AiPD: Autoinhibited Protein Database

Q96G23

Gene name	CERS2
Protein name	Ceramide synthase 2
Names	CerS2, LAG1 longevity assurance homolog 2, SP260, Sphingosine N-acyltransferase CERS2, Tumor metastasis-suppressor gene 1 protein, Very-long-chain ceramide synthase CERS2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29956
EC number	2.3.1.24: Transferring groups other than amino-acyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

47-152 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

47-152 (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

1 structures for Q96G23

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96G23-F1	Predicted				AlphaFoldDB

270 variants for Q96G23

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000850470 rs1571673661 CA342355078	120	R>C	Marfanoid habitus and intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342355851 rs1341491464	2	L>F		No	ClinGen gnomAD
rs1413539514 CA342355841	3	Q>H		No	ClinGen gnomAD
rs1047468709 CA30215718	5	L>S		No	ClinGen Ensembl
rs587599921 CA1082716	8	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA342355810 rs1365559474	8	Y>N		No	ClinGen TOPMed
CA342355807 rs587599921	8	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1401401112 CA342355802	9	F>V		No	ClinGen TOPMed gnomAD
CA1082715 rs755542926	11	W>R		No	ClinGen ExAC TOPMed gnomAD
CA1082714 COSM895654 rs587718634	13	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA342355768 rs587718634	13	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1162682868 CA342355751	16	L>V		No	ClinGen gnomAD
CA1082712 rs758570199	17	P>A		No	ClinGen ExAC gnomAD
rs1248714857 CA342355706	23	A>S		No	ClinGen TOPMed
CA342355701 rs1448884967	23	A>V		No	ClinGen TOPMed
rs761475757 CA1082709	24	D>N		No	ClinGen ExAC TOPMed gnomAD
CA342355680 rs1163601840	27	D>N		No	ClinGen TOPMed
rs1204828874 CA342355671	28	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763960752 CA1082707	28	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs920258823 CA30215620	29	D>E		No	ClinGen Ensembl
CA342355657 rs1322385190	30	G>A		No	ClinGen TOPMed
rs140031607 CA1082706	31	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA342355653 rs1231928169	31	R>H		No	ClinGen gnomAD
rs775469750 CA1082705	32	V>D		No	ClinGen ExAC gnomAD
rs376632374 CA1082704	34	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA30215597 rs927448069	35	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs587598434 CA1082703	36	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA342355621 rs1387049760	36	A>V		No	ClinGen gnomAD
rs773830077 CA30215595	39	L>F		No	ClinGen ExAC gnomAD
CA1082702 rs773830077	39	L>I		No	ClinGen ExAC gnomAD
rs770652690 CA1082701	40	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1082699 rs372038919	41	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1082700 rs372038919	41	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs769203608 CA1082698	42	T>M		No	ClinGen ExAC TOPMed gnomAD
rs747515401 CA1082697	44	P>L		No	ClinGen ExAC gnomAD
rs1203437686 CA342355578	44	P>S		No	ClinGen TOPMed
rs1452413951 CA342355559	47	L>F		No	ClinGen gnomAD
TCGA novel	48	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342355548 rs1212236458	49	F>Y		No	ClinGen gnomAD
CA342355537 rs1443203312	51	I>V		No	ClinGen TOPMed
rs770395474 CA1082693	52	V>I		No	ClinGen ExAC TOPMed gnomAD
CA342355509 rs1336863710	55	F>Y		No	ClinGen TOPMed gnomAD
CA342355464 rs1171993423	60	V>M		No	ClinGen TOPMed gnomAD
CA342355456 rs1434406202	61	A>S		No	ClinGen gnomAD
rs1381231498 CA342355453	61	A>V		No	ClinGen gnomAD
CA1082668 rs757391669	62	T>I		No	ClinGen ExAC TOPMed gnomAD
CA342355447 rs1232837768	63	P>T		No	ClinGen TOPMed gnomAD
CA342355434 rs1188915788	65	A>S		No	ClinGen gnomAD
rs974751010 CA30214984	66	A>T		No	ClinGen Ensembl
rs749478909 CA1082667	66	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342355424 rs1277660694	67	L>I		No	ClinGen TOPMed gnomAD
CA342355415 rs1384519947	68	L>F		No	ClinGen gnomAD
CA342355401 rs1346689327	70	I>M		No	ClinGen TOPMed
rs752571939 CA1082664	70	I>T		No	ClinGen ExAC TOPMed gnomAD
rs587675608 CA1082665	70	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs767295486 CA1082663	73	K>T		No	ClinGen ExAC gnomAD
rs754959756 CA1082662	74	T>I		No	ClinGen ExAC TOPMed gnomAD
