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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6609
Gene name Gene Name - the full gene name approved by the HGNC.	Sphingomyelin phosphodiesterase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SMPD1
Synonyms (NCBI Gene) Gene synonyms aliases	ASM, ASMASE, NPD
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.4
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick di

Show/Hide all(146)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1803161	G>A,C	Pathogenic, uncertain-significance	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs120074117	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs120074118	GCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, 3 prime UTR variant
rs120074119	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs120074120	T>A	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs120074121	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs120074122	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, stop gained, missense variant, non coding transcript variant
rs120074123	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs120074124	T>C	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs120074125	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs120074126	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs120074127	C>G,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs120074128	C>A	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs141387770	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs142787001	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs143939609	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs144873307	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs148067213	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs148944108	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs182812968	C>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs199915216	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs200652683	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs200763423	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs201550531	G>C,T	Pathogenic	Intron variant, non coding transcript variant, missense variant, stop gained, coding sequence variant, synonymous variant
rs201659696	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, 3 prime UTR variant
rs202081954	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs202206564	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs202244080	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs267607073	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267607074	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267607075	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs281860663	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs281860665	T>A,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs281860677	->TCCCCGCA	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs369787650	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs370048730	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant
rs370129081	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs371837210	A>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs372287825	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs373940701	C>A,T	Likely-pathogenic	Missense variant, stop gained, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs374604948	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant, intron variant
rs387906289	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs398123474	G>C	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs398123475	T>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123476	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs398123478	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs398123479	G>C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs528939343	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant
rs555187617	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs559088058	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs575601110	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs587779408	G>A	Pathogenic, likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs727504165	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs727504166	T>C	Pathogenic, likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs727504167	T>-	Pathogenic	Intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs747143343	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs747342458	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant, 3 prime UTR variant
rs748165078	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant
rs748411156	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs749780769	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, missense variant
rs750157176	C>-,CC	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs750187574	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, synonymous variant, missense variant
rs750779804	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, missense variant
rs751269562	T>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs752148586	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, missense variant
rs753508874	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs755160837	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant, stop gained
rs755182589	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs756031857	G>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs756366019	C>-,CC	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs759389193	GT>-	Pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs761308217	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs763566905	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs769904764	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs770962157	A>-	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs771336819	T>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, synonymous variant, stop gained, missense variant, coding sequence variant
rs779528546	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781535659	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs786204506	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs786204514	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs786204694	TT>-	Pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs786204733	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs794727252	TGTTGAGTGGGCTGGGCCCAGCC>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs794727629	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs797044797	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs797044798	G>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs797044799	C>A,G	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs797044800	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs868423827	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs875989832	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs875989833	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs875989834	CCGTGTGTACCAA>-	Pathogenic	Stop gained, frameshift variant, non coding transcript variant, coding sequence variant
rs875989835	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs875989836	T>C	Pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs875989837	G>A	Pathogenic, not-provided	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs886043098	G>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs889113421	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant
rs943924098	C>G	Likely-pathogenic	3 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs989639224	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant, 5 prime UTR variant
rs1018556947	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1057516403	TT>-	Pathogenic, likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1057516432	TC>-	Pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1057516454	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs1057516722	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1057516854	G>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs1057516931	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1057516949	GACT>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517086	TT>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1057517098	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517195	C>T	Pathogenic	Intron variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1057517200	GT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517345	CC>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1057517390	TCTG>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057517826	T>G	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, missense variant
rs1064795484	G>T	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1205990349	C>T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs1225462507	T>A,C	Likely-pathogenic	Splice donor variant
rs1342372980	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1422720020	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1423504237	C>A,T	Likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs1428487333	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1437508852	CT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, 3 prime UTR variant, coding sequence variant
rs1470998208	G>A	Likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1554933746	A>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554933751	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554933780	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554934193	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554934210	G>-	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554934212	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554934241	->T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554934309	TCCTCACTGACCTGCACTGGGATCATGACTACCT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554934406	G>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554935136	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554935254	->TTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant, intron variant
rs1554935273	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554935285	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554935439	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1554935555	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1554935600	C>AA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1554935610	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 3 prime UTR variant
rs1554935746	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1564927308	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1590735238	->G	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1590735307	TGCTGGCGCT>CGC	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1590739350	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs1590743683	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant

Show/Hide all(180)

miRTarBase ID	miRNA	Experiments	Reference
MIRT648380	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT648379	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT648378	hsa-miR-1289	HITS-CLIP	23824327
MIRT648377	hsa-miR-4294	HITS-CLIP	23824327
MIRT648376	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT648375	hsa-miR-3198	HITS-CLIP	23824327
MIRT648374	hsa-miR-4309	HITS-CLIP	23824327
MIRT648373	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648372	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT648380	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT648379	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT648378	hsa-miR-1289	HITS-CLIP	23824327
MIRT648377	hsa-miR-4294	HITS-CLIP	23824327
MIRT648376	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT648375	hsa-miR-3198	HITS-CLIP	23824327
MIRT648374	hsa-miR-4309	HITS-CLIP	23824327
MIRT648373	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648372	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT1373826	hsa-miR-4463	CLIP-seq
MIRT1373827	hsa-miR-4494	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT1373831	hsa-miR-140-3p	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT1373832	hsa-miR-4310	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT1373833	hsa-miR-563	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT2111320	hsa-miR-4650-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2334439	hsa-miR-1231	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2334440	hsa-miR-346	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT2334441	hsa-miR-3655	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2334442	hsa-miR-4288	CLIP-seq
MIRT2334443	hsa-miR-431	CLIP-seq
MIRT2334444	hsa-miR-4421	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2334445	hsa-miR-499-3p	CLIP-seq
MIRT2334446	hsa-miR-499a-3p	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2334447	hsa-miR-632	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2334439	hsa-miR-1231	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT2628468	hsa-miR-1913	CLIP-seq
MIRT2628469	hsa-miR-1915	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2628470	hsa-miR-324-3p	CLIP-seq
MIRT2334440	hsa-miR-346	CLIP-seq
MIRT2628471	hsa-miR-34a	CLIP-seq
MIRT2628472	hsa-miR-34c-5p	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT2334441	hsa-miR-3655	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2334442	hsa-miR-4288	CLIP-seq
MIRT2334443	hsa-miR-431	CLIP-seq
MIRT2334444	hsa-miR-4421	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2628473	hsa-miR-4436b-3p	CLIP-seq
MIRT2628474	hsa-miR-449a	CLIP-seq
MIRT2628475	hsa-miR-449b	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT2111320	hsa-miR-4650-5p	CLIP-seq
MIRT2628476	hsa-miR-4685-5p	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2334447	hsa-miR-632	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2334439	hsa-miR-1231	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2334440	hsa-miR-346	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT2334441	hsa-miR-3655	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2334442	hsa-miR-4288	CLIP-seq
MIRT2334443	hsa-miR-431	CLIP-seq
MIRT2334444	hsa-miR-4421	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT2111320	hsa-miR-4650-5p	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2334447	hsa-miR-632	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP1	Activation	10224156

