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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 Retinitis Pigmentosa. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for CERKL Gene

Promoters and enhancers for CERKL 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
GH02J181655 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 662.4 +24.2 24179 1.9 ZNF133 KLF17 MZF1 SIN3A FEZF1 BMI1 ZNF2 ZEB1 ZNF335 ZNF121 CERKL NEUROD1 ENSG00000234595 GC02M181678 GC02P181566
GH02J181680 Promoter/Enhancer 1.1 EPDnew dbSUPER 650.7 +0.1 128 0.1 KLF1 SP3 L3MBTL2 SP2 SIN3A ZBTB8A ZNF335 ZFHX2 PATZ1 ZBTB26 CERKL NEUROD1 GC02M181678
GH02J181454 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.9 +218.9 218938 13.7 ZNF2 GLIS2 ZNF143 KLF7 RUNX3 YY2 REST ZNF518A ZNF592 GLIS1 ITGA4 CERKL GC02P181566
GH02J181586 Enhancer 0.9 ENCODE dbSUPER 10.9 +93.9 93876 0.2 PKNOX1 SMAD1 PAX8 BMI1 POLR2A ATF7 IKZF2 RXRA NR2F1 TRIM22 NEUROD1 CERKL ENSG00000234595 GC02P181566 GC02M181678
GH02J181437 Enhancer 0.5 dbSUPER 17.4 +238.9 238852 9.3 CTCF SCRT2 BACH1 MAFK CERKL ITGA4 ENSG00000226681
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CERKL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CERKL gene promoter:
  • FOXD3
  • IRF-1
  • p300
  • POU3F1
  • FOXO3
  • AREB6

Genomic Locations for CERKL Gene

Genomic Locations for CERKL Gene
chr2:181,536,672-181,680,665
(GRCh38/hg38)
Size:
143,994 bases
Orientation:
Minus strand
chr2:182,401,399-182,545,392
(GRCh37/hg19)
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

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

Protein Domains for CERKL Gene

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

Inhibitory RNA Products

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

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

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 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

Inhibitory RNA Products

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

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: - - - -
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 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 and MOPED for CERKL Gene



Protein tissue co-expression partners for CERKL Gene

NURSA nuclear receptor signaling pathways regulating expression of CERKL Gene:

CERKL

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.

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

Orthologs for CERKL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CERKL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CERKL 34 33
  • 99.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CERKL 34 33
  • 89.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CERKL 34 33
  • 85.74 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cerkl 16 34 33
  • 79.09 (n)
oppossum
(Monodelphis domestica)
Mammalia CERKL 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CERKL 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CERKL 34 33
  • 71.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cerkl 33
  • 66.74 (n)
zebrafish
(Danio rerio)
Actinopterygii cerkl 34 33
  • 61.2 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB5 34
  • 13 (a)
ManyToMany
LCB4 34
  • 12 (a)
ManyToMany
rice
(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

ENSEMBL:
Gene Tree for CERKL (if available)
TreeFam:
Gene Tree for CERKL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CERKL: view image

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 Variation AA Info Type
rs1006479628 uncertain-significance, Retinitis Pigmentosa, Recessive 181,537,315(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs10180793 benign, not specified, Retinitis Pigmentosa, Recessive 181,539,124(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1037623 benign, Retinitis Pigmentosa, Recessive 181,537,304(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1047307 likely-benign, Retinitis Pigmentosa, Recessive 181,537,025(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs10490690 uncertain-significance, Retinitis Pigmentosa, Recessive 181,537,617(-) A/G 3_prime_UTR_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information for CERKL Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 26
  • rp26
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus dystrophy
  • retinal dystrophy
retinitis
cone-rod dystrophy 2
  • cord2
- 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.

Additional Disease Information for CERKL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  2. 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 58
  3. 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 58
  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 58
  5. Characterization of a ceramide kinase-like protein. (PMID: 15708351) Bornancin F … Billich A (Biochimica et biophysica acta 2005) 3 4 22 58

Products for CERKL Gene

Sources for CERKL Gene

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