rs751511570 CA1082661	75	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA342355371 rs1284685209	75	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1289608458 CA342355365	76	L>P		No	ClinGen TOPMed gnomAD
rs587616340 CA1082658	77	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
COSM1582195 rs762594291 CA1082659	77	R>W	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs765004344 CA1082657	79	P>L		No	ClinGen ExAC gnomAD
CA342355345 rs1194312617	80	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA30214864 rs376195861	80	P>S		No	ClinGen gnomAD
CA1082656 rs148236098	81	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342355335 rs1571674255 COSM1472591	82	A>T	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1082654 rs772376778	82	A>V		No	ClinGen ExAC gnomAD
CA1082652 rs774758719	84	L>W		No	ClinGen ExAC gnomAD
CA1082650 rs749389205	86	H>D		No	ClinGen ExAC gnomAD
rs777928416 CA1082649 COSM675514	88	Y>C	lung Variant assessed as Somatic; 0.0001848 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1316104292 CA342355271	92	G>S		No	ClinGen gnomAD
rs1420733089 CA342355259	93	K>N		No	ClinGen gnomAD
rs1571674189 CA342355256	94	Q>E		No	ClinGen Ensembl
CA342355250 rs1290412238	94	Q>H		No	ClinGen gnomAD
CA342355253 rs1191954263	94	Q>R		No	ClinGen gnomAD
CA1082646 rs146940612	96	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA342355243 rs146940612	96	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs756755798 CA1082621	98	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1459461270 CA342355216	98	V>L		No	ClinGen TOPMed
rs1315717528 CA342355204	99	E>D		No	ClinGen TOPMed
CA342355207 rs1226624664	99	E>G		No	ClinGen TOPMed gnomAD
CA342355210 rs1385304607	99	E>Q		No	ClinGen TOPMed
rs926080852 CA30214356	100	V>I		No	ClinGen TOPMed gnomAD
rs753503885 CA1082620	102	L>F		No	ClinGen ExAC gnomAD
CA342355171 rs147756777	105	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147756777 CA1082617	105	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1082618 rs759901901	105	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1461014349 CA342355167	106	Q>*		No	ClinGen gnomAD
rs899212532 CA30214294	106	Q>H		No	ClinGen TOPMed gnomAD
CA30214281 rs1036369299	107	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763440395 CA1082615	108	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1179050593 CA342355149	109	L>I		No	ClinGen gnomAD
CA342355142 rs1571673757	110	S>P		No	ClinGen Ensembl
rs1486553086 CA342355134	111	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1248288911 CA342355131	112	R>C		No	ClinGen gnomAD
CA1082614 rs773777883	112	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	113	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_052325 rs267738 CA1082611	115	E>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA342355107 rs987811216	115	E>D		No	ClinGen gnomAD
rs267738 CA1082612	115	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1082610 rs768792533	116	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1082609 rs185209926	116	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1082608 rs779980418	119	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1571673653 CA342355076	120	R>P		No	ClinGen Ensembl
rs1396796705 CA342355074	121	R>C		No	ClinGen gnomAD
rs1391378844 CA342355071	121	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1558032533 CA342355066	122	R>C		No	ClinGen Ensembl
CA342355065 rs1355471060	122	R>H	Variant assessed as Somatic; 5.69e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772059536 CA1082607	124	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs772059536 CA342355054	124	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA1082606 rs745766843	126	R>Q		No	ClinGen ExAC gnomAD
CA30214190 rs1026573426	128	S>R		No	ClinGen gnomAD
rs1312635871 CA342355014	130	L>F		No	ClinGen TOPMed
rs1373959393 CA342355006	131	K>R		No	ClinGen TOPMed
rs779040680 CA1082605	134	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA342354985 rs1158285707	134	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs368360022 CA30214185	136	A>T		No	ClinGen ESP TOPMed
CA342354970 rs1461937354	136	A>V		No	ClinGen gnomAD
TCGA novel	139	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1082577 rs765709413	142	F>V		No	ClinGen ExAC gnomAD
CA1082576 rs757719800	145	I>T		No	ClinGen ExAC gnomAD
CA342354891 rs1294535630	146	A>D		No	ClinGen gnomAD
CA342354884 rs1441324302	147	F>S		No	ClinGen TOPMed gnomAD
