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This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] See more...
Aliases for CERS2 Gene
Aliases for CERS2 Gene
External Ids for CERS2 Gene
- HGNC: 14076
- NCBI Entrez Gene: 29956
- Ensembl: ENSG00000143418
- OMIM®: 606920
- UniProtKB/Swiss-Prot: Q96G23
Previous HGNC Symbols for CERS2 Gene
- LASS2
Summaries for CERS2 Gene
-
This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for CERS2 Gene
CERS2 (Ceramide Synthase 2) is a Protein Coding gene. Diseases associated with CERS2 include Myoclonic Epilepsy, Juvenile 3 and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS3.
UniProtKB/Swiss-Prot Summary for CERS2 Gene
-
Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) chain as acyl donor.
Additional gene information for CERS2 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CERS2 Gene
Genomics for CERS2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CERS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CERS2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CERS2
Genomic Locations for CERS2 Gene
Latest Assembly
- chr1:150,960,583-150,975,003
- (GRCh38/hg38)
- Size:
- 14,421 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:150,937,662-150,947,311
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 9,650 bases
- Orientation:
- Minus strand
Genomic View for CERS2 Gene
Genes around CERS2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q21.3 by HGNC
- 1q21.3 by Entrez Gene
- 1q21.3 by Ensembl
CERS2 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 CERS2 Gene
Proteins for CERS2 Gene
-
Protein details for CERS2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96G23-CERS2_HUMAN
- Recommended name:
- Ceramide synthase 2
- Protein Accession:
- Q96G23
- D3DV06
- Q5SZE5
- Q9HD96
- Q9NW79
Protein attributes for CERS2 Gene
- Size:
- 380 amino acids
- Molecular mass:
- 44876 Da
- Quaternary structure:
-
- Interacts with ATP6V0C, ASGR1, ASGR2 and SLC22A1/OCT1 (PubMed:11543633). Interacts with ELOV1, HSD17B12 and TECR (PubMed:20937905).
- SequenceCaution:
-
- Sequence=BAA91505.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for CERS2 Gene
Post-translational modifications for CERS2 Gene
- Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation.
- Phosphorylated at the C-terminus by CK2, leading to increase the ceramide synthase activity.
-
Glycosylation at Asn19
- NX_Q96G23 (NX_Q96G23-1)
-
Ubiquitination at Lys93 and Lys96
- NX_Q96G23 (NX_Q96G23-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- CERS2_HUMAN (1105)
Other Protein References for CERS2 Gene
Antibodies for research
- LifeSpan BioSciences L3 / LASS2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CERS2
- Novus Biologicals Antibodies for CERS2
-
Abcam antibodies for CERS2
- Invitrogen Antibodies for CERS2 (AFLGC-CERS2)
-
Biorbyt antibodies for CERS2
-
Custom Antibody ServicesProSci Antibodies for CERS2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CERS2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for CERS2
- Origene Custom Protein Services for CERS2
- antibodies-online: Show 6 available CERS2 Proteins ranked by validation data
- Compare Top CERS2 Proteins
-
Quality Products:
-
Abcam proteins for CERS2
Assay products for research
- antibodies-online: Show 7 available CERS2 Elisa Kits ranked by validation data
- Compare Top CERS2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CERS2 Gene
Domains & Families for CERS2 Gene
Gene Families for CERS2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for CERS2 Gene
- InterPro:
- Blocks:
-
- Longevity-assurance protein (LAG1)
- TRAM, LAG1 and CLN8 homology
Suggested Antigen Peptide Sequences for CERS2 Gene
- GenScript: Design optimal peptide antigens:
-
- Tumor metastasis-suppressor gene 1 protein (LASS2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96G23UniProtKB/Swiss-Prot:
CERS2_HUMAN :- The last loop motif confers selectivity toward behenoyl-CoA (docosanoyl-CoA; C22:0-CoA) and lignoceroyl-CoA (tetracosanoyl-CoA; C24:0-CoA) as acyl donors.
