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	55304
Gene name	Serine palmitoyltransferase long chain base subunit 3
Gene symbol	SPTLC3
Synonyms (NCBI Gene)	C20orf38LCB 3LCB2BLCB3SPT 3SPT3SPTLC2LdJ718P11dJ718P11.1hLCB2b
Chromosome	20
Chromosome location	20p12.1
Summary	This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq,

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SNP ID	Visualize variation	Clinical significance	Consequence
rs755919784	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant

290

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030899	hsa-miR-21-5p	Microarray	18591254
MIRT720102	hsa-miR-1-3p	HITS-CLIP	19536157
MIRT720101	hsa-miR-206	HITS-CLIP	19536157
MIRT720100	hsa-miR-613	HITS-CLIP	19536157
MIRT720099	hsa-miR-6514-5p	HITS-CLIP	19536157
MIRT720098	hsa-miR-4772-3p	HITS-CLIP	19536157
MIRT720097	hsa-miR-2276-3p	HITS-CLIP	19536157
MIRT720096	hsa-miR-4534	HITS-CLIP	19536157
MIRT720095	hsa-miR-8082	HITS-CLIP	19536157
MIRT720094	hsa-miR-891b	HITS-CLIP	19536157
MIRT720093	hsa-miR-504-3p	HITS-CLIP	19536157
MIRT720092	hsa-miR-122-5p	HITS-CLIP	19536157
MIRT720091	hsa-miR-544a	HITS-CLIP	19536157
MIRT609925	hsa-miR-8485	HITS-CLIP	23313552
MIRT609924	hsa-miR-4643	HITS-CLIP	23313552
MIRT618215	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT618214	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT609923	hsa-miR-8064	HITS-CLIP	23313552
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT637039	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT637038	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT637037	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT637036	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT637035	hsa-miR-4262	HITS-CLIP	23824327
MIRT637034	hsa-miR-506-5p	HITS-CLIP	23824327
MIRT637033	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT637032	hsa-miR-1972	HITS-CLIP	23824327
MIRT637031	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT637030	hsa-miR-564	HITS-CLIP	23824327
MIRT637029	hsa-miR-4284	HITS-CLIP	23824327
MIRT637028	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT637027	hsa-miR-7977	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT625505	hsa-miR-662	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT625505	hsa-miR-662	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT618215	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT618214	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	27418678
MIRT618215	hsa-miR-642a-3p	HITS-CLIP	27418678
MIRT618214	hsa-miR-642b-3p	HITS-CLIP	27418678
MIRT609923	hsa-miR-8064	HITS-CLIP	27418678
MIRT609925	hsa-miR-8485	HITS-CLIP	27418678
MIRT720102	hsa-miR-1-3p	HITS-CLIP	19536157
MIRT720101	hsa-miR-206	HITS-CLIP	19536157
MIRT720100	hsa-miR-613	HITS-CLIP	19536157
MIRT720099	hsa-miR-6514-5p	HITS-CLIP	19536157
MIRT720098	hsa-miR-4772-3p	HITS-CLIP	19536157
MIRT720097	hsa-miR-2276-3p	HITS-CLIP	19536157
MIRT720096	hsa-miR-4534	HITS-CLIP	19536157
MIRT720095	hsa-miR-8082	HITS-CLIP	19536157
MIRT720094	hsa-miR-891b	HITS-CLIP	19536157
MIRT720093	hsa-miR-504-3p	HITS-CLIP	19536157
MIRT720092	hsa-miR-122-5p	HITS-CLIP	19536157
MIRT720091	hsa-miR-544a	HITS-CLIP	19536157
MIRT609925	hsa-miR-8485	HITS-CLIP	23313552
MIRT609924	hsa-miR-4643	HITS-CLIP	23313552
MIRT618215	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT618214	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT609923	hsa-miR-8064	HITS-CLIP	23313552
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT637039	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT637038	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT637037	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT637036	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT637035	hsa-miR-4262	HITS-CLIP	23824327
