CERS6 (ceramide synthase 6)

2011-07-01 Affiliation

Identity

HGNC

CERS6

LOCATION

2q24.3

LOCUSID

253782

ALIAS

CERS5,LASS6

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 253782
MIM: 615336
HGNC: 23826
Ensembl: ENSG00000172292

Variants:

dbSNP: 253782
ClinVar: 253782
TCGA: ENSG00000172292
COSMIC: CERS6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000172292	ENST00000305747	Q6ZMG9
ENSG00000172292	ENST00000392687	Q6ZMG9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Sphingolipid metabolism	KEGG	ko00600
Sphingolipid metabolism	KEGG	hsa00600
Metabolic pathways	KEGG	hsa01100
Ceramide biosynthesis	KEGG	M00094
Sphingosine biosynthesis	KEGG	M00099
Ceramide biosynthesis	KEGG	hsa_M00094
Sphingosine biosynthesis	KEGG	hsa_M00099
Sphingolipid signaling pathway	KEGG	hsa04071
Sphingolipid signaling pathway	KEGG	ko04071
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Sphingolipid de novo biosynthesis	REACTOME	R-HSA-1660661

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA164713366	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Chemical	ClinicalAnnotation	associated		PD
PA443434	Arthritis, Rheumatoid	Disease	ClinicalAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
19723703	2010	Antiapoptotic roles of ceramide-synthase-6-generated C16-ceramide via selective regulation of the ATF6/CHOP arm of ER-stress-response pathways.	103
20406683	2010	Ceramide synthases 2, 5, and 6 confer distinct roles in radiation-induced apoptosis in HeLa cells.	84
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20103619	2010	PERK-dependent regulation of ceramide synthase 6 and thioredoxin play a key role in mda-7/IL-24-induced killing of primary human glioblastoma multiforme cells.	40
22013072	2011	Alteration of ceramide synthase 6/C16-ceramide induces activating transcription factor 6-mediated endoplasmic reticulum (ER) stress and apoptosis via perturbation of cellular Ca2+ and ER/Golgi membrane network.	37
23519469	2013	Folate stress induces apoptosis via p53-dependent de novo ceramide synthesis and up-regulation of ceramide synthase 6.	24
25766330	2015	Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6.	22
19912991	2010	Increased ceramide synthase 2 and 6 mRNA levels in breast cancer tissues and correlation with sphingosine kinase expression.	21
23538298	2013	The equilibrium between long and very long chain ceramides is important for the fate of the cell and can be influenced by co-expression of CerS.	17
27302066	2016	CerS6 Is a Novel Transcriptional Target of p53 Protein Activated by Non-genotoxic Stress.	12

Citation

Dessen P

CERS6 (ceramide synthase 6)

Atlas Genet Cytogenet Oncol Haematol. 2011-07-01

Online version: http://atlasgeneticsoncology.org/gene/52298/cers6