- Domain:
-
- The last loop motif confers selectivity toward behenoyl-CoA (docosanoyl-CoA; C22:0-CoA) and lignoceroyl-CoA (tetracosanoyl-CoA; C24:0-CoA) as acyl donors.
Function for CERS2 Gene
Molecular function for CERS2 Gene
- UniProtKB/Swiss-Prot Function:
- Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) chain as acyl donor.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=docosanoyl-CoA + sphinganine = CoA + H(+) + N-docosanoylsphinganine; Xref=Rhea:RHEA:36535, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65059, ChEBI:CHEBI:67021; Evidence={ECO:0000269|PubMed:18165233, ECO:0000269|PubMed:22144673, ECO:0000269|PubMed:29632068};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=sphinganine + tetracosanoyl-CoA = CoA + H(+) + N-tetracosanoylsphinganine; Xref=Rhea:RHEA:33591, ChEBI:CHEBI:15378, ChEBI:CHEBI:52961, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65052; Evidence={ECO:0000269|PubMed:12869556, ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:18165233, ECO:0000269|PubMed:18541923, ECO:0000269|PubMed:29632068};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=hexacosanoyl-CoA + sphinganine = CoA + H(+) + N-hexacosanoylsphinganine; Xref=Rhea:RHEA:33351, ChEBI:CHEBI:15378, ChEBI:CHEBI:52962, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:64868; Evidence={ECO:0000269|PubMed:12869556, ECO:0000269|PubMed:18165233};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(15Z)-tetracosenoyl-CoA + sphinganine = CoA + H(+) + N-(15Z-tetracosenoyl)-sphinganine; Xref=Rhea:RHEA:36667, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74128, ChEBI:CHEBI:74130; Evidence={ECO:0000269|PubMed:18165233, ECO:0000269|PubMed:22661289, ECO:0000269|PubMed:26887952};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-hydroxytetracosanoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxytetracosanoyl)-sphinganine; Xref=Rhea:RHEA:36627, ChEBI:CHEBI:15378, ChEBI:CHEBI:52371, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74118; Evidence={ECO:0000269|PubMed:18541923};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-hydroxydocosanoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxydocosanoyl)-sphinganine; Xref=Rhea:RHEA:36619, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:67023, ChEBI:CHEBI:74117; Evidence={ECO:0000269|PubMed:18541923};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-hydroxytetracosenoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxytetracosenoyl)-sphinganine; Xref=Rhea:RHEA:36767, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74215, ChEBI:CHEBI:74216; Evidence={ECO:0000269|PubMed:18541923};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=sphinganine + tetracosenoyl-CoA = an N-tetracosenoylsphinganine + CoA + H(+); Xref=Rhea:RHEA:36715, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74146, ChEBI:CHEBI:74160; Evidence={ECO:0000269|PubMed:18541923};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=eicosanoyl-CoA + sphinganine = CoA + H(+) + N-eicosanoylsphinganine; Xref=Rhea:RHEA:36555, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57817, ChEBI:CHEBI:67027; Evidence={ECO:0000269|PubMed:12869556, ECO:0000269|PubMed:18165233};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=hexacosenoyl-CoA + sphinganine = CoA + H(+) + N-hexacosenoylsphinganine; Xref=Rhea:RHEA:36719, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74161, ChEBI:CHEBI:74162; Evidence={ECO:0000269|PubMed:18165233};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a fatty acyl-CoA + sphing-4-enine = an N-acylsphing-4-enine + CoA + H(+); Xref=Rhea:RHEA:23768, ChEBI:CHEBI:15378, ChEBI:CHEBI:52639, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:77636; EC=2.3.1.24; Evidence={ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=sphing-4-enine + tetracosanoyl-CoA = CoA + H(+) + N-tetracosanoyl-sphing-4-enine; Xref=Rhea:RHEA:37115, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:65052, ChEBI:CHEBI:72965; Evidence={ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=sphing-4-enine + tetracosenoyl-CoA = CoA + H(+) + N-(tetracosenoyl)-sphing-4-enine; Xref=Rhea:RHEA:37123, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:74146, ChEBI:CHEBI:74457; Evidence={ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=heptadecasphing-4-enine + tetracosanoyl-CoA = CoA + H(+) + N-tetracosanoyl-heptadecasphing-4-enine; Xref=Rhea:RHEA:36739, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:65052, ChEBI:CHEBI:74166, ChEBI:CHEBI:74167; Evidence={ECO:0000269|PubMed:19728861};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=hexadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N-hexadecanoylsphing-4-enine; Xref=Rhea:RHEA:36687, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57756, ChEBI:CHEBI:72959; Evidence={ECO:0000250|UniProtKB:Q924Z4};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=octadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N-octadecanoylsphing-4-enine; Xref=Rhea:RHEA:36691, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence={ECO:0000250|UniProtKB:Q924Z4};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=eicosanoyl-CoA + sphing-4-enine = CoA + H(+) + N-eicosanoyl-sphing-4-enine; Xref=Rhea:RHEA:45284, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57756, ChEBI:CHEBI:72962; Evidence={ECO:0000250|UniProtKB:Q924Z4};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=hexadecanoyl-CoA + sphinganine = CoA + H(+) + N-hexadecanoylsphinganine; Xref=Rhea:RHEA:36539, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57817, ChEBI:CHEBI:67042; Evidence={ECO:0000269|PubMed:12869556};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(9Z)-octadecenoyl-CoA + sphinganine = CoA + H(+) + N-(9Z-octadecenoyl)-sphinganine; Xref=Rhea:RHEA:36575, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:57817, ChEBI:CHEBI:74100; Evidence={ECO:0000269|PubMed:12869556};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=4.8 uM for sphinganine {ECO:0000269|PubMed:17977534}; KM=1.07 uM for sphingosine {ECO:0000269|PubMed:26887952}; KM=62.9 uM for (15Z)-tetracosenoyl-CoA {ECO:0000269|PubMed:26887952}; Vmax=0.51 pmol/min/ug enzyme with sphingosine as substrate {ECO:0000269|PubMed:26887952}; Vmax=0.76 pmol/min/ug enzyme with (15Z)-tetracosenoyl-CoA as substrate {ECO:0000269|PubMed:26887952};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Ceramide synthase activity is inhibited by sphingosine-1-phosphate.
Enzyme Numbers (IUBMB) for CERS2 Gene
Phenotypes From GWAS Catalog for CERS2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 11543633 |
| GO:0016410 | N-acyltransferase activity | IBA | 21873635 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0050291 | sphingosine N-acyltransferase activity | IEA,IDA | 17977534 |
Phenotypes for CERS2 Gene
- MGI mutant phenotypes for CERS2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CERS2:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CERS2 - Starting at $85 >
- * CERS2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CERS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CERS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CERS2
miRNA for CERS2 Gene
- miRTarBase miRNAs that target CERS2
-
- hsa-miR-124-3p (MIRT002726)
- hsa-miR-1-3p (MIRT002754)
- mmu-miR-124-3p (MIRT003929)
- hsa-miR-221-3p (MIRT006917)
