Aliases for SMPD4 Gene
Aliases for SMPD4 Gene
External Ids for SMPD4 Gene
- HGNC: 32949
- Entrez Gene: 55627
- Ensembl: ENSG00000136699
- OMIM: 610457
- UniProtKB: Q9NXE4
Previous GeneCards Identifiers for SMPD4 Gene
- GC02M130626
- GC02M130908
- GC02M123204
Summaries for SMPD4 Gene
-
The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]
GeneCards Summary for SMPD4 Gene
SMPD4 (Sphingomyelin Phosphodiesterase 4) is a Protein Coding gene. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sphingomyelin phosphodiesterase activity and sphingomyelin phosphodiesterase D activity.
UniProtKB/Swiss-Prot for SMPD4 Gene
-
Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMPD4 Gene
Genomics for SMPD4 Gene
GeneHancer (GH) Regulatory Elements for SMPD4 Gene
Promoters and enhancers for SMPD4 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02J130180 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 650.7 | +0.2 | 213 | 4.5 | HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 | SMPD4 MZT2B TUBA3E NOC2LP1 RAB6C-AS1 | |
| GH02J130190 | Promoter | 0.6 | EPDnew | 650.4 | -7.9 | -7925 | 0.1 | SCRT2 | SMPD4 TUBA3E MZT2B | |
| GH02J130341 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 39.1 | -159.8 | -159841 | 3 | HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 | CCDC115 GC02P130344 IMP4 PIR60541 SMPD4 PTPN18 | |
| GH02J130336 | Enhancer | 1.3 | Ensembl ENCODE | 39.5 | -155.6 | -155557 | 3.5 | HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 IRF4 POLR2B ZNF766 | TRE-TTC1-1 SMPD4 PTPN18 RAB6C-AS1 IMP4 CCDC115 | |
| GH02J130332 | Enhancer | 1.1 | Ensembl ENCODE | 32.8 | -149.8 | -149842 | 0.8 | PKNOX1 ARID4B SIN3A YY1 ARID2 ZNF143 FOS REST KAT8 ZNF585B | SMPD4 PTPN18 TRE-TTC1-1 ENSG00000224352 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMPD4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SMPD4 gene promoter:
-
- HFH-3
- FOXI1
- RORalpha1
- Sp1
- E47
- XBP-1
- AREB6
- Arnt
- Sox5
- CUTL1
Regulatory Element Products
Genomic Locations for SMPD4 Gene
Genomic Locations for SMPD4 Gene
- chr2:130,151,392-130,182,750
- (GRCh38/hg38)
- Size:
- 31,359 bases
- Orientation:
- Minus strand
- chr2:130,908,965-130,940,323
- (GRCh37/hg19)
- Size:
- 31,359 bases
- Orientation:
- Minus strand
Genomic View for SMPD4 Gene
Genes around SMPD4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q21.1 by Entrez Gene
- 2q21.1 by HGNC
- 2q21.1 by Ensembl
SMPD4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMPD4 Gene
Proteins for SMPD4 Gene
-
Protein details for SMPD4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NXE4-NSMA3_HUMAN
- Recommended name:
- Sphingomyelin phosphodiesterase 4
- Protein Accession:
- Q9NXE4
- B1PBA3
- B4DM23
- B4DQ31
- B4DRB8
- B4DWK7
- B4E0L6
- E7ESA2
- E9PCE6
- Q6FI76
- Q6P1P7
- Q6ZT43
- Q9H0M2
- Q9NW20
- Q9NWL2
- Q9P2C9
Protein attributes for SMPD4 Gene
- Size:
- 866 amino acids
- Molecular mass:
- 97810 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAY14883.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91070.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91368.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91567.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92656.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SMPD4 Gene
Post-translational modifications for SMPD4 Gene
Other Protein References for SMPD4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SMPD4
- Novus Biologicals Antibodies for SMPD4
- Invitrogen Antibodies for SMPD4
- GeneTex SMPD4 Antibody for SMPD4
-
Boster Bio Antibodies for SMPD4
Protein Products
-
OriGene Purified Proteins for SMPD4
- Search Origene for MassSpec and Protein Over-expression Lysates for SMPD4
- Origene Custom Protein Services for SMPD4
- Novus Biologicals proteins for SMPD4
- Search GeneTex for Proteins for SMPD4
Assay Products
No data available for DME Specific Peptides for SMPD4 Gene
Domains & Families for SMPD4 Gene
Gene Families for SMPD4 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for SMPD4 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMPD4 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59341, highly similar to Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane, transcript variant 1, mRNA (B4DM23_HUMAN)
- cDNA FLJ53156, highly similar to Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane, transcript variant 2, mRNA (B4DQ31_HUMAN)
- cDNA FLJ58546, highly similar to Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane, transcript variant 1, mRNA (B4DWK7_HUMAN)
- cDNA FLJ53260, highly similar to Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane, transcript variant 2, mRNA (B4E0L6_HUMAN)
- Neutral sphingomyelinase III (NSMA3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for SMPD4 Gene
Function for SMPD4 Gene
Molecular function for SMPD4 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by phosphatidylserine and tumor necrosis factor (TNF). Inhibited by scyphostatin.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- pH dependence: Optimum pH is 7.0. {ECO:0000269 PubMed:16517606};
- UniProtKB/Swiss-Prot Induction:
- Expression is induced by DNA-damage and TNF.
