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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CERKL
CERK like autophagy regulator
Chromosome 2 Β· 2q31.3
NCBI Gene: 375298Ensembl: ENSG00000188452.15HGNC: HGNC:21699UniProt: Q49MI3
42PubMed Papers
21Diseases
0Drugs
202Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinglipid kinase activitysphingolipid metabolic processplasma membraneretinitis pigmentosaretinitis pigmentosa 26Retinal dystrophyneurodegenerative disease
✦AI Summary

CERKL (ceramide kinase-like) is a retinal protein that functions as a stress-response regulator despite lacking detectable ceramide kinase activity 1. CERKL localizes to multiple retinal compartments including mitochondria, the cytoplasm, and photoreceptor outer segments, with expression predominantly in cone photoreceptors and ganglion cells 2. The gene produces over 20 mRNA isoforms through multiple transcriptional start sites and alternative splicing, generating protein variants with distinct functional domains 3. Mechanistically, CERKL regulates retinal homeostasis through multiple pathways: it controls mitochondrial dynamics and autophagy 4, regulates photoreceptor outer segment phagocytosis by the retinal pigment epithelium via MERTK expression 5, and protects cells from oxidative stress-induced apoptosis 1. CERKL deficiency impairs glutathione metabolism and stress granule formation, creating a basal exacerbated stress state that compromises cellular responses to oxidative damage 1. CERKL mutations cause retinitis pigmentosa 26 and cone-rod dystrophy in humans, characterized by photoreceptor degeneration and progressive vision loss 5. In patient cohorts, CERKL variants were identified in 15.8% of Chinese families with retinitis pigmentosa exhibiting autosomal recessive inheritance 6. These findings establish CERKL as a critical resilience factor for maintaining retinal photoreceptor survival under physiological and stress conditions.

Sources cited
1
CERKL is a resilience gene against oxidative stress and its deficiency causes exacerbated oxidative stress response in retinas with altered glutathione metabolism and stress granule production
PMID: 37660443
2
CERKL regulates autophagy and mitochondrial dynamics in mammalian retinas; CERKL depletion causes mitochondrial fragmentation and dysfunction
PMID: 34048907
3
CERKL knockout causes rod-cone dystrophy; CERKL regulates photoreceptor outer segment phagocytosis by downregulating MERTK expression
PMID: 28398482
4
CERKL generates over 20 mRNA isoforms through multiple transcriptional start sites and alternative splicing in human and mouse retinas
PMID: 21508105
5
CERKL is highly expressed in cone photoreceptors and localizes to ganglion cells, amacrine cells, and photoreceptors with predominantly cytoplasmic localization
PMID: 21151604
6
CERKL variants were identified in 12 of 76 Chinese families (15.8%) with retinitis pigmentosa with autosomal recessive inheritance
PMID: 31960602
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.74Strong
retinitis pigmentosa 26Open Targets
0.71Strong
Retinal dystrophyOpen Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
Cone rod dystrophyOpen Targets
0.54Moderate
cone-rod dystrophyOpen Targets
0.53Moderate
autosomal recessive retinitis pigmentosaOpen Targets
0.50Moderate
maturity-onset diabetes of the young type 6Open Targets
0.46Moderate
CERKL-related retinopathyOpen Targets
0.45Moderate
cone dystrophyOpen Targets
0.43Moderate
Retinal pigment epithelial atrophyOpen Targets
0.43Moderate
type 2 diabetes mellitusOpen Targets
0.42Moderate
Posterior column ataxia - retinitis pigmentosaOpen Targets
0.41Moderate
eye diseaseOpen Targets
0.37Weak
Stargardt diseaseOpen Targets
0.35Weak
retinopathyOpen Targets
0.35Weak
isolated macular dystrophyOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.28Weak
multiple sclerosisOpen Targets
0.28Weak
Retinitis pigmentosa 26UniProt
Pathogenic Variants202
NM_201548.5(CERKL):c.182T>A (p.Val61Glu)Pathogenic
not provided|Retinitis pigmentosa 26|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2026β†’ Residue 61
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)Pathogenic
