CERKL: Ceramide Kinase Like
A gene associated with retinal dystrophy and oxidative stress response
Gene Information Card
| Symbol | CERKL |
|---|---|
| Full Name | ceramide kinase like |
| Gene Type | protein coding |
| Chromosomal Location | 2q31.3 |
| NCBI Gene ID | 375298 ncbi.nlm.nih.gov/gene/375298 |
| Ensembl ID | ENSG00000188452 |
| UniProt ID | Q49MI3 |
| OMIM ID | 608381 |
| HGNC ID | 21699 |
| Aliases | RP26, SPG52, C2orf29 |
Description
The CERKL gene encodes ceramide kinase like, a protein involved in ceramide metabolism and oxidative stress response. Mutations in CERKL are associated with autosomal recessive retinitis pigmentosa (RP26) and cone-rod dystrophy. The protein localizes to mitochondria and is implicated in sphingolipid signaling and photoreceptor survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 26 (RP26) | Loss-of-function mutations impair ceramide metabolism and increase oxidative stress, leading to photoreceptor degeneration | OMIM #608381; ClinVar |
| Cone-rod dystrophy | Mutations disrupt retinal cell survival pathways, causing progressive vision loss | ClinVar; PubMed |
| Spastic paraplegia 52 (SPG52) | Rare biallelic variants associated with neurodegeneration and motor dysfunction | OMIM #614067; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 6.1 | Low |
| Kidney | 4.2 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 10.1 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 7.4 | Low expression |
| HeLa (cervical carcinoma) | 3.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.847C>T (p.Arg283*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.238+1G>A | Splice donor | <0.01% | Splicing defect; loss of function |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Impaired kinase activity; reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Most CERKL mutations are loss-of-function, leading to reduced ceramide kinase activity and increased oxidative stress in retinal cells.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ceramide kinase activity (GO:0001727) | • mitochondrion (GO:0005739) |
| • response to oxidative stress (GO:0006979) | • visual perception (GO:0007601) |
| • ceramide metabolic process (GO:0006672) |
Pathways
• Sphingolipid signaling pathway (Reactome: R-HSA-428157)
• Ceramide de novo biosynthesis (Reactome: R-HSA-1660661)
Protein Summary
CERKL encodes a 558-amino acid protein with ceramide kinase-like activity. It localizes to mitochondria and is highly expressed in the retina. The protein phosphorylates ceramide to ceramide-1-phosphate, regulating sphingolipid signaling and protecting cells from oxidative stress. Loss-of-function mutations cause retinal degeneration and are linked to retinitis pigmentosa and cone-rod dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERKL Knockout HEK293 Cell Line | EDJ-KQ12875 | Human | 375298 | Details Get a Quote |
| CERKL Knockout HeLa Cell Line | EDJ-KQ59917 | Human | 375298 | Details Get a Quote |
| CERKL Knockout A-549 Cell Line | EDJ-KQ68379 | Human | 375298 | Details Get a Quote |
| CERKL Knockout HCT 116 Cell Line | EDJ-KQ76758 | Human | 375298 | Details Get a Quote |
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