SMPD3 (sphingomyelin phosphodiesterase 3) - Rat Genome Database

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Gene: SMPD3 (sphingomyelin phosphodiesterase 3) Homo sapiens
Analyze
Symbol: SMPD3
Name: sphingomyelin phosphodiesterase 3
RGD ID: 1347416
HGNC Page HGNC:14240
Description: Enables sphingomyelin phosphodiesterase activity. Involved in sphingomyelin catabolic process. Predicted to be located in plasma membrane. Predicted to be active in cytoplasm. Biomarker of pulmonary emphysema.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ22593; MGC138443; neutral sphingomyelinase 2; neutral sphingomyelinase II; nSMase-2; NSMASE2; sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381668,358,327 - 68,448,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1668,358,327 - 68,448,508 (-)EnsemblGRCh38hg38GRCh38
GRCh371668,392,230 - 68,482,411 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,949,731 - 67,039,905 (-)NCBINCBI36Build 36hg18NCBI36
Build 341666,949,732 - 67,039,905NCBI
Celera1652,900,779 - 52,990,952 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,265,453 - 54,355,875 (-)NCBIHuRef
CHM1_11669,800,294 - 69,890,458 (-)NCBICHM1_1
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SMPD3Humanchronic obstructive pulmonary disease  ISOSmpd3 (Rattus norvegicus)10041059protein:increased expression:lung:RGD 
SMPD3Humanpulmonary emphysema  IEP 10041059protein:increased expression:lung:RGD 
SMPD3Humanpulmonary hypertension treatmentISOSmpd3 (Rattus norvegicus)9068941 RGDPMID:19088082 and REF_RGD_ID:10042965
SMPD3Humantransient cerebral ischemia  ISOSmpd3 (Rattus norvegicus)9588303 RGD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SMPD3Humanautosomal dominant dyskeratosis congenita 6  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyskeratosis congenita and autosomal dominant 6ClinVarPMID:28492532
SMPD3HumanChromosome 16q12 Duplication Syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Chromosome 16q12 duplication syndromeClinVarPMID:25741868
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
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Original Reference(s)
SMPD3Humanleukemia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18283525
SMPD3Humanmyelodysplastic syndrome  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18283525
Object Symbol
Species
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Qualifier
Evidence
With
Reference
Notes
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Original Reference(s)
SMPD3Humanhypopituitarism  ISSSmpd3 (Mus musculus)13592920OMIM:221750 more ...MouseDO 
SMPD3Humanosteogenesis imperfecta  ISSSmpd3 (Mus musculus)13592920 MouseDO 
SMPD3Humanosteogenesis imperfecta type 2  ISSSmpd3 (Mus musculus)13592920OMIM:166210MouseDO 
SMPD3Humanosteogenesis imperfecta type 3  ISSSmpd3 (Mus musculus)13592920OMIM:259420MouseDO 