- hsa-miR-222-3p (MIRT006918)
- hsa-miR-9-5p (MIRT021462)
- hsa-miR-133a-3p (MIRT021707)
- hsa-miR-101-3p (MIRT027344)
- hsa-miR-93-5p (MIRT028158)
- hsa-miR-625-5p (MIRT039594)
- hsa-miR-20a-5p (MIRT050621)
- hsa-miR-1257 (MIRT479324)
- hsa-miR-219a-2-3p (MIRT479325)
- hsa-miR-219b-3p (MIRT479326)
- hsa-miR-4330 (MIRT479327)
- hsa-miR-5195-5p (MIRT479328)
- hsa-miR-5571-5p (MIRT479329)
- hsa-miR-8066 (MIRT479330)
- hsa-miR-651-3p (MIRT479331)
- hsa-miR-613 (MIRT479332)
- hsa-miR-206 (MIRT479333)
- hsa-miR-659-3p (MIRT507733)
- hsa-miR-6736-5p (MIRT507734)
- hsa-miR-4701-3p (MIRT507735)
- hsa-miR-1262 (MIRT507736)
- hsa-miR-6857-5p (MIRT507737)
- hsa-miR-4504 (MIRT507738)
- hsa-miR-299-5p (MIRT507739)
- hsa-miR-4450 (MIRT507740)
- hsa-miR-5191 (MIRT507741)
- hsa-miR-6776-5p (MIRT507742)
- hsa-miR-8089 (MIRT507743)
- hsa-miR-4700-5p (MIRT507744)
- hsa-miR-4667-5p (MIRT507745)
- hsa-miR-6852-5p (MIRT507746)
- hsa-miR-5002-5p (MIRT507747)
- hsa-miR-4478 (MIRT507748)
- hsa-miR-4419b (MIRT507749)
- hsa-miR-3929 (MIRT507750)
- hsa-miR-7851-3p (MIRT507751)
- hsa-miR-4484 (MIRT507752)
- hsa-miR-6768-3p (MIRT507753)
- hsa-miR-548an (MIRT507754)
- hsa-miR-29b-2-5p (MIRT568061)
- hsa-miR-1253 (MIRT736536)
- hsa-miR-1827 (MIRT738089)
- hsa-miR-2682-5p (MIRT739413)
- hsa-miR-3173-3p (MIRT740609)
- hsa-miR-3179 (MIRT740721)
- hsa-miR-3202 (MIRT741133)
- hsa-miR-34b-5p (MIRT741454)
- hsa-miR-3612 (MIRT741554)
- hsa-miR-3919 (MIRT742942)
- hsa-miR-4271 (MIRT743612)
- hsa-miR-449c-5p (MIRT745452)
- hsa-miR-4695-5p (MIRT747168)
- hsa-miR-4709-3p (MIRT747377)
- hsa-miR-4716-3p (MIRT747481)
- hsa-miR-4725-3p (MIRT747693)
- hsa-miR-4747-5p (MIRT748228)
- hsa-miR-5196-5p (MIRT750012)
- hsa-miR-5197-3p (MIRT750082)
- hsa-miR-6077 (MIRT751695)
- hsa-miR-650 (MIRT753002)
- hsa-miR-6780b-5p (MIRT755624)
- hsa-miR-6794-5p (MIRT756081)
- hsa-miR-6873-5p (MIRT758059)
- hsa-miR-6891-5p (MIRT758667)
- hsa-miR-765 (MIRT759547)
- hsa-miR-9500 (MIRT760876)
- hsa-miR-1288-5p (MIRT762251)
- hsa-miR-3684 (MIRT766771)
- hsa-miR-5100 (MIRT773310)
- hsa-miR-7161-3p (MIRT781667)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CERS2
- Browse OriGene Inhibitory RNA Products For CERS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS2
Clone products for research
- Applied Biological Materials (abm): Clones for CERS2 - Starting at $45 >
- * CERS2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG205931
- MR205931
- MR205931L1
- MR205931L2
- MR205931L3
- MR205931L4
- RC200145
- RC200145L3
- RC200145L4
- RC215300
- RC215300L1
- RC215300L2
- RC215300L3
- RC215300L4
- RG200145
- RG215300
- RR202144
- RR202144L3
- RR202144L4
- MR205931L1V
- MR205931L2V
- MR205931L3V
- MR205931L4V
- RC200145L3V
- RC200145L4V
- RC215300L1V
- RC215300L2V
- RC215300L3V
- RC215300L4V
- RR202144L3V
- RR202144L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CERS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CERS2
Cell Lines for research
-
Horizon Cell Lines for CERS2
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CERS2 Gene
Localization for CERS2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CERS2 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
- Endoplasmic reticulum (3)
- Nuclear membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IBA,IDA | 18165233 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for CERS2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Sphingolipid signaling pathway | ||
Pathways by source for CERS2 Gene
1 BioSystems pathway for CERS2 Gene
4 Reactome pathways for CERS2 Gene
3 KEGG pathways for CERS2 Gene
UniProtKB/Swiss-Prot Q96G23-CERS2_HUMAN
- Pathway: Lipid metabolism; sphingolipid metabolism.