Retinitis pigmentosa 26|Retinitis pigmentosa|Retinal dystrophy|Cone dystrophy;Retinal pigment epithelial atrophy|Cone-rod dystrophy|not provided|See cases|CERKL-related disorder|Retinal disorder|CERKL-related retinopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 257
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter)Pathogenic
Retinitis pigmentosa 26|not provided|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2026β†’ Residue 200
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)Pathogenic
Retinal dystrophy|not provided|Retinitis pigmentosa 26|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2026β†’ Residue 106
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)Pathogenic
not provided|Retinal dystrophy|Retinitis pigmentosa|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2026β†’ Residue 33
NM_201548.5(CERKL):c.237_238+13delPathogenic
not provided|Retinitis pigmentosa 26|Cone-rod dystrophy|Retinal dystrophy
β˜…β˜…β˜†β˜†2026
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)Pathogenic
Retinitis pigmentosa 26|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 435
NM_201548.5(CERKL):c.967_968del (p.Met323fs)Pathogenic
Retinal dystrophy|not provided|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2026β†’ Residue 323
NM_201548.5(CERKL):c.652del (p.Glu218fs)Likely pathogenic
Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2026β†’ Residue 218
NM_201548.5(CERKL):c.2T>G (p.Met1Arg)Pathogenic
not provided|Retinitis pigmentosa|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2026β†’ Residue 1
NM_201548.5(CERKL):c.481+2T>GPathogenic
Cone dystrophy;Retinal pigment epithelial atrophy|Retinitis pigmentosa|Retinitis pigmentosa 26|not provided
β˜…β˜…β˜†β˜†2025
NM_201548.5(CERKL):c.677+1G>APathogenic
Retinal dystrophy|not provided|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2025
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)Pathogenic
not provided|Retinitis pigmentosa|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2025β†’ Residue 106
NM_201548.5(CERKL):c.1227C>A (p.Cys409Ter)Pathogenic
not provided|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2025β†’ Residue 409
NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter)Pathogenic
not provided|Retinitis pigmentosa 26|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 338
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter)Pathogenic
not provided|Retinal dystrophy|Retinitis pigmentosa 26|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2025β†’ Residue 488
NM_201548.5(CERKL):c.239-2A>GPathogenic
Retinitis pigmentosa 26|not provided
β˜…β˜…β˜†β˜†2025
NM_201548.5(CERKL):c.1073+3_1073+6delPathogenic
Retinitis pigmentosa|Retinitis pigmentosa 26|not provided|Autosomal recessive retinitis pigmentosa|Retinal dystrophy
β˜…β˜…β˜†β˜†2025
NM_201548.5(CERKL):c.396del (p.Lys132fs)Pathogenic
not provided|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2025β†’ Residue 132
NM_201548.5(CERKL):c.397_401del (p.Leu133fs)Pathogenic
not provided|Retinitis pigmentosa 26
β˜…β˜…β˜†β˜†2025β†’ Residue 133
View on ClinVar β†—
Related Genes
TEX2Shared pathway100%PCAREProtein interaction84%SNRNP200Protein interaction83%PRCDProtein interaction82%ABCA4Protein interaction79%GUCA1BProtein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
24%
Brain
10%
Liver
6%
Heart
4%
Ovary
2%
Gene Interaction Network
Click a node to explore
CERKLTEX2PCARESNRNP200PRCDABCA4GUCA1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q49MI3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.43LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.12 [0.88–1.43]
RankingsWhere CERKL stands among ~20K protein-coding genes
  • #9,850of 20,598
    Most Researched42
  • #335of 5,498
    Most Pathogenic Variants202 Β· top 10%
  • #14,710of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedCERKL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
PMID: 29555955
Sci Rep Β· 2018
0.90
3
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
PMID: 31960602
Mol Genet Genomic Med Β· 2020
0.80
4
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish.
PMID: 28398482
Hum Mol Genet Β· 2017
0.70
5
CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina.
PMID: 34048907
Neurobiol Dis Β· 2021
0.60