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Original Reference(s)
SMPD3Human(+)-schisandrin B multiple interactionsISOSmpd3 (Rattus norvegicus)6480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of SMPD3 mRNA]CTDPMID:31150632
SMPD3Human(1->4)-beta-D-glucan multiple interactionsISOSmpd3 (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of SMPD3 mRNACTDPMID:36331819
SMPD3Human(S)-nicotine multiple interactionsISOSmpd3 (Mus musculus)6480464[Nicotine co-treated with 1-Methyl-4-phenyl-1 more ...CTDPMID:20230807
SMPD3Human1,2-dimethylhydrazine multiple interactionsISOSmpd3 (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of SMPD3 mRNACTDPMID:22206623
SMPD3Human1,2-dimethylhydrazine affects expressionISOSmpd3 (Mus musculus)64804641 and 2-Dimethylhydrazine affects the expression of SMPD3 mRNACTDPMID:22206623
SMPD3Human1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine increases expressionISOSmpd3 (Rattus norvegicus)6480464chlorcyclizine results in increased expression of SMPD3 mRNACTDPMID:21058326
SMPD3Human1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine increases expressionISOSmpd3 (Mus musculus)64804641-Methyl-4-phenyl-1 more ...CTDPMID:20230807
SMPD3Human1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine multiple interactionsISOSmpd3 (Mus musculus)6480464[Caffeine co-treated with 1-Methyl-4-phenyl-1 more ...CTDPMID:20230807
SMPD3Human1-naphthyl isothiocyanate increases expressionISOSmpd3 (Mus musculus)64804641-Naphthylisothiocyanate results in increased expression of SMPD3 mRNACTDPMID:27853831 and PMID:29737914
SMPD3Human17alpha-ethynylestradiol affects expressionISOSmpd3 (Mus musculus)6480464Ethinyl Estradiol affects the expression of SMPD3 mRNACTDPMID:17555576
SMPD3Human17alpha-ethynylestradiol increases expressionISOSmpd3 (Rattus norvegicus)6480464Ethinyl Estradiol results in increased expression of SMPD3 mRNACTDPMID:17557909
SMPD3Human17beta-estradiol multiple interactionsISOSmpd3 (Rattus norvegicus)6480464[bisphenol A co-treated with Estradiol] results in increased expression of SMPD3 mRNACTDPMID:26496021
SMPD3Human17beta-estradiol increases expressionISOSmpd3 (Mus musculus)6480464Estradiol results in increased expression of SMPD3 mRNACTDPMID:39298647
SMPD3Human2,2',4,4',5,5'-hexachlorobiphenyl increases expressionISOSmpd3 (Mus musculus)64804642 more ...CTDPMID:20005886
SMPD3Human2,2',4,4',5,5'-hexachlorobiphenyl increases expressionEXP 64804642 more ...CTDPMID:34627992
SMPD3Human2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISOSmpd3 (Mus musculus)6480464[2 more ...CTDPMID:25510870
SMPD3Human2,2',4,4'-Tetrabromodiphenyl ether affects expressionISOSmpd3 (Mus musculus)64804642 more ...CTDPMID:30294300
SMPD3Human2,2',4,4'-Tetrabromodiphenyl ether multiple interactionsISOSmpd3 (Mus musculus)6480464[Flame Retardants results in increased abundance of 2 more ...CTDPMID:38995820
SMPD3Human2,2',5,5'-tetrachlorobiphenyl multiple interactionsISOSmpd3 (Mus musculus)6480464[2 more ...CTDPMID:25510870
SMPD3Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOSmpd3 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of SMPD3 mRNACTDPMID:20005886