MIRT637034	hsa-miR-506-5p	HITS-CLIP	23824327
MIRT637033	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT637032	hsa-miR-1972	HITS-CLIP	23824327
MIRT637031	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT637030	hsa-miR-564	HITS-CLIP	23824327
MIRT637029	hsa-miR-4284	HITS-CLIP	23824327
MIRT637028	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT637027	hsa-miR-7977	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT625505	hsa-miR-662	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT625505	hsa-miR-662	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT618215	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT618214	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT609925	hsa-miR-8485	HITS-CLIP	23824327
MIRT609924	hsa-miR-4643	HITS-CLIP	23824327
MIRT609923	hsa-miR-8064	HITS-CLIP	23824327
MIRT1387297	hsa-miR-1182	CLIP-seq
MIRT1387298	hsa-miR-125a-5p	CLIP-seq
MIRT1387299	hsa-miR-125b	CLIP-seq
MIRT1387300	hsa-miR-197	CLIP-seq
MIRT1387301	hsa-miR-217	CLIP-seq
MIRT1387302	hsa-miR-3673	CLIP-seq
MIRT1387303	hsa-miR-371b-5p	CLIP-seq
MIRT1387304	hsa-miR-3942-3p	CLIP-seq
MIRT1387305	hsa-miR-4319	CLIP-seq
MIRT1387306	hsa-miR-4698	CLIP-seq
MIRT1387307	hsa-miR-4699-3p	CLIP-seq
MIRT1387308	hsa-miR-4732-3p	CLIP-seq
MIRT1387309	hsa-miR-4766-5p	CLIP-seq
MIRT1387310	hsa-miR-488	CLIP-seq
MIRT1387311	hsa-miR-5096	CLIP-seq
MIRT1387312	hsa-miR-659	CLIP-seq
MIRT1387313	hsa-miR-670	CLIP-seq
MIRT1387314	hsa-miR-888	CLIP-seq
MIRT2116011	hsa-miR-1193	CLIP-seq
MIRT2116012	hsa-miR-200b	CLIP-seq
MIRT2116013	hsa-miR-200c	CLIP-seq
MIRT1387301	hsa-miR-217	CLIP-seq
MIRT2116014	hsa-miR-3153	CLIP-seq
MIRT2116015	hsa-miR-429	CLIP-seq
MIRT2116016	hsa-miR-4418	CLIP-seq
MIRT2116017	hsa-miR-4668-5p	CLIP-seq
MIRT2116018	hsa-miR-4738-3p	CLIP-seq
MIRT2116019	hsa-miR-509-3-5p	CLIP-seq
MIRT2116020	hsa-miR-509-5p	CLIP-seq
MIRT2116021	hsa-miR-595	CLIP-seq
MIRT1387297	hsa-miR-1182	CLIP-seq
MIRT1387298	hsa-miR-125a-5p	CLIP-seq
MIRT1387299	hsa-miR-125b	CLIP-seq
MIRT2338481	hsa-miR-181a	CLIP-seq
MIRT2338482	hsa-miR-181b	CLIP-seq
MIRT2338483	hsa-miR-181c	CLIP-seq
MIRT2338484	hsa-miR-181d	CLIP-seq
MIRT2338485	hsa-miR-2053	CLIP-seq
MIRT2338486	hsa-miR-30a	CLIP-seq
MIRT2338487	hsa-miR-30b	CLIP-seq
MIRT2338488	hsa-miR-30c	CLIP-seq
MIRT2338489	hsa-miR-30d	CLIP-seq
MIRT2338490	hsa-miR-30e	CLIP-seq
MIRT2338491	hsa-miR-3185	CLIP-seq
MIRT2338492	hsa-miR-3192	CLIP-seq
MIRT2338493	hsa-miR-326	CLIP-seq
MIRT2338494	hsa-miR-330-5p	CLIP-seq
MIRT1387302	hsa-miR-3673	CLIP-seq
MIRT2338495	hsa-miR-4300	CLIP-seq
MIRT2338496	hsa-miR-4314	CLIP-seq
MIRT1387305	hsa-miR-4319	CLIP-seq
MIRT2338497	hsa-miR-433	CLIP-seq
MIRT2338498	hsa-miR-4511	CLIP-seq
MIRT2338499	hsa-miR-4646-5p	CLIP-seq
MIRT1387308	hsa-miR-4732-3p	CLIP-seq
MIRT1387309	hsa-miR-4766-5p	CLIP-seq
MIRT1387310	hsa-miR-488	CLIP-seq
MIRT2338500	hsa-miR-543	CLIP-seq
MIRT2338501	hsa-miR-579	CLIP-seq
MIRT1387313	hsa-miR-670	CLIP-seq
MIRT2338502	hsa-miR-920	CLIP-seq
MIRT2631973	hsa-miR-1231	CLIP-seq
MIRT2631974	hsa-miR-1245b-3p	CLIP-seq
MIRT2631975	hsa-miR-1254	CLIP-seq
MIRT2631976	hsa-miR-137	CLIP-seq
MIRT2631977	hsa-miR-15a	CLIP-seq
MIRT2631978	hsa-miR-15b	CLIP-seq
MIRT2631979	hsa-miR-16	CLIP-seq
MIRT2631980	hsa-miR-195	CLIP-seq
MIRT2631981	hsa-miR-1976	CLIP-seq
MIRT2116012	hsa-miR-200b	CLIP-seq
MIRT2116013	hsa-miR-200c	CLIP-seq
MIRT1387301	hsa-miR-217	CLIP-seq
MIRT2631982	hsa-miR-3116	CLIP-seq
MIRT2631983	hsa-miR-3117-5p	CLIP-seq
MIRT2631984	hsa-miR-3160-5p	CLIP-seq
MIRT2631985	hsa-miR-3190	CLIP-seq
MIRT2631986	hsa-miR-3200-3p	CLIP-seq
MIRT2631987	hsa-miR-3529	CLIP-seq
MIRT2631988	hsa-miR-369-3p	CLIP-seq
MIRT2631989	hsa-miR-379	CLIP-seq
MIRT2631990	hsa-miR-424	CLIP-seq
