Gene Gene information from NCBI Gene database.
Entrez ID 29956
Gene name Ceramide synthase 2
Gene symbol CERS2
Synonyms (NCBI Gene)
L3LASS2SP260TMSG1
Chromosome 1
Chromosome location 1q21.3
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 growt
miRNA miRNA information provided by mirtarbase database.
421
miRTarBase ID miRNA Experiments Reference
MIRT002754 hsa-miR-1-3p Microarray 15685193
MIRT002726 hsa-miR-124-3p Microarray 15685193
MIRT006917 hsa-miR-221-3p Luciferase reporter assayqRT-PCRWestern blot 22393241
MIRT006917 hsa-miR-221-3p Luciferase reporter assayqRT-PCRWestern blot 22393241
MIRT006917 hsa-miR-221-3p Luciferase reporter assayqRT-PCRWestern blot 22393241
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
KLF6 Activation 22169644
SP1 Activation 22169644
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 11543633, 20195357, 20937905, 21988832, 32296183, 32911434, 33961781
GO:0005783 Component Endoplasmic reticulum IDA 18165233
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606920 14076 ENSG00000143418
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96G23
Protein name Ceramide synthase 2 (CerS2) (LAG1 longevity assurance homolog 2) (SP260) (Sphingosine N-acyltransferase CERS2) (EC 2.3.1.24) (Tumor metastasis-suppressor gene 1 protein) (Very-long-chain ceramide synthase CERS2) (EC 2.3.1.297)
Protein function Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very-long-chain fatty acyl-CoA (chain length C22-C27) (PubMed:17977534, PubMed:18165233, PubMed:18541923, PubMed:1972
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 70 127 Homeodomain Domain
PF03798 TRAM_LAG1_CLN8 132 325 TLC domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney, liver, brain, heart, placenta and lung. {ECO:0000269|PubMed:11543633}.
Sequence
Sequence length 380
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Albuminuria Associate 25238615
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 35454332
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Associate 32661301
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Inhibit 25501280
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 25973015, 33568634
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 27581744
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 34915026
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Associate 37298446
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 37868972
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Associate 25238615
★☆☆☆☆
Found in Text Mining only