Show/Hide all(69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001778	Process	Plasma membrane repair	IDA	20530211
GO:0001778	Process	Plasma membrane repair	IEA
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	IDA	9660788, 21098024, 22573858, 33163980
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	IEA
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	TAS	1718266
GO:0005515	Function	Protein binding	IPI	16787399, 21157428
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	33163980
GO:0005615	Component	Extracellular space	IDA	8702487, 9660788, 16787399, 17303575, 20530211, 20807762, 21098024, 22573858, 27659707
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	33163980
GO:0005764	Component	Lysosome	IDA	9660788, 16787399, 18815062, 20530211, 20807762, 20956541, 21098024, 27659707
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IDA	20956541
GO:0005811	Component	Lipid droplet	IEA
GO:0005886	Component	Plasma membrane	IDA	20956541
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006672	Process	Ceramide metabolic process	IEA
GO:0006684	Process	Sphingomyelin metabolic process	TAS	7670466
GO:0006685	Process	Sphingomyelin catabolic process	IBA
GO:0006685	Process	Sphingomyelin catabolic process	IDA	18815062, 20807762, 22573858
GO:0006685	Process	Sphingomyelin catabolic process	IEA
GO:0006685	Process	Sphingomyelin catabolic process	IEA
GO:0007165	Process	Signal transduction	TAS	7670466
GO:0007399	Process	Nervous system development	TAS	7670466
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IDA	8702487, 9660788
GO:0008270	Function	Zinc ion binding	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009615	Process	Response to virus	IDA	22573858
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010212	Process	Response to ionizing radiation	IMP	8706124
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0023021	Process	Termination of signal transduction	IMP	19279008
GO:0033344	Process	Cholesterol efflux	IDA	25339683
GO:0034340	Process	Response to type I interferon	IDA	20807762
GO:0034480	Function	Phosphatidylcholine phospholipase C activity	IEA
GO:0034612	Process	Response to tumor necrosis factor	IDA	20807762
GO:0034644	Process	Cellular response to UV	IDA	17303575
GO:0036019	Component	Endolysosome	IDA	17303575
GO:0042060	Process	Wound healing	IDA	20530211
GO:0042220	Process	Response to cocaine	IEA
GO:0042599	Component	Lamellar body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	8706124
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	19279008
GO:0045807	Process	Positive regulation of endocytosis	IDA	20530211
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	33163980
GO:0046513	Process	Ceramide biosynthetic process	IDA	17303575, 18815062, 20807762, 33163980
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	IMP	8706124, 19279011
GO:0046598	Process	Positive regulation of viral entry into host cell	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	22573858
GO:0046872	Function	Metal ion binding	IEA
GO:0061750	Function	Acid sphingomyelin phosphodiesterase activity	IBA
GO:0061750	Function	Acid sphingomyelin phosphodiesterase activity	IDA	8702487, 17303575, 18815062, 20807762
GO:0061750	Function	Acid sphingomyelin phosphodiesterase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070269	Process	Pyroptotic inflammatory response	IDA	33883744
GO:0070555	Process	Response to interleukin-1	IDA	20807762
GO:0071277	Process	Cellular response to calcium ion	IDA	20530211

MIM	HGNC	e!Ensembl
607608	11120	ENSG00000166311

Protein

UniProt ID

P17405

Protein name

Sphingomyelin phosphodiesterase (EC 3.1.4.12) (EC 3.1.4.3) (Acid sphingomyelinase) (aSMase) [Cleaved into: Sphingomyelin phosphodiesterase, processed form]

Protein function

Converts sphingomyelin to ceramide (PubMed:12563314, PubMed:1840600, PubMed:18815062, PubMed:25339683, PubMed:25920558, PubMed:27659707, PubMed:33163980). Exists as two enzymatic forms that arise from alternative trafficking of a single protein

PDB

5I81 , 5I85 , 5I8R , 5JG8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00149	Metallophos	201 → 463	Calcineurin-like phosphoesterase	Domain

Sequence

MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE
AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK
LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL
PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR
PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL
RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV
AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR
ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC

Sequence length

631

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway Lysosome Necroptosis		Glycosphingolipid metabolism

