Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29956
Gene name Gene Name - the full gene name approved by the HGNC.
Ceramide synthase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CERS2
Synonyms (NCBI Gene) Gene synonyms aliases
L3, LASS2, SP260, TMSG1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez 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 growt
miRNA miRNA information provided by mirtarbase database.
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 assay, qRT-PCR, Western blot 22393241
MIRT006917 hsa-miR-221-3p Luciferase reporter assay, qRT-PCR, Western blot 22393241
MIRT006917 hsa-miR-221-3p Luciferase reporter assay, qRT-PCR, Western blot 22393241
Transcription factors
Transcription factor Regulation Reference
KLF6 Activation 22169644
SP1 Activation 22169644
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 11543633, 20195357, 20937905, 21988832, 32296183, 32911434
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005783 Component Endoplasmic reticulum IDA 18165233
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606920 14076 ENSG00000143418
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Rhegmatogenous retinal detachment Rhegmatogenous retinal detachment GWAS
Kidney Disease Kidney Disease GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Otosclerosis Otosclerosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Albuminuria Associate 25238615
Alzheimer Disease Associate 35454332
Attention Deficit Disorder with Hyperactivity Associate 32661301
Breast Neoplasms Inhibit 25501280
Breast Neoplasms Associate 25973015, 33568634
Carcinoma Hepatocellular Associate 27581744
Carcinoma Renal Cell Associate 34915026
Coronary Artery Disease Associate 37298446
COVID 19 Associate 37868972
Diabetes Mellitus Associate 25238615