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Gene Gene information from NCBI Gene database.
Entrez ID 79603
Gene name Ceramide synthase 4
Gene symbol CERS4
Synonyms (NCBI Gene)
LASS4Trh1
Chromosome 19
Chromosome location 19p13.2
miRNA miRNA information provided by mirtarbase database.
186 Show/Hide all (186)
miRTarBase ID miRNA Experiments Reference
MIRT021339 hsa-miR-9-5p Microarray 17612493
MIRT712701 hsa-miR-512-3p HITS-CLIP 19536157
MIRT712700 hsa-miR-4501 HITS-CLIP 19536157
MIRT712699 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT712698 hsa-miR-1909-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19 Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615334 23747 ENSG00000090661
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HA82
Protein name Ceramide synthase 4 (CerS4) (EC 2.3.1.-) (LAG1 longevity assurance homolog 4) (Sphingosine N-acyltransferase CERS4) (EC 2.3.1.24)
Protein function Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor. {ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:23530041, ECO:0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 71 → 127 Homeodomain Domain
PF03798 TRAM_LAG1_CLN8 132 → 325 TLC domain Domain
Sequence
Sequence length 394
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Sphingolipid metabolism Sphingolipid de novo biosynthesis
Metabolic pathways  
Sphingolipid signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog 33462484, 39406924
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MACULAR TELANGIECTASIA TYPE 2 — GWAS catalog 33654266
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (18)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 19905902
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37885013 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 37298446 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease GWASCAT_DG 29545352
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30272337
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37728516, 37758931 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis Lynch syndrome Pubtator 37728516 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 37298446 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 27358008
★★★★★
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 27358008
★★★★★
★☆☆☆☆
Found in Text Mining only