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Niemann-Pick Disease	niemann-pick disease, type a, niemann-pick disease, type b	rs120074117, rs1848015403, rs281860663, rs757934797, rs1057517195, rs1057517200, rs753508874, rs1437508852, rs398123474, rs781535659, rs1225462507, rs875989834, rs727504166, rs1319643225, rs1428487333 View all (97 more)	N/A
Ceroid Lipofuscinosis Neuronal	Ceroid lipofuscinosis, neuronal, 6A	rs587779408	N/A
Sphingomyelinase deficiency	Acid sphingomyelinase deficiency, niemann-pick disease, type c1	rs387906289, rs756366019, rs755160837	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gaucher Disease	gaucher disease	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (72)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	10496347
Alzheimer Disease	Associate	25938590, 33925997
Amenorrhea	Associate	23356216
Atherosclerosis	Associate	19951413
Attention Deficit Disorder with Hyperactivity	Associate	32661301
Autism Spectrum Disorder	Associate	31595719
Beckwith Wiedemann Syndrome	Associate	11173664, 11310411
beta Thalassemia	Associate	36725747
Blood Coagulation Disorders	Associate	34075401
Budd Chiari Syndrome	Associate	36114502
Carcinoma Hepatocellular	Associate	39596241
Colorectal Neoplasms	Associate	29973580, 32273521, 39898245
Coronary Artery Disease	Associate	37298446
COVID 19	Associate	34075401
Dementia	Associate	25938590, 31195602
Dermatitis Atopic	Associate	15175033, 32092464
Dermatitis Exfoliative	Associate	32265319
Developmental Disabilities	Associate	31941852
Diabetes Mellitus	Associate	19951413
Diabetes Mellitus	Stimulate	28457994
Disease	Associate	2023926
Distal myopathy Nonaka type	Associate	32375665
Down Syndrome	Associate	37175979
Drug Hypersensitivity	Associate	24977483
Endometriosis	Associate	35992117
Facial Hemihypertrophy	Associate	11310411
Failure to Thrive	Associate	11173664
Frontotemporal Dementia	Associate	37003407
Gaucher Disease	Associate	31941852, 32375665
Genetic Predisposition to Disease	Associate	39441731
Glioblastoma	Associate	23667632
Hepatitis B	Associate	1885770, 2023926, 25811928, 31122880
Hepatitis B	Inhibit	25811928
Hepatomegaly	Associate	11173664
Hypercholesterolemia	Associate	32375665
Hypersensitivity Immediate	Associate	1391960
Immunologic Deficiency Syndromes	Associate	27484861
Inflammation	Associate	19951413, 20071681, 24977483
Inflammatory Bowel Diseases	Associate	19951413
Intellectual Disability	Associate	11173664
Leukemia Myeloid Acute	Associate	23916810
Lewy Body Disease	Associate	25933391
Lung Neoplasms	Associate	40159631
Lysosomal Storage Diseases	Associate	1885770, 26084044, 33925997, 34576242, 39441731
Mental Disorders	Associate	24977483
Mucolipidoses	Associate	23535491, 30795770, 8106525
Multiple Sclerosis	Stimulate	35886939
Muscle Hypotonia	Associate	11173664
Muscular dystrophy congenital with central nervous system involvement	Associate	23356216
Nasopharyngeal Carcinoma	Associate	34064109
Neoplasms	Associate	31489901, 39898245
Nervous System Diseases	Stimulate	22258513
Nervous System Diseases	Associate	31941852
Netherton Syndrome	Associate	32092464, 32265319
Neurodegenerative Diseases	Associate	27484861, 33925997
Niemann Pick Disease Type A	Inhibit	11173664, 24190732, 27725636, 35883096, 36333862
Niemann Pick Disease Type A	Associate	11310411, 1391960, 1565614, 1618760, 1885770, 2023926, 23188845, 23356216, 25920558, 27484861, 30223864, 30795770, 31122880, 31132580, 31941852 View all (8 more)
Niemann Pick Disease Type B	Associate	12369017, 1618760, 18088425, 1885770, 19405096, 2023926, 23188845, 25811928, 25920558, 26981555, 27725636, 30795770, 31122880, 32375665, 36114502, 36333862, 8693491 View all (2 more)
Niemann Pick Disease Type B	Inhibit	28665212, 29369793
Niemann Pick Disease Type C	Associate	26981555
Niemann Pick Diseases	Associate	11173664, 11310411, 1391960, 1565614, 1618760, 18088425, 1885770, 2023926, 21098024, 23188845, 23356216, 24190732, 25811928, 26084044, 26783088 View all (11 more)
Niemann Pick Diseases	Inhibit	30223864, 32375665
Nijmegen Breakage Syndrome	Associate	34576242
Ovarian Neoplasms	Associate	26125272
Parkinson Disease	Associate	23535491, 29029963, 30788890, 31595719, 35181782
Parkinson Disease Secondary	Associate	33925997
Proteinuria	Associate	23356216
Simpson Golabi Behmel syndrome	Associate	11310411
Soft Tissue Injuries	Associate	34075401
Tay Sachs Disease	Associate	23535491
Thrombophilia	Associate	34075401
Virus Diseases	Associate	34075401

SMPD1 (sphingomyelin phosphodiesterase 1)