HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CLUL1
clusterin like 1
Chromosome 18 · 18p11.32
NCBI Gene: 27098Ensembl: ENSG00000079101.17HGNC: HGNC:2096UniProt: B7Z5R4
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
misfolded protein bindingGO:0005615nucleusextracellular regionmacular degenerationdegeneration of macula and posterior polemultinodular goiterglomerulonephritis
✦AI Summary

CLUL1 (clusterin-like protein 1) is a retina-specific gene located on chromosome 18 that encodes a 338-amino acid protein with structural similarity to the molecular chaperone clusterin 1. The protein is predominantly expressed in cone photoreceptor cells 2, with expression showing developmental regulation peaking during photoreceptor differentiation 1. CLUL1 shares 24% identity and 48% similarity with clusterin, suggesting a role in protein homeostasis, though it exhibits distinct tissue expression patterns and retinal development profiles compared to clusterin 2. Clinically, CLUL1 has been identified as a candidate gene for retinal diseases affecting cone photoreceptors. Genome-wide association studies identified CLUL1 as a novel locus associated with age-related macular degeneration (AMD), the leading cause of blindness in the elderly 3. However, mutation screening of 376 AMD patients found only non-pathogenic sequence variations, with one intronic variant potentially reducing AMD risk 4. CLUL1 was also screened as a positional candidate gene for autosomal dominant high-grade myopia (MYP2) on chromosome 18.31, but no disease-segregating mutations were identified 56. Recent metabolic biomarker studies identified altered CLUL1 plasma expression in women with gestational diabetes mellitus and macrosomia, suggesting broader metabolic relevance 7.

Sources cited
1
CLUL1 encodes a 338-amino acid retinal protein with developmental regulation and homology to clusterin
PMID: 10675623
2
CLUL1 is cone photoreceptor-specific with distinct expression profiles compared to clusterin
PMID: 14507903
3
CLUL1 identified as novel locus associated with age-related macular degeneration in GWAS meta-analysis
PMID: 32277175
4
Mutation screening of CLUL1 in 376 AMD patients found non-pathogenic variants, one potentially reducing AMD risk
PMID: 17148042
5
CLUL1 screened as positional candidate gene for MYP2-linked high myopia with no disease-segregating mutations
PMID: 15747770
6
CLUL1 screened within MYP2 locus on chromosome 18p11.31 without identifying disease-associated alterations
PMID: 15723005
7
Altered CLUL1 plasma expression identified in gestational diabetes mellitus with macrosomia
PMID: 36788507
Disease Associationsⓘ20
macular degenerationOpen Targets
0.38Weak
degeneration of macula and posterior poleOpen Targets
0.36Weak
multinodular goiterOpen Targets
0.32Weak
glomerulonephritisOpen Targets
0.31Weak
nontoxic goiterOpen Targets
0.29Weak
injuryOpen Targets
0.26Weak
nephritisOpen Targets
0.21Weak
NephropathyOpen Targets
0.21Weak
AscitesOpen Targets
0.15Weak
Testicular Germ Cell TumorOpen Targets
0.15Weak
obesityOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
hydronephrosisOpen Targets
0.03Suggestive
musculoskeletal system diseaseOpen Targets
0.03Suggestive
gestational diabetesOpen Targets
0.02Suggestive
age-related macular degenerationOpen Targets
0.01Suggestive
retinoblastomaOpen Targets
0.01Suggestive
endocrine system diseaseOpen Targets
0.01Suggestive
small cell carcinomaOpen Targets
0.01Suggestive
retinopathyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15846
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.63–1.06]
RankingsWhere CLUL1 stands among ~20K protein-coding genes
  • #16,714of 20,598
    Most Researched11
  • #10,742of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedCLUL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Maternal circulating metabolic biomarkers and their prediction performance for gestational diabetes mellitus related macrosomia.
PMID: 36788507
BMC Pregnancy Childbirth · 2023
1.00
2
Comparative analysis and expression of CLUL1, a cone photoreceptor-specific gene.
PMID: 14507903
Invest Ophthalmol Vis Sci · 2003
0.90
3
Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration.
PMID: 32277175
J Hum Genet · 2020
0.80
4
Molecular cloning, characterization and expression of a novel retinal clusterin-like protein cDNA.
PMID: 10675623
Gene · 2000
0.70
5
CRISPR/Cas9-Mediated Knockout of
PMID: 37239365
Genes (Basel) · 2023
0.60