CERS2
Ceramide synthase 2
Also known as: CERS2_HUMAN, FLJ10243, LASS2, SP260
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96G23
- Gene
- CERS2
- Ensembl
- ENSG00000143418
- Chromosome
- 1
- Canonical length
- 380 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted membrane proteins
- Subcellular location
- Nuclear membrane,Endoplasmic reticulum
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
380 residues, UniProt reviewed canonical sequence.
>Q96G23|CERS2
1 MLQTLYDYFW WERLWLPVNL TWADLEDRDG RVYAKASDLY ITLPLALLFL IVRYFFELYV
61 ATPLAALLNI KEKTRLRAPP NATLEHFYLT SGKQPKQVEV ELLSRQSGLS GRQVERWFRR
121 RRNQDRPSLL KKFREASWRF TFYLIAFIAG MAVIVDKPWF YDMKKVWEGY PIQSTIPSQY
181 WYYMIELSFY WSLLFSIASD VKRKDFKEQI IHHVATIILI SFSWFANYIR AGTLIMALHD
241 SSDYLLESAK MFNYAGWKNT CNNIFIVFAI VFIITRLVIL PFWILHCTLV YPLELYPAFF
301 GYYFFNSMMG VLQLLHIFWA YLILRMAHKF ITGKLVEDER SDREETESSE GEEAAAGGGA
361 KSRPLANGHP ILNNNHRKNDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CERS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 684 nTPM
Expression across tissuesHPA
Tissue
- liver: 684 nTPM
- spinal cord: 290 nTPM
- adrenal gland: 259 nTPM
- kidney: 244 nTPM
- thyroid gland: 151 nTPM
- choroid plexus: 150 nTPM
Single-cell type
- platelets: 400 nCPM
- hepatocytes: 220 nCPM
- parietal cells: 154 nCPM
- alveolar cells type 1: 151 nCPM
- cholangiocytes: 125 nCPM
- alveolar cells type 2: 115 nCPM
Immune cell
- basophil: 213 nTPM
- eosinophil: 136 nTPM
- MAIT T-cell: 94 nTPM
- total PBMC: 89 nTPM
- neutrophil: 87 nTPM
- T-reg: 87 nTPM
Brain region
- white matter: 295 nTPM
- medulla oblongata: 263 nTPM
- cerebellum: 196 nTPM
- basal ganglia: 194 nTPM
- midbrain: 192 nTPM
- thalamus: 175 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.48
- gnomAD missense Z
- 1.76
- DepMap mean gene effect
- -0.29
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ceramide biosynthetic process
- glycosphingolipid biosynthetic process
- negative regulation of axon regeneration
- negative regulation of Schwann cell migration
- regulation of lipid metabolic process
- response to immobilization stress
- sphingolipid biosynthetic process
- negative regulation of Schwann cell proliferation involved in axon regeneration
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CERS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CERS2 as an antibody target. Whether an autoantibody or antibody against CERS2 could matter depends on whether native CERS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CERS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CERS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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