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Biological Process
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Original Reference(s)
SMPD3Humanartery smooth muscle contraction  ISOSmpd3 (Rattus norvegicus)9068941 RGDPMID:19088082 and REF_RGD_ID:10042965
SMPD3HumanBMP signaling pathway acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanbone development acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanbone growth acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanbone mineralization acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancartilage development acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancellular response to hydrogen peroxide acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancellular response to interleukin-1  ISOSmpd3 (Rattus norvegicus)9068941 RGDPMID:17693623 and REF_RGD_ID:10042964
SMPD3Humancellular response to magnesium ion acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancellular response to oxidised low-density lipoprotein particle stimulus acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancellular response to peptide acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancellular response to reactive oxygen species acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancellular response to redox state acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancellular response to tumor necrosis factor acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanceramide metabolic process acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanchondrocyte development acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanchondrocyte development involved in endochondral bone morphogenesis acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humancollagen metabolic process acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humandentinogenesis acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3HumanDNA biosynthetic process acts_upstream_of_or_withinIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
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Cellular Component
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Original Reference(s)
SMPD3Humancytoplasm is_active_inIBAMGI:1927578 more ...150520179 GO_CentralGO_REF:0000033
SMPD3Humanextracellular region located_inIEAInterPro:IPR017766150520179 InterProGO_REF:0000002
SMPD3HumanGolgi apparatus located_inIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3HumanGolgi apparatus located_inIEAUniProtKB-KW:KW-0333150520179 UniProtGO_REF:0000043
SMPD3HumanGolgi cis cisterna located_inIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3HumanGolgi membrane located_inIEAUniProtKB-SubCell:SL-0134150520179 UniProtGO_REF:0000044
SMPD3Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
SMPD3Humanplasma membrane located_inISSUniProtKB:Q9JJY3150520179 UniProtGO_REF:0000024
SMPD3Humanplasma membrane located_inIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanplasma membrane located_inIEAUniProtKB-SubCell:SL-0039150520179 UniProtGO_REF:0000044
SMPD3Humanplasma membrane located_inTAS 150520179 ReactomeReactome:R-HSA-1606273 and Reactome:R-HSA-5626981
SMPD3Humanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
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Molecular Function
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Original Reference(s)
SMPD3Humancatalytic activity enablesIEAInterPro:IPR005135150520179 InterProGO_REF:0000002
SMPD3Humanhydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
SMPD3Humanidentical protein binding enablesIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
SMPD3Humanneutral sphingomyelin phosphodiesterase activity enablesIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanphosphatidic acid binding enablesISSUniProtKB:Q9JJY3150520179 UniProtGO_REF:0000024
SMPD3Humanphosphatidic acid binding enablesIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanphosphatidylserine binding enablesISSUniProtKB:Q9JJY3150520179 UniProtGO_REF:0000024
SMPD3Humanphosphatidylserine binding enablesIEAUniProtKB:Q9JJY3 and ensembl:ENSMUSP00000069255150520179 EnsemblGO_REF:0000107
SMPD3Humanphosphoric diester hydrolase activity enablesIDA 150520179 PMID:14741383UniProtPMID:14741383
SMPD3Humanphosphoric diester hydrolase activity enablesIEAInterPro:IPR017766150520179 InterProGO_REF:0000002
SMPD3Humanprotein binding  ISOEed (Rattus norvegicus)9068941 RGDPMID:24007266 and REF_RGD_ID:9588303
SMPD3Humanprotein binding enablesIPIUniProtKB:O75530150520179 PMID:20080539IntActPMID:20080539
SMPD3Humanprotein binding  ISORack1 (Rattus norvegicus)9068941 RGDPMID:24007266 and REF_RGD_ID:9588303
SMPD3Humansphingomyelin phosphodiesterase activity enablesISSUniProtKB:Q9JJY3150520179 UniProtGO_REF:0000024
SMPD3Humansphingomyelin phosphodiesterase activity enablesIBAMGI:1927578 more ...150520179 GO_CentralGO_REF:0000033
SMPD3Humansphingomyelin phosphodiesterase activity enablesIEAInterPro:IPR038772150520179 InterProGO_REF:0000002
SMPD3Humansphingomyelin phosphodiesterase activity enablesIDA 150520179 PMID:14741383UniProtPMID:14741383
SMPD3Humansphingomyelin phosphodiesterase activity enablesIEAEC:3.1.4.12150520179 UniProtGO_REF:0000003
SMPD3Humansphingomyelin phosphodiesterase activity enablesIEARHEA:19253150520179 RHEAGO_REF:0000116
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Imported Annotations - KEGG (archival)

Object Symbol
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Reference
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Original Reference(s)
SMPD3Humansphingolipid metabolic pathway  IEA 6907045 KEGGhsa:00600

Imported Annotations - PID (archival)

Object Symbol
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Term
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Reference
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Original Reference(s)
SMPD3Humanceramide signaling pathway  EXP 6484113 PIDPID:200119
Object Symbol
Species
Term
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Evidence
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Reference
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Source
Original Reference(s)
SMPD3HumanImmunodeficiency  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ImmunodeficiencyClinVar 

#
Reference Title
Reference Citation
1. Neutral sphingomyelinase 2: a novel target in cigarette smoke-induced apoptosis and lung injury. Filosto S, etal., Am J Respir Cell Mol Biol. 2011 Mar;44(3):350-60. doi: 10.1165/rcmb.2009-0422OC. Epub 2010 May 6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Early activation of nSMase2/ceramide pathway in astrocytes is involved in ischemia-associated neuronal damage via inflammation in rat hippocampi. Gu L, etal., J Neuroinflammation. 2013 Sep 3;10:109. doi: 10.1186/1742-2094-10-109.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:10823942   PMID:12417987   PMID:12477932   PMID:12566438   PMID:14741383   PMID:15051724   PMID:15489334   PMID:15509740   PMID:16517606   PMID:16631623   PMID:17085432   PMID:17349629  
PMID:18299447   PMID:19698806   PMID:19735728   PMID:19913121   PMID:20080539   PMID:20106976   PMID:20628086   PMID:21303347   PMID:21536668   PMID:21708940   PMID:21873635   PMID:22082680  
PMID:22114277   PMID:22721673   PMID:23439645   PMID:23651497   PMID:24694597   PMID:24960545   PMID:25047167   PMID:25180167   PMID:25394686   PMID:25465297   PMID:26512957   PMID:26855418  
PMID:27013100   PMID:28221099   PMID:28514442   PMID:28652336   PMID:28889482   PMID:29337691   PMID:29720981   PMID:30531925   PMID:30890560   PMID:32393512   PMID:33727246   PMID:33938457  
PMID:33961781   PMID:34584229   PMID:34951654   PMID:35914814   PMID:36768348   PMID:37640282   PMID:38542220   PMID:39358380  