MIRT2631991	hsa-miR-4288	CLIP-seq
MIRT2116015	hsa-miR-429	CLIP-seq
MIRT2631992	hsa-miR-4328	CLIP-seq
MIRT2116016	hsa-miR-4418	CLIP-seq
MIRT2631993	hsa-miR-4438	CLIP-seq
MIRT2631994	hsa-miR-4451	CLIP-seq
MIRT2631995	hsa-miR-4461	CLIP-seq
MIRT2631996	hsa-miR-4501	CLIP-seq
MIRT2631997	hsa-miR-4504	CLIP-seq
MIRT2631998	hsa-miR-4524	CLIP-seq
MIRT2631999	hsa-miR-4650-3p	CLIP-seq
MIRT2632000	hsa-miR-4659a-5p	CLIP-seq
MIRT2632001	hsa-miR-4659b-5p	CLIP-seq
MIRT2632002	hsa-miR-4667-3p	CLIP-seq
MIRT2632003	hsa-miR-4677-3p	CLIP-seq
MIRT2632004	hsa-miR-4679	CLIP-seq
MIRT2632005	hsa-miR-4711-5p	CLIP-seq
MIRT2632006	hsa-miR-4719	CLIP-seq
MIRT2632007	hsa-miR-4722-3p	CLIP-seq
MIRT2632008	hsa-miR-4752	CLIP-seq
MIRT2632009	hsa-miR-4776-3p	CLIP-seq
MIRT2632010	hsa-miR-497	CLIP-seq
MIRT2632011	hsa-miR-503	CLIP-seq
MIRT2632012	hsa-miR-507	CLIP-seq
MIRT2116019	hsa-miR-509-3-5p	CLIP-seq
MIRT2116020	hsa-miR-509-5p	CLIP-seq
MIRT2632013	hsa-miR-522	CLIP-seq
MIRT2632014	hsa-miR-539	CLIP-seq
MIRT2632015	hsa-miR-542-3p	CLIP-seq
MIRT2632016	hsa-miR-548c-3p	CLIP-seq
MIRT2632017	hsa-miR-557	CLIP-seq
MIRT2632018	hsa-miR-580	CLIP-seq
MIRT2632019	hsa-miR-587	CLIP-seq
MIRT2632020	hsa-miR-632	CLIP-seq
MIRT2632021	hsa-miR-642b	CLIP-seq
MIRT2632022	hsa-miR-646	CLIP-seq
MIRT2632023	hsa-miR-661	CLIP-seq
MIRT2631976	hsa-miR-137	CLIP-seq
MIRT2631977	hsa-miR-15a	CLIP-seq
MIRT2631978	hsa-miR-15b	CLIP-seq
MIRT2631979	hsa-miR-16	CLIP-seq
MIRT2631980	hsa-miR-195	CLIP-seq
MIRT2116012	hsa-miR-200b	CLIP-seq
MIRT2116013	hsa-miR-200c	CLIP-seq
MIRT1387301	hsa-miR-217	CLIP-seq
MIRT2631984	hsa-miR-3160-5p	CLIP-seq
MIRT2631985	hsa-miR-3190	CLIP-seq
MIRT2631986	hsa-miR-3200-3p	CLIP-seq
MIRT2691942	hsa-miR-3202	CLIP-seq
MIRT2631988	hsa-miR-369-3p	CLIP-seq
MIRT2631990	hsa-miR-424	CLIP-seq
MIRT2116015	hsa-miR-429	CLIP-seq
MIRT2631992	hsa-miR-4328	CLIP-seq
MIRT2116016	hsa-miR-4418	CLIP-seq
MIRT2631993	hsa-miR-4438	CLIP-seq
MIRT2631995	hsa-miR-4461	CLIP-seq
MIRT2631998	hsa-miR-4524	CLIP-seq
MIRT2691943	hsa-miR-4533	CLIP-seq
MIRT2632000	hsa-miR-4659a-5p	CLIP-seq
MIRT2632001	hsa-miR-4659b-5p	CLIP-seq
MIRT1387306	hsa-miR-4698	CLIP-seq
MIRT2632005	hsa-miR-4711-5p	CLIP-seq
MIRT2632006	hsa-miR-4719	CLIP-seq
MIRT2632008	hsa-miR-4752	CLIP-seq
MIRT2632009	hsa-miR-4776-3p	CLIP-seq
MIRT2632010	hsa-miR-497	CLIP-seq
MIRT2632011	hsa-miR-503	CLIP-seq
MIRT2632012	hsa-miR-507	CLIP-seq
MIRT2116019	hsa-miR-509-3-5p	CLIP-seq
MIRT2116020	hsa-miR-509-5p	CLIP-seq
MIRT2632014	hsa-miR-539	CLIP-seq
MIRT2632017	hsa-miR-557	CLIP-seq
MIRT2632018	hsa-miR-580	CLIP-seq
MIRT2632019	hsa-miR-587	CLIP-seq
MIRT2632021	hsa-miR-642b	CLIP-seq
MIRT2632022	hsa-miR-646	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004758	Function	Serine C-palmitoyltransferase activity	IBA
GO:0004758	Function	Serine C-palmitoyltransferase activity	IDA	19416851, 19648650
GO:0004758	Function	Serine C-palmitoyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	19416851
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	33558761
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0017059	Component	Serine palmitoyltransferase complex	IBA
GO:0017059	Component	Serine palmitoyltransferase complex	IDA	17331073, 19416851
GO:0017059	Component	Serine palmitoyltransferase complex	IEA
GO:0017059	Component	Serine palmitoyltransferase complex	IPI	19416851
GO:0030148	Process	Sphingolipid biosynthetic process	TAS	19416851
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0046512	Process	Sphingosine biosynthetic process	IBA
GO:0046512	Process	Sphingosine biosynthetic process	IDA	19416851
GO:0046512	Process	Sphingosine biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046520	Process	Sphingoid biosynthetic process	IDA	19648650