rs1440212048 CA342354874	148	I>M		No	ClinGen TOPMed
CA342354868 rs1396469431	149	A>V		No	ClinGen gnomAD
CA30213869 rs867975007	150	G>D		No	ClinGen Ensembl
CA1082574 rs764050063	150	G>S		No	ClinGen ExAC TOPMed gnomAD
rs760883877 CA1082573	151	M>L		No	ClinGen ExAC gnomAD
CA342354845 rs1306649467	153	V>G		No	ClinGen TOPMed
rs149315209 CA1082571	153	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774026194 CA1082569	156	D>N		No	ClinGen ExAC gnomAD
TCGA novel	157	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374297994 CA1082553	158	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA342354802 rs1190734828	158	P>S		No	ClinGen TOPMed
rs759815286 CA30213721	160	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1053959967 CA30213701	161	Y>S		No	ClinGen TOPMed
rs762857759 CA1082549	163	M>I		No	ClinGen ExAC
CA1082550 rs142698152	163	M>L		No	ClinGen ESP ExAC gnomAD
rs142698152 CA342354768	163	M>V		No	ClinGen ESP ExAC gnomAD
rs772977125 CA1082548	164	K>E		No	ClinGen ExAC TOPMed gnomAD
CA342354752 rs1184664527	165	K>E		No	ClinGen gnomAD
TCGA novel	165	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342354726 rs1435550142	168	E>A		No	ClinGen gnomAD
rs370622852 CA30213627	172	I>M		No	ClinGen ESP TOPMed gnomAD
rs148487744 CA1082546	172	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1571672749 CA342354673	174	S>R		No	ClinGen Ensembl
rs768132524 CA1082524	176	I>L		No	ClinGen ExAC TOPMed gnomAD
rs768132524 CA1082523	176	I>V		No	ClinGen ExAC TOPMed gnomAD
CA342354646 rs1233940539	179	Q>*		No	ClinGen gnomAD
CA342354622 rs1447654638	182	Y>H		No	ClinGen gnomAD
CA342354604 rs1571672697	184	M>T		No	ClinGen Ensembl
rs749555667 CA1082519	184	M>V		No	ClinGen ExAC gnomAD
CA342354593 rs1320706497	185	I>M		No	ClinGen TOPMed gnomAD
rs770345018 CA1082517	190	Y>C		No	ClinGen ExAC gnomAD
rs771824277 CA1082516	192	S>Y		No	ClinGen ExAC gnomAD
CA342354536 rs1303639690	194	L>F		No	ClinGen TOPMed
rs199945675 CA1082515	196	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780710247 CA1082514	197	I>M		No	ClinGen ExAC TOPMed gnomAD
CA30213232 rs1042153516	201	V>I		No	ClinGen TOPMed gnomAD
rs1464303489 CA342354477 COSM895650	203	R>*	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1273712260 CA342354476	203	R>Q		No	ClinGen gnomAD
TCGA novel	204	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342354360 rs1571672339	217	I>M		No	ClinGen Ensembl
rs942003952 CA30212981 COSM423797	217	I>V	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1393017371 CA342354355	218	I>T		No	ClinGen TOPMed
CA342354346 rs1355832020	220	I>V		No	ClinGen gnomAD
rs777240993 CA342354336	221	S>N		No	ClinGen ExAC gnomAD
CA1082496 rs777240993	221	S>T		No	ClinGen ExAC gnomAD
rs1403262134 CA342354321	223	S>F		No	ClinGen TOPMed
CA342354304 rs1319831034	225	F>C		No	ClinGen TOPMed
TCGA novel	225	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395390637 CA342354298	226	A>D		No	ClinGen gnomAD
CA30212953 rs771524565	226	A>T		No	ClinGen gnomAD
CA30212943 rs751067365	227	N>H		No	ClinGen Ensembl
CA1082494 rs148999400	227	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs780171742 CA1082493	229	I>L		No	ClinGen ExAC gnomAD
rs1480999768 CA342354275	230	R>*		No	ClinGen gnomAD
rs1430419135 CA342354274	230	R>Q		No	ClinGen TOPMed
rs1234682447 CA342354266	231	A>V		No	ClinGen gnomAD
CA342354252 rs1571672231	234	L>V		No	ClinGen Ensembl
rs746066772 CA1082491	235	I>V		No	ClinGen ExAC gnomAD
TCGA novel	250	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1030877928 CA30212504	254	Y>C		No	ClinGen Ensembl
CA1082459 rs751123315	255	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1486768032 CA342354061	258	K>N		No	ClinGen gnomAD
CA342354052 rs1571671869	260	T>P		No	ClinGen Ensembl
rs202178142 CA1082455	263	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1206123548 CA342354018	264	I>N		No	ClinGen gnomAD
rs1206123548 CA342354020	264	I>T		No	ClinGen gnomAD
rs776023878 CA1082453	265	F>S		No	ClinGen ExAC gnomAD
CA1082452 rs369491663	266	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149992226 CA1082450	267	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342353990 rs1295903061	269	A>T		No	ClinGen gnomAD
rs769585113 CA1082446	270	I>T		No	ClinGen ExAC gnomAD
CA1082447 rs777902570	270	I>V		No	ClinGen ExAC TOPMed gnomAD
CA342353966 rs778175041	272	F>L		No	ClinGen ExAC gnomAD