SMPD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381668,358,327 - 68,448,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1668,358,327 - 68,448,508 (-)EnsemblGRCh38hg38GRCh38
GRCh371668,392,230 - 68,482,411 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,949,731 - 67,039,905 (-)NCBINCBI36Build 36hg18NCBI36
Build 341666,949,732 - 67,039,905NCBI
Celera1652,900,779 - 52,990,952 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,265,453 - 54,355,875 (-)NCBIHuRef
CHM1_11669,800,294 - 69,890,458 (-)NCBICHM1_1
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBIT2T-CHM13v2.0
Smpd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,979,180 - 107,064,597 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,979,180 - 107,064,620 (-)EnsemblGRCm39 Ensembl
GRCm388106,252,548 - 106,337,965 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8106,252,548 - 106,337,988 (-)EnsemblGRCm38mm10GRCm38
MGSCv378108,776,448 - 108,861,888 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368109,141,677 - 109,227,117 (-)NCBIMGSCv36mm8
Celera8110,480,448 - 110,565,952 (-)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.12NCBI
Smpd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81951,072,209 - 51,155,639 (-)NCBIGRCr8
mRatBN7.21934,162,337 - 34,245,786 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1934,162,341 - 34,245,749 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1940,977,903 - 41,061,312 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01941,631,214 - 41,714,614 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01943,930,363 - 44,013,762 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01938,237,963 - 38,321,572 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1938,237,965 - 38,321,528 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01949,107,658 - 49,191,221 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41936,112,166 - 36,195,564 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11936,117,046 - 36,200,445 (-)NCBI
Celera1933,589,416 - 33,672,639 (-)NCBICelera
RH 3.4 Map19304.3RGD
Cytogenetic Map19q12NCBI
Smpd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554848,272,572 - 8,298,144 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554848,207,686 - 8,298,164 (+)NCBIChiLan1.0ChiLan1.0
SMPD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21877,905,024 - 77,995,458 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11683,816,346 - 83,906,775 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01648,734,664 - 48,825,241 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11668,129,034 - 68,219,625 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1668,131,905 - 68,142,871 (-)Ensemblpanpan1.1panPan2
SMPD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1581,089,657 - 81,172,173 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl581,142,888 - 81,172,189 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha581,080,156 - 81,162,625 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0581,524,565 - 81,607,194 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl581,553,588 - 81,606,670 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1581,351,425 - 81,433,990 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0581,034,510 - 81,116,929 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0581,675,446 - 81,757,898 (+)NCBIUU_Cfam_GSD_1.0
Smpd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934940,833,996 - 40,920,586 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647518,671,428 - 18,755,208 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647518,667,563 - 18,755,132 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMPD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl628,938,290 - 29,025,357 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1628,938,287 - 29,025,397 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2626,117,915 - 26,204,889 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMPD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1558,965,965 - 59,057,823 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl559,029,093 - 59,059,577 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604721,702,920 - 21,795,181 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smpd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474617,920,835 - 17,948,468 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474617,857,779 - 17,948,469 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in SMPD3
77 total Variants

1 to 10 of 106 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
NM_018667.3(SMPD3):c.1955A>T (p.Glu652Val) single nucleotide variant Malignant melanoma [RCV000063081] Chr16:68361219 [GRCh38]
Chr16:68395122 [GRCh37]
Chr16:66952623 [NCBI36]
Chr16:16q22.1		 not provided
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
1 to 10 of 106 rows