Interacting Proteins for CERS2 Gene
Selected Interacting proteins:
Q96G23-CERS2_HUMAN
ENSP00000271688
for CERS2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CERS2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006665 | sphingolipid metabolic process | IEA | -- |
| GO:0030148 | sphingolipid biosynthetic process | IEA,TAS | -- |
| GO:0046513 | ceramide biosynthetic process | IEA,IDA | 17977534 |
| GO:0048681 | negative regulation of axon regeneration | IEA,ISS | -- |
No data available for SIGNOR curated interactions for CERS2 Gene
Transcripts for CERS2 Gene
mRNA/cDNA for CERS2 Gene
- 3 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000271688 2544 nts (view in UCSC)
- ENST00000345896 2170 nts (view in UCSC)
- ENST00000361419 997 nts (view in UCSC)
- ENST00000368949 1002 nts (view in UCSC)
- ENST00000368954 2323 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CERS2 - Starting at $85 >
- * CERS2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CERS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CERS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CERS2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CERS2
- Browse OriGene Inhibitory RNA Products For CERS2
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- Applied Biological Materials (abm): Clones for CERS2 - Starting at $45 >
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- MG205931
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| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - |
| ExUns: | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: | |||||||||||
| SP6: | |||||||||||
| SP7: | |||||||||||
| SP8: | - | - | |||||||||
| SP9: | |||||||||||
| SP10: | |||||||||||
| SP11: | |||||||||||
| SP12: |
Relevant External Links for CERS2 Gene
- GeneLoc Exon Structure for
- CERS2
Expression for CERS2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Pancreas (Endocrine System)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CERS2 Gene
This gene is overexpressed in Liver (x5.5).
This gene is overexpressed in Liver (7.2) and Bone (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CERS2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CERS2
SOURCE GeneReport for Unigene cluster for CERS2 Gene:
Hs.744017mRNA Expression by UniProt/SwissProt for CERS2 Gene:
Q96G23-CERS2_HUMAN
Tissue specificity:
Expressed in kidney, liver, brain, heart, placenta and lung.
Evidence on tissue expression from TISSUES for CERS2 Gene
- Liver(4.7)
- Kidney(4.6)
- Skin(4.5)
- Blood(4.4)
- Nervous system(3.1)
- Lung(2.7)
- Adrenal gland(2.6)
- Intestine(2.5)
- Muscle(2.5)
- Heart(2.5)
- Stomach(2.5)
- Thyroid gland(2.4)
- Lymph node(2.4)
- Gall bladder(2.3)
- Pancreas(2.3)
- Spleen(2.2)
- Bone marrow(2.2)
Primer products for research
-
OriGene qPCR primer pairs for CERS2
-
OriGene qPCR primer pairs and template standards for CERS2
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CERS2 Gene
Orthologs for CERS2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LASS2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CERS2 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CERS2 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CERS2 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CERS2 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cers2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cers2 29 16 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| LOC100859441 29 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | CERS2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cers2 29 |
|
||
| Str.6992 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | cers2a 29 30 |
|
OneToMany | |
| cers2b 30 |
|
OneToMany | |||
| trh3 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | schlank 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | hyl-1 30 |
|
ManyToMany | |
| hyl-2 30 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAC1 32 |
|
|
|
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | LAG13 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0581300 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany |
- Species where no ortholog for CERS2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for CERS2 Gene
- ENSEMBL:
- Gene Tree for CERS2 (if available)
- TreeFam:
- Gene Tree for CERS2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CERS2: view image
