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Aliases for CERKL Gene

Aliases for CERKL Gene

  • Ceramide Kinase Like 2 3 5
  • Retinitis Pigmentosa 26 (Autosomal Recessive) 2
  • Ceramide Kinase-Like Protein 3
  • Ceramide Kinase-Like 2
  • RP26 3

External Ids for CERKL Gene

Previous HGNC Symbols for CERKL Gene

  • RP26

Previous GeneCards Identifiers for CERKL Gene

  • GC02M182229
  • GC02M182109
  • GC02M182401
  • GC02M174258

Summaries for CERKL Gene

Entrez Gene Summary for CERKL Gene

  • This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

GeneCards Summary for CERKL Gene

CERKL (Ceramide Kinase Like) is a Protein Coding gene. Diseases associated with CERKL include Retinitis Pigmentosa 26 and Cerkl-Related Retinitis Pigmentosa. GO annotations related to this gene include NAD+ kinase activity and diacylglycerol kinase activity. An important paralog of this gene is CERK.

UniProtKB/Swiss-Prot for CERKL Gene

  • Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.

Additional gene information for CERKL Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CERKL Gene

Genomics for CERKL Gene

Regulatory Elements for CERKL Gene

Enhancers for CERKL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H181454 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.9 +218.9 218939 13.7 ZNF2 GLIS2 ZNF143 KLF7 RUNX3 YY2 REST ZNF518A ZNF592 GLIS1 CERKL ITGA4 GC02P181566
GH02H181655 1.2 ENCODE dbSUPER 12.4 +24.2 24179 1.9 ZNF133 ZNF76 KLF17 SIN3A FEZF1 BMI1 ZNF2 ZEB1 ZNF121 GLIS2 NEUROD1 CERKL ENSG00000234595 GC02M181678 GC02P181566
GH02H181586 1 ENCODE dbSUPER 10.9 +93.9 93877 0.2 PKNOX1 NR2F1 TRIM22 BMI1 ELF1 DPF2 ZNF217 POLR2A ZSCAN16 TARDBP NEUROD1 CERKL ENSG00000234595 GC02P181566 GC02M181678
GH02H181104 0.9 Ensembl ENCODE 10.1 +575.8 575848 0.4 CTCF ZNF654 FOXA2 FOXA3 TRIM22 RAD21 ZNF366 FOXK2 TARDBP IKZF1 ITGA4 CERKL NEUROD1 ENSG00000234595 UBE2E3 ENSG00000238171 LINC01934
GH02H181715 0.7 ENCODE 12.5 -34.6 -34574 0.2 ELF3 CTCF ZNF654 TRIM22 MAX REST RAD21 YY1 KAT8 ZNF143 CERKL NEUROD1 ENSG00000234595 RNU6ATAC19P GC02P181739 SAP18P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CERKL on UCSC Golden Path with GeneCards custom track

Genomic Locations for CERKL Gene

Genomic Locations for CERKL Gene
143,994 bases
Minus strand

Genomic View for CERKL Gene

Genes around CERKL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CERKL Gene

Proteins for CERKL Gene

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

    Protein Symbol:
    Recommended name:
    Ceramide kinase-like protein
    Protein Accession:
    Secondary Accessions:
    • B2RPL2
    • B4DEY1
    • Q49MH9
    • Q49MI0
    • Q49MI1
    • Q49MI2
    • Q5DVJ2
    • Q5DVJ4
    • Q5DVJ5
    • Q6UZF6
    • Q6ZP59

    Protein attributes for CERKL Gene

    558 amino acids
    Molecular mass:
    62622 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC85266.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAG26980.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for CERKL Gene

neXtProt entry for CERKL Gene

Post-translational modifications for CERKL Gene

No data available for DME Specific Peptides for CERKL Gene

Domains & Families for CERKL Gene

Gene Families for CERKL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CERKL: view

No data available for UniProtKB/Swiss-Prot for CERKL Gene

Function for CERKL Gene

Molecular function for CERKL Gene

UniProtKB/Swiss-Prot Function:
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.

Phenotypes From GWAS Catalog for CERKL Gene

Gene Ontology (GO) - Molecular Function for CERKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003951 NAD+ kinase activity IEA --
GO:0016301 kinase activity IEA --
GO:0046625 sphingolipid binding IEA --
genes like me logo Genes that share ontologies with CERKL: view
genes like me logo Genes that share phenotypes with CERKL: view

Human Phenotype Ontology for CERKL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CERKL Gene

MGI Knock Outs for CERKL:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CERKL Gene

Localization for CERKL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CERKL Gene

Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.
Isoform 2: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.