Predicted Target Of
Summary Value
Count of predictions:5866
Count of miRNA genes:1199
Interacting mature miRNAs:1542
Transcripts:ENST00000219334, ENST00000561749, ENST00000563226, ENST00000563396, ENST00000563455, ENST00000566009, ENST00000566466, ENST00000566723, ENST00000567223, ENST00000567811, ENST00000568373, ENST00000574662
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 31 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597123798GWAS1219872_Hchronic obstructive pulmonary disease QTL GWAS1219872 (human)0.000002lung integrity trait (VT:0010906)166836497268364973Human
596961237GWAS1080756_Hmetabolic syndrome QTL GWAS1080756 (human)3e-09metabolic syndrome166837006368370064Human
597101076GWAS1197150_Hsex hormone-binding globulin measurement QTL GWAS1197150 (human)7e-12sex hormone-binding globulin measurement166839494168394942Human
597206046GWAS1302120_Hbirth weight QTL GWAS1302120 (human)1e-08birth weightneonatal body weight (CMO:0002079)166838776568387766Human
597336540GWAS1432614_HCOVID-19 QTL GWAS1432614 (human)0.000004COVID-19166841230768412308Human
597105040GWAS1201114_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS1201114 (human)6e-11schizophrenia, intelligence, self reported educational attainment166838488968384890Human
597123743GWAS1219817_Hchronic obstructive pulmonary disease QTL GWAS1219817 (human)0.0000006lung integrity trait (VT:0010906)166836497268364973Human
597394448GWAS1490522_Hmetabolic syndrome QTL GWAS1490522 (human)3e-09metabolic syndrome166837006368370064Human
597280916GWAS1376990_Hsex hormone-binding globulin measurement QTL GWAS1376990 (human)5e-09sex hormone-binding globulin measurement166838592868385929Human
597328212GWAS1424286_HAgouti-related protein measurement QTL GWAS1424286 (human)6e-18Agouti-related protein measurement166839640368396404Human

1 to 10 of 31 rows
RH92696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,394,664 - 68,394,754UniSTSGRCh37
Build 361666,952,165 - 66,952,255RGDNCBI36
Celera1652,903,212 - 52,903,302RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,267,893 - 54,267,983UniSTS
GeneMap99-GB4 RH Map16410.38UniSTS
RH123348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,431,637 - 68,431,924UniSTSGRCh37
Build 361666,989,138 - 66,989,425RGDNCBI36
Celera1652,940,180 - 52,940,467RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,304,823 - 54,305,110UniSTS
TNG Radiation Hybrid Map1629536.0UniSTS
G59890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,438,978 - 68,439,099UniSTSGRCh37
Build 361666,996,479 - 66,996,600RGDNCBI36
Celera1652,947,521 - 52,947,642RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,312,164 - 54,312,285UniSTS
TNG Radiation Hybrid Map1629539.0UniSTS
SHGC-61160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,392,252 - 68,392,440UniSTSGRCh37
Build 361666,949,753 - 66,949,941RGDNCBI36
Celera1652,900,801 - 52,900,989RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,265,475 - 54,265,663UniSTS
GeneMap99-GB4 RH Map16406.33UniSTS
NCBI RH Map16508.6UniSTS
RH48608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,438,978 - 68,439,133UniSTSGRCh37
Build 361666,996,479 - 66,996,634RGDNCBI36
Celera1652,947,521 - 52,947,676RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,312,164 - 54,312,319UniSTS
GeneMap99-GB4 RH Map16406.22UniSTS
NCBI RH Map16508.6UniSTS
Smpd3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,395,182 - 68,395,561UniSTSGRCh37
Celera1652,903,730 - 52,904,109UniSTS
HuRef1654,268,411 - 54,268,790UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2431 2788 2242 4921 1720 2337 4 620 1921 462 2251 7242 6425 50 3704 837 1720 1606 170


1 to 30 of 53 rows
RefSeq Transcripts NM_018667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_933371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 53 rows

