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CERS2 ceramide synthase 2 [ Homo sapiens (human) ]

Gene ID: 29956, updated on 3-Nov-2024

Summary

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Official Symbol
CERS2provided by HGNC
Official Full Name
ceramide synthase 2provided by HGNC
Primary source
HGNC:HGNC:14076
See related
Ensembl:ENSG00000143418 MIM:606920; AllianceGenome:HGNC:14076
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
L3; LASS2; SP260; TMSG1
Summary
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]
Expression
Ubiquitous expression in liver (RPKM 113.9), adrenal (RPKM 85.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See CERS2 in Genome Data Viewer
Location:
1q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150965186..150974835, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150088885..150098532, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150937662..150947311, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985204 Neighboring gene cortexin domain containing 2 Neighboring gene CYCS pseudogene 51 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150887442 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150889489 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150889877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150891209 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150903234 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150907955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150908639 Neighboring gene SET domain bifurcated histone lysine methyltransferase 1 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150910911 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150913142 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150916657 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150922512 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937329 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150945529-150946460 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150946490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1308 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:150949461-150949964 and GRCh37_chr1:150949965-150950466 Neighboring gene uncharacterized LOC105371438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150955292-150956153 Neighboring gene annexin A9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150970021-150970520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150980776-150981318 Neighboring gene MINDY lysine 48 deubiquitinase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Silencing of TMSG1 enhances metastasis capacity by targeting V-ATPase in breast cancer. Zi Y, et al. Int J Clin Exp Pathol, 2015. PMID 25973015, Free PMC Article
  2. Silencing of a novel tumor metastasis suppressor gene LASS2/TMSG1 promotes invasion of prostate cancer cell in vitro through increase of vacuolar ATPase activity. Xu X, et al. J Cell Biochem, 2012 Jul. PMID 22573553
  3. LASS2 enhances chemosensitivity of breast cancer by counteracting acidic tumor microenvironment through inhibiting activity of V-ATPase proton pump. Fan S, et al. Oncogene, 2013 Mar 28. PMID 22580606
  4. Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study. Nicholson RJ, et al. J Clin Endocrinol Metab, 2021 Jul 13. PMID 33705551, Free PMC Article
  5. Alternative splicing of ceramide synthase 2 alters levels of specific ceramides and modulates cancer cell proliferation and migration in Luminal B breast cancer subtype. Pani T, et al. Cell Death Dis, 2021 Feb 10. PMID 33568634, Free PMC Article

See all (118) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An E115A Missense Variant in CERS2 Is Associated With Increased Sleeping Energy Expenditure and Hepatic Insulin Resistance in American Indians.
    Title: An E115A Missense Variant in CERS2 Is Associated With Increased Sleeping Energy Expenditure and Hepatic Insulin Resistance in American Indians.
  2. LASS2 enhances chemosensitivity to cisplatin by inhibiting PP2A-mediated beta-catenin dephosphorylation in a subset of stem-like bladder cancer cells.
    Title: LASS2 enhances chemosensitivity to cisplatin by inhibiting PP2A-mediated β-catenin dephosphorylation in a subset of stem-like bladder cancer cells.
  3. [LASS2/TMSG1 overexpression inhibits proliferation and promotes apoptosis of human lung cancer A549 cells possibly by upregulating ceramide and p38 MAPK to activate a signaling cascade].
    Title: [LASS2/TMSG1 overexpression inhibits proliferation and promotes apoptosis of human lung cancer A549 cells possibly by upregulating ceramide and p38 MAPK to activate a signaling cascade].
  4. Hsa-miR-221-3p promotes proliferation and migration in HER2-positive breast cancer cells by targeting LASS2 and MBD2.
    Title: Hsa-miR-221-3p promotes proliferation and migration in HER2-positive breast cancer cells by targeting LASS2 and MBD2.
  5. LASS2 overexpression enhances early apoptosis of lung cancer cells through the caspasedependent pathway.
    Title: LASS2 overexpression enhances early apoptosis of lung cancer cells through the caspase‑dependent pathway.
  6. Dependence of ABCB1 transporter expression and function on distinct sphingolipids generated by ceramide synthases-2 and -6 in chemoresistant renal cancer.
    Title: Dependence of ABCB1 transporter expression and function on distinct sphingolipids generated by ceramide synthases-2 and -6 in chemoresistant renal cancer.
  7. Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study.
    Title: Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study.
  8. MicroRNA-20a Targeting LASS2 Promotes the Proliferation, Invasiveness and Migration of Bladder Cancer.
    Title: MicroRNA-20a Targeting LASS2 Promotes the Proliferation, Invasiveness and Migration of Bladder Cancer.
  9. Alternative splicing of ceramide synthase 2 alters levels of specific ceramides and modulates cancer cell proliferation and migration in Luminal B breast cancer subtype.
    Title: Alternative splicing of ceramide synthase 2 alters levels of specific ceramides and modulates cancer cell proliferation and migration in Luminal B breast cancer subtype.
  10. Ceramide synthase 2 deletion decreases the infectivity of HIV-1.
    Title: Ceramide synthase 2 deletion decreases the infectivity of HIV-1.
Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ceramide synthase 2 (CERS2; LASS2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC987, FLJ10243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sphingosine N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sphingosine N-acyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sphingosine N-acyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of Schwann cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of Schwann cell proliferation involved in axon regeneration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of axon regeneration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to immobilization stress IEA
Inferred from Electronic Annotation
more info
  
involved_in sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
ceramide synthase 2
Names
LAG1 homolog, ceramide synthase 2
LAG1 longevity assurance 2
longevity assurance (LAG1, S. cerevisiae) homolog 2
sphingosine N-acyltransferase CERS2
tumor metastasis-suppressor gene 1 protein
very-long-chain ceramide synthase CERS2
NP_071358.1
NP_859530.1
XP_011507753.1
XP_011507754.1
XP_054192174.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_022075.5 → NP_071358.1  ceramide synthase 2

    See identical proteins and their annotated locations for NP_071358.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL590133
    Consensus CDS
    CCDS973.1
    UniProtKB/Swiss-Prot
    D3DV06, Q5SZE5, Q96G23, Q9HD96, Q9NW79
    UniProtKB/TrEMBL
    A8K4M4
    Related
    ENSP00000357950.5, ENST00000368954.10
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  2. NM_181746.4 → NP_859530.1  ceramide synthase 2

    See identical proteins and their annotated locations for NP_859530.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL590133
    Consensus CDS
    CCDS973.1
    UniProtKB/Swiss-Prot
    D3DV06, Q5SZE5, Q96G23, Q9HD96, Q9NW79
    UniProtKB/TrEMBL
    A8K4M4
    Related
    ENSP00000271688.6, ENST00000271688.10
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    150965186..150974835 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509452.4 → XP_011507754.1  ceramide synthase 2 isoform X2

    See identical proteins and their annotated locations for XP_011507754.1

    UniProtKB/Swiss-Prot
    D3DV06, Q5SZE5, Q96G23, Q9HD96, Q9NW79
    UniProtKB/TrEMBL
    A8K4M4
    Conserved Domains (2) summary
    smart00724
    Location:131 → 332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71 → 128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  2. XM_011509451.3 → XP_011507753.1  ceramide synthase 2 isoform X1

    UniProtKB/TrEMBL
    A8K4M4
    Conserved Domains (2) summary
    smart00724
    Location:151 → 352
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:91 → 148
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150088885..150098532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336199.1 → XP_054192174.1  ceramide synthase 2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_013384.3: Suppressed sequence

    Description
    NM_013384.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96G23.1 GenPept UniProtKB/Swiss-Prot:Q96G23

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