Enzyme Numbers (IUBMB) for SMPD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004767 | sphingomyelin phosphodiesterase activity | TAS | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0050290 | sphingomyelin phosphodiesterase D activity | IDA | 16517606 |
Phenotypes for SMPD4 Gene
- MGI mutant phenotypes for SMPD4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SMPD4:
Animal Models for SMPD4 Gene
- MGI Knock Outs for SMPD4:
-
- Smpd4 Smpd4<tm2b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMPD4
-
CRISPR Products
-
OriGene CRISPR knockouts for SMPD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMPD4
- genomics-online: gRNA clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
- Applied Biological Materials CRISPR for SMPD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMPD4
- GenScript: Design CRISPR guide RNA sequences for SMPD4
miRNA for SMPD4 Gene
- miRTarBase miRNAs that target SMPD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMPD4
- Browse OriGene Inhibitory RNA Products For SMPD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMPD4
- genomics-online: shRNA clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
Clone Products
-
OriGene ORF clones in human for SMPD4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMPD4
- VectorBuilder custom plasmid, inducible vectors for SMPD4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMPD4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMPD4
- Applied Biological Materials Clones for SMPD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SMPD4
No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMPD4 Gene
Localization for SMPD4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMPD4 Gene
- Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 4 |
| plasma membrane | 3 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| lysosome | 1 |
- Cytosol (2)
- Nuclear membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IDA | 16517606 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IDA | 16517606 |
| GO:0005802 | trans-Golgi network | IDA | 16517606 |
Pathways & Interactions for SMPD4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Sphingolipid metabolism | ||
Pathways by source for SMPD4 Gene
4 Reactome pathways for SMPD4 Gene
2 KEGG pathways for SMPD4 Gene
Interacting Proteins for SMPD4 Gene
Selected Interacting proteins:
ENSP00000386531
Q9NXE4-NSMA3_HUMAN
for SMPD4 Gene via
STRING
IID
MINT
GPS-Prot Interaction Network for SMPD4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006685 | sphingomyelin catabolic process | IDA | 16517606 |
| GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
| GO:0046475 | glycerophospholipid catabolic process | IDA | 16517606 |
| GO:0046513 | ceramide biosynthetic process | IDA | 16517606 |
| GO:0071356 | cellular response to tumor necrosis factor | IDA | 16517606 |
No data available for SIGNOR curated interactions for SMPD4 Gene
Drugs & Compounds for SMPD4 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
Transcripts for SMPD4 Gene
mRNA/cDNA for SMPD4 Gene
- (10) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (441) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000454468 3586 bps (uc061nsm.1)
- ENST00000412570 3601 bps (uc061nsn.1)
- ENST00000433118 3335 bps (uc061nso.1)
- ENST00000351288 3661 bps (uc002tqr.3)
- ENST00000491128 2570 bps (uc061nsp.1)
Unigene Clusters for SMPD4 Gene
- Sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SMPD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMPD4
- genomics-online: gRNA clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
- Applied Biological Materials CRISPR for SMPD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMPD4
- GenScript: Design CRISPR guide RNA sequences for SMPD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMPD4
- Browse OriGene Inhibitory RNA Products For SMPD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMPD4
- genomics-online: shRNA clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
Clone Products
-
OriGene ORF clones in human for SMPD4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMPD4
- VectorBuilder custom plasmid, inducible vectors for SMPD4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMPD4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMPD4
- Applied Biological Materials Clones for SMPD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SMPD4 Gene
This gene is overexpressed in Bone (8.8) and Peripheral blood mononuclear cells (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMPD4 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SMPD4 Gene:
SMPD4SOURCE GeneReport for Unigene cluster for SMPD4 Gene:
Hs.516450mRNA Expression by UniProt/SwissProt for SMPD4 Gene:
Q9NXE4-NSMA3_HUMAN
Tissue specificity:
Widely expressed, with highest levels in heart and skeletal muscle.