MIM	HGNC	e!Ensembl
611120	16253	ENSG00000172296

Q9NUV7

Protein name

Serine palmitoyltransferase 3 (EC 2.3.1.50) (Long chain base biosynthesis protein 2b) (LCB2b) (Long chain base biosynthesis protein 3) (LCB 3) (Serine-palmitoyl-CoA transferase 3) (SPT 3)

Protein function

Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00155	Aminotran_1_2	160 → 520	Aminotransferase class I and II	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin. {ECO:0000269|PubMed:17023427}.

Sequence

MANPGGGAVCNGKLHNHKKQSNGSQSRNCTKNGIVKEAQQNGKPHFYDKLIVESFEEAPL
HVMVFTYMGYGIGTLFGYLRDFLRNWGIEKCNAAVERKEQKDFVPLYQDFENFYTRNLYM
RIRDNWNRPICSAPGPLFDLMERVSDDYNWTFRFTGRVIKDVINMGSYNFLGLAAKYDES
MRTIKDVLEVYGTGVASTRHEMGTLDKHKELEDLVAKFLNVEAAMVFGMGFATNSMNIPA
LVGKGCLILSDELNHTSLVLGARLSGATIRIFKHNNTQSLEKLLRDAVIYGQPRTRRAWK
KILILVEGVYSMEGSIVHLPQIIALKKKYKAYLYIDEAHSIGAVGPTGRGVTEFFGLDPH
EVDVLMGTFTKSFGASGGYIAGRKDLVDYLRVHSHSAVYASSMSPPIAEQIIRSLKLIMG
LDGTTQGLQRVQQLAKNTRYFRQRLQEMGFIIYGNENASVVPLLLYMPGKVAAFARHMLE
KKIGVVVVGFPATPLAEARARFCVSAAHTREMLDTVLEALDEMGDLLQLKYSRHKKSARP
ELYDETSFELED

Sequence length

552

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Peripheral neuropathy	Likely pathogenic	rs755919784	RCV000235090	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory neuropathy	Likely pathogenic	rs755919784	RCV000235090	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Dermatitis Atopic	Atopic dermatitis	Pubtator	35462437	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33964854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	34503513, 36011408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19955365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG	26257172		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory neuropathy	Sensory neuropathy	CLINVAR_DG	26257172		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Septicemia	Septicemia	BEFREE	29625113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	19955365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27531877		★★★★★ ★☆☆☆☆ Found in Text Mining only

SPTLC3 (serine palmitoyltransferase long chain base subunit 3)