Format

Send to:

Choose Destination

CERS2 ceramide synthase 2 [ Homo sapiens (human) ]

Gene ID: 29956, updated on 7-Jun-2020

Summary

Official Symbol
CERS2provided by HGNC
Official Full Name
ceramide synthase 2provided by HGNC
Primary source
HGNC:HGNC:14076
See related
Ensembl:ENSG00000143418 MIM:606920
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

Genomic context

See CERS2 in Genome Data Viewer
Location:
1q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150965173..150975003, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150937649..150947479, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cortexin domain containing 2 Neighboring gene uncharacterized LOC107985204 Neighboring gene CYCS pseudogene 51 Neighboring gene SET domain bifurcated histone lysine methyltransferase 1 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8492 Neighboring gene uncharacterized LOC105371438

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC987, FLJ10243

Gene Ontology Provided by GOA

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

General protein information

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
NP_071358.1
NP_859530.1
XP_011507753.1
XP_011507754.1

NCBI Reference Sequences (RefSeq)

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_022075.5NP_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
    Q96G23
    Related
    ENSP00000357950.5, ENST00000368954.9
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    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_181746.3NP_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)
    AK001105, BC001357, BM069521, BM764143, BU543940, R94703
    Consensus CDS
    CCDS973.1
    UniProtKB/Swiss-Prot
    Q96G23
    Related
    ENSP00000271688.6, ENST00000271688.10
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    150965173..150975003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509452.3XP_011507754.1  ceramide synthase 2 isoform X2

    See identical proteins and their annotated locations for XP_011507754.1

    UniProtKB/Swiss-Prot
    Q96G23
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    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_011509451.2XP_011507753.1  ceramide synthase 2 isoform X1

    Conserved Domains (2) summary
    smart00724
    Location:151352
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:91148
    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.

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.
Support Center