Subcellular locations from

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 CERKL gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CERKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CERKL: view

Pathways & Interactions for CERKL Gene

SuperPathways for CERKL Gene

No Data Available

Gene Ontology (GO) - Biological Process for CERKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0030148 sphingolipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with CERKL: view

No data available for Pathways by source and SIGNOR curated interactions for CERKL Gene

Drugs & Compounds for CERKL Gene

(1) Drugs for CERKL Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iloperidone Approved Pharma Antagonist Dopamine (D2) and serotonin (5HT2) receptor antagonist 0
genes like me logo Genes that share compounds with CERKL: view

Transcripts for CERKL Gene

Unigene Clusters for CERKL Gene

Ceramide kinase-like:
Representative Sequences:

CRISPR Products

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - -
SP9: - -

Relevant External Links for CERKL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CERKL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x6.8) and Spleen (x6.4).

Protein differential expression in normal tissues from HIPED for CERKL Gene

This gene is overexpressed in Heart (69.0).

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

Protein tissue co-expression partners for CERKL Gene

NURSA nuclear receptor signaling pathways regulating expression of CERKL Gene:


SOURCE GeneReport for Unigene cluster for CERKL Gene:


mRNA Expression by UniProt/SwissProt for CERKL Gene:

Tissue specificity: Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.

Evidence on tissue expression from TISSUES for CERKL Gene

  • Kidney(4.9)
  • Nervous system(4.8)
  • Eye(4.6)
  • Intestine(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
  • penis
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CERKL: view

Primer Products

Orthologs for CERKL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CERKL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CERKL 33 34
  • 99.44 (n)
(Bos Taurus)
Mammalia CERKL 33 34
  • 89.16 (n)
(Canis familiaris)
Mammalia CERKL 33 34
  • 85.74 (n)
(Mus musculus)
Mammalia Cerkl 33 16 34
  • 79.09 (n)
(Monodelphis domestica)
Mammalia CERKL 34
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia CERKL 34
  • 68 (a)
(Gallus gallus)
Aves CERKL 33 34
  • 71.46 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
-- 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cerkl 33
  • 66.74 (n)
(Danio rerio)
Actinopterygii cerkl 33 34
  • 61.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB5 34
  • 13 (a)
LCB4 34
  • 12 (a)
(Oryza sativa)
Liliopsida Os08g0152700 33
  • 44.74 (n)
Species where no ortholog for CERKL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CERKL Gene

Gene Tree for CERKL (if available)
Gene Tree for CERKL (if available)

Paralogs for CERKL Gene

Paralogs for CERKL Gene

genes like me logo Genes that share paralogs with CERKL: view

Variants for CERKL Gene

Sequence variations from dbSNP and Humsavar for CERKL Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs569826109 Retinitis pigmentosa 26 (RP26) [MIM:608380] 181,604,002(+) ACAAC(A/G/T)CCGTT nc-transcript-variant, reference, missense
rs121909398 Pathogenic 181,558,617(-) CAGAC(C/G/T)GAATC intron-variant, nc-transcript-variant, reference, missense, stop-gained
rs398122962 Pathogenic 181,603,898(-) GATCT(-/T)ATTAA nc-transcript-variant, reference, frameshift-variant
rs398122963 Pathogenic 181,573,768(-) GAATA(A/T)AAACT intron-variant, nc-transcript-variant, reference, stop-gained
rs398122964 Pathogenic 181,558,606(-) CTGAC(-/T)CCTGT intron-variant, nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv834477 CNV gain 17160897
nsv473784 CNV novel sequence insertion 20440878
esv3593543 CNV loss 21293372
esv3560639 CNV deletion 23714750
esv2676063 CNV deletion 23128226

Variation tolerance for CERKL Gene

Residual Variation Intolerance Score: 93.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.66; 82.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CERKL Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for CERKL Gene

MalaCards: The human disease database

(5) MalaCards diseases for CERKL Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 26
  • rp26
cerkl-related retinitis pigmentosa
  • retinitis pigmentosa 26
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search CERKL in MalaCards View complete list of genes associated with diseases


  • Retinitis pigmentosa 26 (RP26) [MIM:608380]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:14681825, ECO:0000269 PubMed:18978954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CERKL

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CERKL: view

No data available for Genatlas for CERKL Gene

Publications for CERKL Gene

  1. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). (PMID: 14681825) Tuson M … Gonzàlez-Duarte R (American journal of human genetics 2004) 2 3 4 22 60
  2. Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress. (PMID: 19158957) Tuson M … Marfany G (Molecular vision 2009) 3 4 22 60
  3. Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain-containing N-terminal regions together with C-terminal domains. (PMID: 19501188) Rovina P … Bornancin F (Biochimica et biophysica acta 2009) 3 4 22 60
  4. A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. (PMID: 18978954) Ali M … Inglehearn CF (Molecular vision 2008) 3 4 22 60
  5. Characterization of a ceramide kinase-like protein. (PMID: 15708351) Bornancin F … Billich A (Biochimica et biophysica acta 2005) 3 4 22 60

Products for CERKL Gene

Sources for CERKL Gene

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