQQELKP	FPFGVRIDYV
250	260	270	280	290	300
LYKAVSGFYI	SCKSFETTTG	FDPHRGTPLS	DHEALMATLF	VRHSPPQQNP	SSTHGPAERS
310	320	330	340	350	360
PLMCVLKEAW	TELGLGMAQA	RWWATFASYV	IGLGLLLLAL	LCVLAAGGGA	GEAAILLWTP
370	380	390	400	410	420
SVGLVLWAGA	FYLFHVQEVN	GLYRAQAELQ	HVLGRAREAQ	DLGPEPQPAL	LLGQQEGDRT

KEQ