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Aliases for CERKL Gene

Aliases for CERKL Gene

  • Ceramide Kinase Like 2 3 5
  • Ceramide Kinase-Like 2 3
  • Retinitis Pigmentosa 26 (Autosomal Recessive) 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 SPHK2.

UniProtKB/Swiss-Prot for CERKL Gene

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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CERKL on UCSC Golden Path with GeneCards custom track

Genomic Location for CERKL Gene

Chromosome:
2
Start:
181,536,672 bp from pter
End:
181,680,665 bp from pter
Size:
143,994 bases
Orientation:
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:
    Q49MI3-CERKL_HUMAN
    Recommended name:
    Ceramide kinase-like protein
    Protein Accession:
    Q49MI3
    Secondary Accessions:
    • B2RPL2
    • B4DEY1
    • Q49MH9
    • Q49MI0
    • Q49MI1
    • Q49MI2
    • Q5DVJ2
    • Q5DVJ4
    • Q5DVJ5
    • Q6UZF6
    • Q6ZP59

    Protein attributes for CERKL Gene

    Size:
    558 amino acids
    Molecular mass:
    62622 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

Proteomics data for CERKL Gene at MOPED

Post-translational modifications for CERKL Gene

Antibody Products

No data available for DME Specific Peptides for CERKL Gene

Domains & Families for CERKL Gene

Protein Domains for CERKL Gene

Graphical View of Domain Structure for InterPro Entry

Q49MI3

UniProtKB/Swiss-Prot:

CERKL_HUMAN :
  • Contains 1 DAGKc domain.
Domain:
  • Contains 1 DAGKc domain.
genes like me logo Genes that share domains with CERKL: view

No data available for Gene Families 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.
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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , 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

COMPARTMENTS
Jensen Localization Image for CERKL Gene COMPARTMENTS Subcellular localization image for CERKL gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
cytosol 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CERKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19158957
genes like me logo Genes that share ontologies with CERKL: view

Pathways & Interactions for CERKL Gene

SuperPathways for CERKL Gene

No Data Available

Interacting Proteins for CERKL Gene

Gene Ontology (GO) - Biological Process for CERKL Gene

None

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:

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: - - - -
SP8:
SP9: - -

Relevant External Links for CERKL Gene

GeneLoc Exon Structure for
CERKL
ECgene alternative splicing isoforms for
CERKL

Expression for CERKL Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CERKL Gene Hs.732358

mRNA Expression by UniProt/SwissProt for CERKL Gene

Q49MI3-CERKL_HUMAN
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.
genes like me logo Genes that share expression patterns with CERKL: view

Protein tissue co-expression partners for CERKL Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CERKL 35
  • 89.16 (n)
  • 86.2 (a)
CERKL 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CERKL 35
  • 85.74 (n)
  • 83.65 (a)
CERKL 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cerkl 35
  • 79.09 (n)
  • 75.74 (a)
Cerkl 16
Cerkl 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CERKL 35
  • 99.44 (n)
  • 99.44 (a)
CERKL 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CERKL 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CERKL 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CERKL 35
  • 71.46 (n)
  • 66.8 (a)
CERKL 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cerkl 35
  • 66.74 (n)
  • 63.62 (a)
zebrafish
(Danio rerio)
Actinopterygii cerkl 35
  • 61.2 (n)
  • 60.25 (a)
cerkl 36
  • 51 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB4 36
  • 12 (a)
ManyToMany
LCB5 36
  • 13 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os08g0152700 35
  • 44.74 (n)
  • 31.54 (a)
Species with no ortholog for CERKL:
  • 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

ENSEMBL:
Gene Tree for CERKL (if available)
TreeFam:
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
rs10185262 - 181,565,492(+) GCGAA(A/C)AATGG intron-variant, reference, missense
rs35955809 - 181,539,167(-) GGATG(A/G)AACTG nc-transcript-variant, reference, missense
VAR_065182 Retinitis pigmentosa 26 (RP26)
rs718449 -- 181,540,836(-) ACTTG(C/T)ACCAT intron-variant
rs732483 -- 181,646,613(+) GCAGA(C/T)CAGAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834477 CNV Gain 17160897
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

HapMap Linkage Disequilibrium report
CERKL
Human Gene Mutation Database (HGMD)
CERKL

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

Disorders for CERKL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 26
  • rp 26
cerkl-related retinitis pigmentosa
  • retinitis pigmentosa 26
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis
bacillary angiomatosis
  • angiomatosis, bacillary
- elite association - COSMIC cancer census association via MalaCards
Search CERKL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CERKL_HUMAN
  • 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)
CERKL
Human Genome Epidemiology (HuGE) Navigator
CERKL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CERKL
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. … Gonzalez-Duarte R. (Am. J. Hum. Genet. 2004) 2 3 4 23 67
  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. (Mol. Vis. 2009) 3 23
  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. (Biochim. Biophys. Acta 2009) 3 23
  4. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. (PMID: 18515597) Avila-Fernandez A. … Ayuso C. (Invest. Ophthalmol. Vis. Sci. 2008) 3 23
  5. A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. (PMID: 18978954) Ali M. … Inglehearn C.F. (Mol. Vis. 2008) 3 23

Products for CERKL Gene

Sources for CERKL Gene

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