Ensembl Acc Id: ENST00000219334   ⟹   ENSP00000219334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,358,327 - 68,448,508 (-)Ensembl
Ensembl Acc Id: ENST00000561749   ⟹   ENSP00000457236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,371,901 - 68,448,492 (-)Ensembl
Ensembl Acc Id: ENST00000563226   ⟹   ENSP00000455955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,361,134 - 68,372,258 (-)Ensembl
Ensembl Acc Id: ENST00000563396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,361,299 - 68,363,693 (-)Ensembl
Ensembl Acc Id: ENST00000563455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,367,452 - 68,371,009 (-)Ensembl
Ensembl Acc Id: ENST00000566009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,364,414 - 68,371,031 (-)Ensembl
Ensembl Acc Id: ENST00000566466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,368,855 - 68,371,080 (-)Ensembl
Ensembl Acc Id: ENST00000566723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,370,974 - 68,448,442 (-)Ensembl
Ensembl Acc Id: ENST00000567223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,363,742 - 68,371,031 (-)Ensembl
Ensembl Acc Id: ENST00000567811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,364,580 - 68,371,031 (-)Ensembl
Ensembl Acc Id: ENST00000568373   ⟹   ENSP00000457422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,361,127 - 68,372,258 (-)Ensembl
Ensembl Acc Id: ENST00000574662   ⟹   ENSP00000459317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,360,538 - 68,371,005 (-)Ensembl
RefSeq Acc Id: NM_018667   ⟹   NP_061137
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,448,508 (-)NCBI
GRCh371668,392,230 - 68,482,409 (-)ENTREZGENE
Build 361666,949,731 - 67,039,905 (-)NCBI Archive
HuRef1654,265,453 - 54,355,875 (-)ENTREZGENE
CHM1_11669,800,294 - 69,890,458 (-)NCBI
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005256032   ⟹   XP_005256089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,386,754 (-)NCBI
GRCh371668,392,230 - 68,482,409 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523207   ⟹   XP_011521509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,448,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523210   ⟹   XP_011521512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,367,428 - 68,386,754 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023406   ⟹   XP_016878895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,448,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434336   ⟹   XP_047290292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,386,754 (-)NCBI
RefSeq Acc Id: XM_047434337   ⟹   XP_047290293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,386,754 (-)NCBI
RefSeq Acc Id: XM_047434338   ⟹   XP_047290294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,448,508 (-)NCBI
RefSeq Acc Id: XM_047434339   ⟹   XP_047290295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,448,508 (-)NCBI
RefSeq Acc Id: XM_047434340   ⟹   XP_047290296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,448,508 (-)NCBI
RefSeq Acc Id: XM_047434341   ⟹   XP_047290297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,358,327 - 68,381,512 (-)NCBI
RefSeq Acc Id: XM_054313410   ⟹   XP_054169385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBI
RefSeq Acc Id: XM_054313411   ⟹   XP_054169386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,182,680 (-)NCBI
RefSeq Acc Id: XM_054313412   ⟹   XP_054169387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBI
RefSeq Acc Id: XM_054313413   ⟹   XP_054169388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,184,964 (-)NCBI
RefSeq Acc Id: XM_054313414   ⟹   XP_054169389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBI
RefSeq Acc Id: XM_054313415   ⟹   XP_054169390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBI
RefSeq Acc Id: XM_054313416   ⟹   XP_054169391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,244,330 (-)NCBI
RefSeq Acc Id: XM_054313417   ⟹   XP_054169392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,182,513 (-)NCBI
RefSeq Acc Id: XM_054313418   ⟹   XP_054169393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,154,167 - 74,193,696 (-)NCBI
RefSeq Acc Id: XM_054313419   ⟹   XP_054169394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,162,944 - 74,182,513 (-)NCBI
RefSeq Acc Id: XM_054313420   ⟹   XP_054169395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,162,944 - 74,182,513 (-)NCBI
RefSeq Acc Id: XR_008484705
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,160,852 - 74,182,513 (-)NCBI
RefSeq Acc Id: XR_933371
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,365,017 - 68,386,754 (-)NCBI
Sequence:
1 to 30 of 40 rows
Protein RefSeqs NP_061137 (Get FASTA)   NCBI Sequence Viewer  
  XP_005256089 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521509 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521512 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878895 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290292 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290293 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290294 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290295 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290296 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169385 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169387 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169388 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169390 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169395 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI12239 (Get FASTA)   NCBI Sequence Viewer  
  AAI43632 (Get FASTA)   NCBI Sequence Viewer  
  AAI43635 (Get FASTA)   NCBI Sequence Viewer  
  ABD83664 (Get FASTA)   NCBI Sequence Viewer  
  ACV30039 (Get FASTA)   NCBI Sequence Viewer  
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1 to 30 of 40 rows
1 to 5 of 27 rows
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RefSeq Acc Id: NP_061137   ⟸   NM_018667
- UniProtKB: B7ZL82 (UniProtKB/Swiss-Prot),   Q2M1S8 (UniProtKB/Swiss-Prot),   Q9NY59 (UniProtKB/Swiss-Prot),   A8K0T6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005256089   ⟸   XM_005256032
- Peptide Label: isoform X1
- UniProtKB: B7ZL82 (UniProtKB/Swiss-Prot),   Q2M1S8 (UniProtKB/Swiss-Prot),   Q9NY59 (UniProtKB/Swiss-Prot),   A8K0T6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521509   ⟸   XM_011523207
- Peptide Label: isoform X1
- UniProtKB: B7ZL82 (UniProtKB/Swiss-Prot),   Q2M1S8 (UniProtKB/Swiss-Prot),   Q9NY59 (UniProtKB/Swiss-Prot),   A8K0T6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521512   ⟸   XM_011523210
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016878895   ⟸   XM_017023406
- Peptide Label: isoform X1
- UniProtKB: B7ZL82 (UniProtKB/Swiss-Prot),   Q2M1S8 (UniProtKB/Swiss-Prot),   Q9NY59 (UniProtKB/Swiss-Prot),   A8K0T6 (UniProtKB/TrEMBL)
- Sequence:
Endonuclease/exonuclease/phosphatase

Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY59-F1-model_v2 AlphaFold Q9NY59 1-655 view protein structure

RGD ID:6793462
Promoter ID:HG_KWN:24096
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000268895
Position:
Human AssemblyChrPosition (strand)Source
Build 361667,039,834 - 67,040,334 (-)MPROMDB
RGD ID:7232647
Promoter ID:EPDNEW_H22069
Type:initiation region
Name:SMPD3_1
Description:sphingomyelin phosphodiesterase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,448,506 - 68,448,566EPDNEW


1 to 34 of 34 rows
Database
Acc Id
Source(s)
COSMIC SMPD3 COSMIC
Ensembl Genes ENSG00000103056 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000219334 ENTREZGENE
  ENST00000219334.10 UniProtKB/Swiss-Prot
  ENST00000563226 ENTREZGENE
  ENST00000563226.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.60.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000103056 GTEx
HGNC ID HGNC:14240 ENTREZGENE
Human Proteome Map SMPD3 Human Proteome Map
InterPro Endo/exonu/phosph_ase_sf UniProtKB/Swiss-Prot
  Endo/exonuclease/phosphatase UniProtKB/Swiss-Prot
  Sph/SMPD2-like UniProtKB/Swiss-Prot
  Sphingomyelinase/PLipase_C UniProtKB/Swiss-Prot
KEGG Report hsa:55512 UniProtKB/Swiss-Prot
NCBI Gene 55512 ENTREZGENE
OMIM 605777 OMIM
PANTHER SPHINGOMYELIN PHOSPHODIESTERASE 3 UniProtKB/Swiss-Prot
  SPHINGOMYELINASE FAMILY MEMBER UniProtKB/Swiss-Prot
Pfam Exo_endo_phos UniProtKB/Swiss-Prot
PharmGKB PA37862 PharmGKB
Superfamily-SCOP SSF56219 UniProtKB/Swiss-Prot
UniProt A8K0T6 ENTREZGENE, UniProtKB/TrEMBL
  B7ZL82 ENTREZGENE
  C8CHW6_HUMAN UniProtKB/TrEMBL
  D6Q0F1_HUMAN UniProtKB/TrEMBL
  H3BS51_HUMAN UniProtKB/TrEMBL
  H3BTM0_HUMAN UniProtKB/TrEMBL
  I3L228_HUMAN UniProtKB/TrEMBL
  NSMA2_HUMAN UniProtKB/Swiss-Prot
  Q2M1S8 ENTREZGENE
  Q9NY59 ENTREZGENE
UniProt Secondary B7ZL82 UniProtKB/Swiss-Prot
  Q2M1S8 UniProtKB/Swiss-Prot
1 to 34 of 34 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SMPD3  sphingomyelin phosphodiesterase 3    sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)  Symbol and/or name change 5135510 APPROVED