- Alliance of Genome Resources:
- Additional Orthologs for CERS2
Paralogs for CERS2 Gene
(5) SIMAP similar genes for CERS2 Gene using alignment to 9 proteins:
- CERS2_HUMAN
- H0YKH6_HUMAN
- H0YLQ6_HUMAN
- H0YNU7_HUMAN
- Q5SZE1_HUMAN
- Q5SZE2_HUMAN
- Q5SZE3_HUMAN
- Q5SZE4_HUMAN
- Q5SZE6_HUMAN
Variants for CERS2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CERS2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1571673661 | Uncertain Significance: Marfanoid habitus and intellectual disability | 150,968,135(-) |
G/A NM_022075.5(CERS2):c.358C>T (p.Arg120Cys) |
MISSENSE | |
| rs76805488 | Benign: not provided | 150,967,832(-) |
G/A NM_022075.5(CERS2):c.456C>T (p.Ala152=) |
SYNONYMOUS | |
| rs78875607 | Benign: not provided | 150,967,407(-) |
A/G NM_022075.5(CERS2):c.597T>C (p.Ser199=) |
SYNONYMOUS | |
| rs9435954 | Benign: not provided | 150,966,842(-) |
G/A NM_022075.5(CERS2):c.762C>T (p.Tyr254=) |
SYNONYMOUS | |
| rs267738 | -- |
p.Glu115Ala |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1008496 | CNV | gain | 25217958 |
| nsv1142781 | CNV | deletion | 24896259 |
| nsv522317 | CNV | loss | 19592680 |
| nsv522840 | CNV | gain | 19592680 |
| nsv952804 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.85;
67.29% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CERS2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERS2 Gene
Disorders for CERS2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myoclonic epilepsy, juvenile 3 |
|
|
| hereditary sensory and autonomic neuropathy type 1 |
|
|
Search CERS2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CERS2
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CERS2 Gene
Publications for CERS2 Gene
- Cloning, mapping, and characterization of a human homologue of the yeast longevity assurance gene LAG1. (PMID: 11543633) Pan H … Gu JR (Genomics 2001) 2 3 4 22
- Eleven residues determine the acyl chain specificity of ceramide synthases. (PMID: 29632068) Tidhar R … Futerman AH (The Journal of biological chemistry 2018) 3 4
- Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region. (PMID: 26887952) Sassa T … Kihara A (The Journal of biological chemistry 2016) 3 4
- ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
- Disruption of ceramide synthesis by CerS2 down-regulation leads to autophagy and the unfolded protein response. (PMID: 19728861) Spassieva SD … Obeid LM (The Biochemical journal 2009) 3 4
ExternalLinks
Products for CERS2 Gene
- Custom Antibody ServicesOriGene Antibodies for CERS2
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for CERS2
- Browse OriGene Inhibitory RNA Products For CERS2
- OriGene qPCR primer pairs for CERS2
- OriGene qPCR primer pairs and template standards for CERS2
- OriGene CRISPR knockouts for CERS2
- MG205931
- MR205931
- MR205931L1
- MR205931L2
- MR205931L3
- MR205931L4
- RC200145
- RC200145L3
- RC200145L4
- RC215300
- RC215300L1
- RC215300L2
- RC215300L3
- RC215300L4
- RG200145
- RG215300
- RR202144
- RR202144L3
- RR202144L4
- MR205931L1V
- MR205931L2V
- MR205931L3V
- MR205931L4V
- RC200145L3V
- RC200145L4V
- RC215300L1V
- RC215300L2V
- RC215300L3V
- RC215300L4V
- RR202144L3V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for CERS2
- Browse Antibodies
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- Abcam antibodies for CERS2
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- Find your target
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- Invitrogen Antibodies for CERS2 (AFLGC-CERS2)
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- antibodies-online: Show 12 available CERS2 Antibodies ranked by validation data
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- Quality Products:
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- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for CERS2
- Search Santa Cruz Biotechnology (SCBT) for CERS2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CERS2
- Horizon Cell Lines for CERS2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CERS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CERS2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CERS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS2
- Biorbyt antibodies for CERS2
Sources for CERS2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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