TCGA novel	273	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1082444 rs781122228	274	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1082443 rs754983538	275	T>S		No	ClinGen ExAC TOPMed gnomAD
rs949301986 CA30212342	276	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	283	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA30212136 rs986402550	283	W>C		No	ClinGen Ensembl
CA1082415 rs753590439	286	H>R		No	ClinGen ExAC gnomAD
rs1571671462 CA342353860	288	T>P		No	ClinGen Ensembl
rs755382987 CA1082413	293	L>V		No	ClinGen ExAC TOPMed gnomAD
CA30212029 rs1030573972	295	L>F		No	ClinGen Ensembl
rs752011069 CA1082412	296	Y>C		No	ClinGen ExAC gnomAD
rs908471330 CA30212028	296	Y>H		No	ClinGen TOPMed gnomAD
CA1082411 rs766905816	297	P>R		No	ClinGen ExAC gnomAD
TCGA novel	298	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329651025 CA342353796	298	A>V		No	ClinGen gnomAD
CA342353769 rs1411857406	302	Y>C		No	ClinGen gnomAD
CA30211974 rs759099593	303	Y>*		No	ClinGen Ensembl
CA342353737 rs1307717608	306	N>S		No	ClinGen gnomAD
rs1487084082 CA342353724	308	M>T		No	ClinGen TOPMed
rs773183257 CA1082409	308	M>V		No	ClinGen ExAC gnomAD
CA342353702 rs1427780435	311	V>I		No	ClinGen TOPMed gnomAD
rs761166508 CA1082408	318	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1082407 rs761938175	319	W>R		No	ClinGen ExAC gnomAD
CA342353636 rs1190619694	321	Y>C		No	ClinGen TOPMed
rs776953068 CA1082406	321	Y>H		No	ClinGen ExAC gnomAD
CA30211942 rs184134274	325	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs1274283883 CA342353610	325	R>H		No	ClinGen TOPMed gnomAD
rs1347158511 CA342353596	327	A>T		No	ClinGen TOPMed
rs1298589032 CA342353585	328	H>Q		No	ClinGen TOPMed
rs1199759420 CA342353564	331	I>M		No	ClinGen gnomAD
rs746824537 CA1082404	331	I>T		No	ClinGen ExAC TOPMed gnomAD
CA30211936 rs142260553	331	I>V		No	ClinGen ESP TOPMed gnomAD
CA30211923 rs991304680	332	T>P		No	ClinGen TOPMed
rs1327447935 CA342353524	336	V>A		No	ClinGen gnomAD
CA342353515 rs1425529929	337	E>D		No	ClinGen TOPMed
rs1456115279 CA342353519	337	E>V		No	ClinGen gnomAD
rs1016420014 CA30211591	343	R>P		No	ClinGen Ensembl
rs1016420014 CA30211590	343	R>Q		No	ClinGen Ensembl
rs774392793 CA1082381	343	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1082379 rs748858848	347	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	348	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769453538 CA1082377	350	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1082376 rs376324977 CA1082375	351	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330319850 CA342353418	352	E>*		No	ClinGen TOPMed
TCGA novel	352	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464401662 CA342353404	354	A>T		No	ClinGen TOPMed gnomAD
CA1082371 rs779497928	355	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753978441 CA1082369	357	G>A		No	ClinGen ExAC TOPMed
CA1082370 rs757246256	357	G>R		No	ClinGen ExAC TOPMed gnomAD
CA342353380 rs1558031345	358	G>E		No	ClinGen Ensembl
rs1275685761 CA342353381	358	G>R		No	ClinGen TOPMed
CA1082368 rs144130462	359	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA30211470 rs969429316	360	A>G		No	ClinGen Ensembl
rs753008002 CA1082366	362	S>N		No	ClinGen ExAC TOPMed gnomAD
rs774113710 CA1082363	363	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1082364 rs138395828	363	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs762393823 CA342353343	365	L>V		No	ClinGen ExAC gnomAD
CA342353328 rs1347682176	367	N>S		No	ClinGen gnomAD
rs1410199283 CA342353305	370	P>L		No	ClinGen gnomAD
rs1571670712 CA342353304	371	I>L		No	ClinGen Ensembl
rs1166513857 CA342353293	372	L>P		No	ClinGen gnomAD
CA1082359 rs141621672	373	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780873258 CA1082357	375	N>S		No	ClinGen ExAC gnomAD
rs587657587 CA1082356	377	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA1082355 rs779228104	377	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779228104 CA342353259	377	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1082354 rs779228104	377	R>P		No	ClinGen ExAC TOPMed gnomAD
rs587657587 CA342353261	377	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1082353 rs757767614	378	K>R		No	ClinGen ExAC gnomAD
TCGA novel	380	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	380	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs955626155 CA30211366	380	D>Y		No	ClinGen TOPMed

No associated diseases with Q96G23

1 regional properties for Q96G23

Type	Name	Position	InterPro Accession
domain	FCP1 homology domain	247 - 399	IPR004274

Functions

		Description
EC Number	2.3.1.24	Transferring groups other than amino-acyl groups
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
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).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a 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.

3 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
N-acyltransferase activity	Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule.
sphingosine N-acyltransferase activity	Catalysis of the reaction: acyl-CoA + sphingosine = CoA + N-acylsphingosine.

6 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.
negative regulation of axon regeneration	Any process that stops, prevents, or reduces the frequency, rate or extent of axon regeneration.
negative regulation of Schwann cell migration	Any process that stops, prevents or reduces the frequency, rate or extent of Schwann cell migration.
negative regulation of Schwann cell proliferation involved in axon regeneration	Any process that stops, prevents or reduces the frequency, rate or extent of Schwann cell proliferation involved in axon regeneration.
regulation of lipid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids.
sphingolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38703	LAG1	Ceramide synthase LAG1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q5E9R6	CERS4	Ceramide synthase 4	Bos taurus (Bovine)	PR
Q3ZBF8	CERS2	Ceramide synthase 2	Bos taurus (Bovine)	PR
Q8IU89	CERS3	Ceramide synthase 3	Homo sapiens (Human)	PR
Q6ZMG9	CERS6	Ceramide synthase 6	Homo sapiens (Human)	PR
Q8N5B7	CERS5	Ceramide synthase 5	Homo sapiens (Human)	PR
Q9D6J1	Cers4	Ceramide synthase 4	Mus musculus (Mouse)	PR
Q9D6K9	Cers5	Ceramide synthase 5	Mus musculus (Mouse)	PR
Q8C172	Cers6	Ceramide synthase 6	Mus musculus (Mouse)	PR
Q924Z4	Cers2	Ceramide synthase 2	Mus musculus (Mouse)	PR
Q6YWS8	Os02g0728300	ASC1-like protein 2	Oryza sativa subsp japonica (Rice)	PR
G5ED45	hyl-1	Ceramide synthase hyl-1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MLQTLYDYFW	WERLWLPVNL	TWADLEDRDG	RVYAKASDLY	ITLPLALLFL	IVRYFFELYV
70	80	90	100	110	120
ATPLAALLNI	KEKTRLRAPP	NATLEHFYLT	SGKQPKQVEV	ELLSRQSGLS	GRQVERWFRR
130	140	150	160	170	180
RRNQDRPSLL	KKFREASWRF	TFYLIAFIAG	MAVIVDKPWF	YDMKKVWEGY	PIQSTIPSQY
190	200	210	220	230	240
WYYMIELSFY	WSLLFSIASD	VKRKDFKEQI	IHHVATIILI	SFSWFANYIR	AGTLIMALHD
250	260	270	280	290	300
SSDYLLESAK	MFNYAGWKNT	CNNIFIVFAI	VFIITRLVIL	PFWILHCTLV	YPLELYPAFF
310	320	330	340	350	360
GYYFFNSMMG	VLQLLHIFWA	YLILRMAHKF	ITGKLVEDER	SDREETESSE	GEEAAAGGGA
370
KSRPLANGHP	ILNNNHRKND