Evidence on tissue expression from TISSUES for SMPD4 Gene
- Nervous system(4.9)
- Lung(4.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for SMPD4
-
OriGene qPCR primer pairs for SMPD4
- genomics-online: primer clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMPD4 Gene
Orthologs for SMPD4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SMPD4 33 |
|
||
| dog (Canis familiaris) |
Mammalia | SMPD4 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Smpd4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Smpd4 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | SMPD4 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SMPD4 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | SMPD4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SMPD4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smpd4 33 |
|
||
| Str.6070 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4713 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | smpd4 34 33 |
|
OneToOne | |
| wufb22d05 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4009 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000405 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6962 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for SMPD4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for SMPD4 Gene
- ENSEMBL:
- Gene Tree for SMPD4 (if available)
- TreeFam:
- Gene Tree for SMPD4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMPD4: view image
Paralogs for SMPD4 Gene
Pseudogenes.org Pseudogenes for SMPD4 Gene
No data available for Paralogs for SMPD4 Gene
Variants for SMPD4 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs879255412 | uncertain-significance, not specified | 130,154,461(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000136066 | -- | 130,180,891(-) | G/T | intron_variant | |
| rs1000285877 | -- | 130,154,163(-) | G/T | intron_variant | |
| rs1000387399 | -- | 130,154,602(-) | C/T | intron_variant | |
| rs1000536099 | -- | 130,182,056(-) | G/A/C | genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2032n106 | OTHER | inversion | 24896259 |
| dgv4072n100 | CNV | loss | 25217958 |
| dgv4073n100 | CNV | gain | 25217958 |
| dgv7079n54 | CNV | loss | 21841781 |
| esv2751826 | CNV | gain | 17911159 |
| esv2759092 | CNV | gain+loss | 17122850 |
| esv2760631 | CNV | gain+loss | 21179565 |
| esv2763387 | CNV | loss | 21179565 |
| esv3584065 | CNV | loss | 25503493 |
| esv3592440 | CNV | loss | 21293372 |
| esv3592441 | CNV | gain | 21293372 |
| esv3893326 | CNV | gain | 25118596 |
| nsv1001337 | CNV | loss | 25217958 |
| nsv1004301 | CNV | loss | 25217958 |
| nsv1005664 | CNV | loss | 25217958 |
| nsv1008911 | CNV | gain | 25217958 |
| nsv1008970 | CNV | loss | 25217958 |
| nsv1011360 | CNV | loss | 25217958 |
| nsv428403 | CNV | loss | 18775914 |
| nsv459274 | CNV | loss | 19166990 |
| nsv482053 | CNV | gain | 20164927 |
| nsv520559 | CNV | gain+loss | 19592680 |
| nsv583046 | CNV | loss | 21841781 |
| nsv583113 | CNV | gain | 21841781 |
| nsv7327 | OTHER | inversion | 18451855 |
| nsv821629 | CNV | loss | 15273396 |
| nsv834375 | CNV | loss | 17160897 |
| nsv961882 | CNV | duplication | 23825009 |
| nsv998333 | CNV | gain+loss | 25217958 |
Residual Variation Intolerance Score:
40.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.24;
52.56% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMPD4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SMPD4
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMPD4 Gene
Disorders for SMPD4 Gene
Additional Disease Information for SMPD4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for SMPD4 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMPD4 Gene
Publications for SMPD4 Gene
- Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein. (PMID: 16517606) Krut O … Krönke M (The Journal of biological chemistry 2006) 2 3 4 25 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- Neutral sphingomyelinase-3 is a DNA damage and nongenotoxic stress-regulated gene that is deregulated in human malignancies. (PMID: 18505924) Corcoran CA … Sheikh MS (Molecular cancer research : MCR 2008) 3 4 58
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
Products for SMPD4 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
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- Browse Proteome Profiler Antibody Arrays
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- Custom Antibody ServicesOriGene Antibodies for SMPD4
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SMPD4
- Search Origene for MassSpec and Protein Over-expression Lysates for SMPD4
- Origene Custom Protein Services for SMPD4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMPD4
- Browse OriGene Inhibitory RNA Products For SMPD4
- OriGene qPCR primer pairs and template standards for SMPD4
- OriGene qPCR primer pairs for SMPD4
- OriGene CRISPR knockouts for SMPD4
- OriGene ORF clones in human for SMPD4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SMPD4
- GenScript: Next-day shipping of latest version cDNA ORF clones for SMPD4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SMPD4
- GenScript Custom Assay Services for SMPD4
- GenScript Custom overexpressing Cell Line Services for SMPD4
- GenScript: Design CRISPR guide RNA sequences for SMPD4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SMPD4
- Sino Biological Human cDNA Clone for SMPD4
- Browse Sino Biological Recombinant Proteins
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- Browse cDNA Clones
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SMPD4
- Novus Biologicals proteins for SMPD4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMPD4
- VectorBuilder custom plasmid, inducible vectors for SMPD4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMPD4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 23 available SMPD4 Antibodies ranked by validation data
- Compare Top SMPD4 Antibodies
- antibodies-online: Search results for available SMPD4 related products ranked by validation data
- antibodies-online: Search results for available SMPD4 related products ranked by validation data
- genomics-online: cdna clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
- orf clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
- genomics-online: gRNA clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
- genomics-online: primer clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
- genomics-online: shRNA clones - Search results for 116 available SMPD4 gene related products
- Overview of 116 available SMPD4 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMPD4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMPD4
- GeneCopoeia miRNA 3'UTR Target clone products for SMPD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMPD4
- Boster Bio Antibodies for SMPD4
- Browse Boster Bio ELISA Kits
Sources for SMPD4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt