This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protec... See more...

Aliases for CERS3 Gene

Aliases for CERS3 Gene

  • Ceramide Synthase 3 2 3 4 5
  • Sphingosine N-Acyltransferase CERS3 3 4
  • LAG1 Longevity Assurance Homolog 3 3 4
  • LAG1 Homolog, Ceramide Synthase 3 2 3
  • Dihydroceramide Synthase 3 3 4
  • LASS3 3 4
  • LAG1 Longevity Assurance Homolog 3 (S. Cerevisiae) 2
  • EC 2.3.1.24 4
  • EC 2.3.1.- 4
  • MGC27091 2
  • ARCI9 3
  • CERS3 5
  • CerS3 4

External Ids for CERS3 Gene

Previous HGNC Symbols for CERS3 Gene

  • LASS3

Previous GeneCards Identifiers for CERS3 Gene

  • GC15M100941
  • GC15M100427
  • GC15M100932
  • GC15M101191
  • GC15M100768
  • GC15M102803
  • GC15M103923
  • GC15M105052

Summaries for CERS3 Gene

Entrez Gene Summary for CERS3 Gene

  • This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

GeneCards Summary for CERS3 Gene

CERS3 (Ceramide Synthase 3) is a Protein Coding gene. Diseases associated with CERS3 include Ichthyosis, Congenital, Autosomal Recessive 9 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS2.

UniProtKB/Swiss-Prot Summary for CERS3 Gene

  • Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) and ultra long chain (more than C26:0) as acyl donor (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation (PubMed:23754960).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CERS3 Gene

Genomics for CERS3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CERS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J100542 Promoter/Enhancer 0.5 EPDnew Ensembl 250.7 +1.3 1294 1.4 CERS3 lnc-CERS3-1 lnc-LINS1-5 ENSG00000270127 lnc-LINS1-6 ADAMTS17
GH15J100528 Promoter 0.4 EPDnew 250.4 +16.1 16058 0.1 CTCF CERS3 lnc-CERS3-1 lnc-LINS1-5 lnc-LINS1-6 ADAMTS17
GH15J100544 Promoter 0.3 EPDnew 250.7 +0.5 478 0.1 CERS3 lnc-CERS3-1 lnc-LINS1-5 ADAMTS17
GH15J100516 Enhancer 0.7 ENCODE 16.3 +27.5 27545 1.5 ZNF10 ATF3 ZIC2 YY1 ZNF217 FOXA2 RXRA ZBTB33 SIN3A JUND CERS3 lnc-CERS3-1 lnc-LINS1-5 lnc-LINS1-6 ADAMTS17
GH15J100569 Enhancer 0.8 Ensembl dbSUPER 13.1 -26.9 -26906 2.6 ATF2 CTCF RFX5 SMC3 EBF1 RAD51 RAD21 NFYC ARID3A HLF lnc-CERS3-2 ENSG00000270127 LINS1 CERS3 ASB7 NONHSAG018100.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CERS3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CERS3

Genomic Locations for CERS3 Gene

Latest Assembly
chr15:100,400,395-100,544,995
(GRCh38/hg38)
Size:
144,601 bases
Orientation:
Minus strand

Previous Assembly
chr15:100,940,600-101,084,888
(GRCh37/hg19 by Entrez Gene)
Size:
144,289 bases
Orientation:
Minus strand

chr15:100,940,600-101,085,200
(GRCh37/hg19 by Ensembl)
Size:
144,601 bases
Orientation:
Minus strand

Genomic View for CERS3 Gene

Genes around CERS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CERS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CERS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CERS3 Gene

Proteins for CERS3 Gene

  • Protein details for CERS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IU89-CERS3_HUMAN
    Recommended name:
    Ceramide synthase 3
    Protein Accession:
    Q8IU89
    Secondary Accessions:
    • Q8NE64
    • Q8NEN6

    Protein attributes for CERS3 Gene

    Size:
    383 amino acids
    Molecular mass:
    46316 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CERS3 Gene

Post-translational modifications for CERS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CERS3 Gene

Domains & Families for CERS3 Gene

Gene Families for CERS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CERS3 Gene

InterPro:
Blocks:
  • Longevity-assurance protein (LAG1)
  • TRAM, LAG1 and CLN8 homology

Suggested Antigen Peptide Sequences for CERS3 Gene

GenScript: Design optimal peptide antigens:
  • LAG1 longevity assurance homolog 3 (LASS3_HUMAN)
genes like me logo Genes that share domains with CERS3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CERS3 Gene

Function for CERS3 Gene

Molecular function for CERS3 Gene

UniProtKB/Swiss-Prot Function:
Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) and ultra long chain (more than C26:0) as acyl donor (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation (PubMed:23754960).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=sphinganine + tetracosanoyl-CoA = CoA + H(+) + N-tetracosanoylsphinganine; Xref=Rhea:RHEA:33591, ChEBI:CHEBI:15378, ChEBI:CHEBI:52961, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65052; Evidence={ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:26887952};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexacosanoyl-CoA + sphinganine = CoA + H(+) + N-hexacosanoylsphinganine; Xref=Rhea:RHEA:33351, ChEBI:CHEBI:15378, ChEBI:CHEBI:52962, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:64868; Evidence={ECO:0000269|PubMed:22038835};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=octacosanoyl-CoA + sphinganine = CoA + H(+) + N-(octacosanoyl)-sphinganine; Xref=Rhea:RHEA:36675, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:72019, ChEBI:CHEBI:74141; Evidence={ECO:0000269|PubMed:22038835};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=docosanoyl-CoA + sphinganine = CoA + H(+) + N-docosanoylsphinganine; Xref=Rhea:RHEA:36535, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65059, ChEBI:CHEBI:67021; Evidence={ECO:0000250|UniProtKB:Q1A3B0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-hydroxyoctadecanoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxyoctadecanoyl)-sphinganine; Xref=Rhea:RHEA:36615, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:67034, ChEBI:CHEBI:74116; Evidence={ECO:0000250|UniProtKB:Q1A3B0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-hydroxytetracosanoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxytetracosanoyl)-sphinganine; Xref=Rhea:RHEA:36627, ChEBI:CHEBI:15378, ChEBI:CHEBI:52371, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74118; Evidence={ECO:0000250|UniProtKB:Q1A3B0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-hydroxydocosanoyl-CoA + sphinganine = CoA + H(+) + N-(2-hydroxydocosanoyl)-sphinganine; Xref=Rhea:RHEA:36619, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:67023, ChEBI:CHEBI:74117; Evidence={ECO:0000250|UniProtKB:Q1A3B0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=octadecanoyl-CoA + sphinganine = CoA + H(+) + N-(octadecanoyl)-sphinganine; Xref=Rhea:RHEA:36547, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57817, ChEBI:CHEBI:67033; Evidence={ECO:0000250|UniProtKB:Q1A3B0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a fatty acyl-CoA + sphing-4-enine = an N-acylsphing-4-enine + CoA + H(+); Xref=Rhea:RHEA:23768, ChEBI:CHEBI:15378, ChEBI:CHEBI:52639, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:77636; EC=2.3.1.24; Evidence={ECO:0000250|UniProtKB:Q1A3B0};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.7 uM for sphinganine {ECO:0000269|PubMed:17977534};

Enzyme Numbers (IUBMB) for CERS3 Gene

Phenotypes From GWAS Catalog for CERS3 Gene

Gene Ontology (GO) - Molecular Function for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 32296183
GO:0016410 N-acyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0050291 sphingosine N-acyltransferase activity IEA,IDA 17977534
genes like me logo Genes that share ontologies with CERS3: view
genes like me logo Genes that share phenotypes with CERS3: view

Human Phenotype Ontology for CERS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CERS3 Gene

MGI Knock Outs for CERS3:

miRNA for CERS3 Gene

miRTarBase miRNAs that target CERS3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS3

No data available for Transcription Factor Targets and HOMER Transcription for CERS3 Gene

Localization for CERS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERS3 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CERS3 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IBA,ISS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CERS3: view

Pathways & Interactions for CERS3 Gene

genes like me logo Genes that share pathways with CERS3: view

Pathways by source for CERS3 Gene

UniProtKB/Swiss-Prot Q8IU89-CERS3_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for CERS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0008544 epidermis development ISS --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0030216 keratinocyte differentiation IMP 23754960
genes like me logo Genes that share ontologies with CERS3: view

No data available for SIGNOR curated interactions for CERS3 Gene

Drugs & Compounds for CERS3 Gene

(3) Drugs for CERS3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
Coenzyme A Investigational Nutra 0
sphinganine Pharma 0
genes like me logo Genes that share compounds with CERS3: view

Transcripts for CERS3 Gene

mRNA/cDNA for CERS3 Gene

5 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CERS3

Alternative Splicing Database (ASD) splice patterns (SP) for CERS3 Gene

No ASD Table

Relevant External Links for CERS3 Gene

GeneLoc Exon Structure for
CERS3

Expression for CERS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CERS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CERS3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x13.2), Skin - Not Sun Exposed (Suprapubic) (x12.3), Esophagus - Mucosa (x11.9), and Vagina (x5.4).

Protein differential expression in normal tissues from HIPED for CERS3 Gene

This gene is overexpressed in Cervix (64.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CERS3 Gene



Protein tissue co-expression partners for CERS3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CERS3

SOURCE GeneReport for Unigene cluster for CERS3 Gene:

Hs.662371

mRNA Expression by UniProt/SwissProt for CERS3 Gene:

Q8IU89-CERS3_HUMAN
Tissue specificity: Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level).

Evidence on tissue expression from TISSUES for CERS3 Gene

  • Skin(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CERS3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
Pelvis:
  • penis
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CERS3: view

Primer products for research

Orthologs for CERS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CERS3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LASS3 29
  • 99.65 (n)
CERS3 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CERS3 29 30
  • 89.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CERS3 29
  • 87.38 (n)
LASS3 30
  • 82 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cers3 29 16 30
  • 83.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cers3 29
  • 82.29 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CERS3 30
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CERS3 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CERS3 29 30
  • 66.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CERS3 30
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cers3 29
  • 60.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01067609.1 30
  • 52 (a)
OneToMany
cers3b 30
  • 51 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta schlank 30
  • 35 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hyl-2 30
  • 28 (a)
ManyToMany
hyl-1 30
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
ManyToMany
-- 30
  • 39 (a)
ManyToMany
-- 30
  • 35 (a)
ManyToMany
-- 30
  • 34 (a)
ManyToMany
Species where no ortholog for CERS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CERS3 Gene

ENSEMBL:
Gene Tree for CERS3 (if available)
TreeFam:
Gene Tree for CERS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CERS3: view image
Alliance of Genome Resources:
Additional Orthologs for CERS3

Paralogs for CERS3 Gene

Paralogs for CERS3 Gene

(5) SIMAP similar genes for CERS3 Gene using alignment to 3 proteins:

  • CERS3_HUMAN
  • H0YMG6_HUMAN
  • H0YN05_HUMAN
genes like me logo Genes that share paralogs with CERS3: view

Variants for CERS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CERS3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1032560 Pathogenic: Autosomal recessive congenital ichthyosis 9 100,402,859(-) G/A
NM_001378789.1(CERS3):c.1006C>T (p.Gln336Ter)
NONSENSE
916164 Uncertain Significance: not provided 100,402,838(-) C/T
NM_001378789.1(CERS3):c.1027G>A (p.Glu343Lys)
MISSENSE
rs1064795328 Uncertain Significance: not provided 100,473,028(-) G/A
NM_001290343.2(CERS3):c.634C>T (p.His212Tyr)
MISSENSE
rs115420351 Benign: not provided 100,402,747(-) C/T
NM_001290343.2(CERS3):c.1118G>A (p.Arg373Lys)
MISSENSE
rs115551880 Benign: not provided 100,473,025(-) G/A
NM_001290343.2(CERS3):c.637C>T (p.Leu213=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CERS3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CERS3 Gene

Variant ID Type Subtype PubMed ID
esv1058598 CNV deletion 17803354
esv1555633 CNV deletion 17803354
esv1759060 CNV deletion 17803354
esv1944504 CNV deletion 18987734
esv2145822 CNV deletion 18987734
esv2581646 CNV deletion 19546169
esv2674387 CNV deletion 23128226
esv2750135 CNV deletion 23290073
esv3210457 CNV deletion 24192839
esv3492 CNV loss 18987735
esv3552941 CNV deletion 23714750
esv3569898 CNV gain 25503493
esv3581861 CNV loss 25503493
esv3581862 CNV loss 25503493
esv3637473 CNV gain 21293372
esv3637474 CNV gain 21293372
esv3637478 CNV gain 21293372
esv3637479 CNV loss 21293372
esv3637480 CNV gain 21293372
esv3892745 CNV gain 25118596
esv6913 CNV loss 19470904
esv990393 CNV deletion 20482838
nsv1035183 CNV gain 25217958
nsv1036363 CNV loss 25217958
nsv1041172 CNV gain 25217958
nsv1045838 CNV gain 25217958
nsv1115984 CNV insertion 24896259
nsv1120104 OTHER inversion 24896259
nsv1153554 CNV insertion 26484159
nsv1690 CNV deletion 18451855
nsv457284 CNV gain 19166990
nsv457287 CNV gain 19166990
nsv471265 CNV gain 18288195
nsv478570 CNV novel sequence insertion 20440878
nsv512415 CNV loss 21212237
nsv523179 CNV loss 19592680
nsv523884 CNV loss 19592680
nsv570779 CNV gain 21841781
nsv570781 CNV gain 21841781
nsv833107 CNV gain 17160897
nsv94807 CNV deletion 16902084
nsv958002 CNV deletion 24416366

Variation tolerance for CERS3 Gene

Residual Variation Intolerance Score: 73.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CERS3 Gene

Human Gene Mutation Database (HGMD)
CERS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CERS3
Leiden Open Variation Database (LOVD)
CERS3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CERS3 Gene

Disorders for CERS3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CERS3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CERS3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CERS3_HUMAN
  • Ichthyosis, congenital, autosomal recessive 9 (ARCI9) [MIM:615023]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:23754960}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CERS3

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No data available for Genatlas for CERS3 Gene

Publications for CERS3 Gene

  1. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (PMID: 23754960) Radner FP … Fischer J (PLoS genetics 2013) 3 4 72
  2. Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region. (PMID: 26887952) Sassa T … Kihara A (The Journal of biological chemistry 2016) 3 4
  3. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (PMID: 23549421) Eckl KM … Hennies HC (The Journal of investigative dermatology 2013) 3 72
  4. Loss of ceramide synthase 3 causes lethal skin barrier disruption. (PMID: 22038835) Jennemann R … Sandhoff R (Human molecular genetics 2012) 3 4
  5. Kinetic characterization of mammalian ceramide synthases: determination of K(m) values towards sphinganine. (PMID: 17977534) Lahiri S … Futerman AH (FEBS letters 2007) 3 4

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Sources for CERS3 Gene