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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TLCD3B
TLC domain containing 3B
Chromosome 16 Β· 16p11.2
NCBI Gene: 83723Ensembl: ENSG00000149926.15HGNC: HGNC:25295UniProt: F1T0F5
17PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumsphingosine N-acyltransferase activityceramide biosynthetic processlipid homeostasiscone-rod dystrophy 22Rod-cone dystrophyCone rod dystrophycone-rod dystrophy
✦AI Summary

TLCD3B is a non-canonical ceramide synthase localized to the endoplasmic reticulum that catalyzes ceramide biosynthesis through sphingosine N-acyltransferase activity 1. The protein plays a critical role in maintaining proper ceramide homeostasis, particularly in photoreceptors, where it functions to preserve both retinal function and structure 2. Loss-of-function variants in TLCD3B cause cone-rod dystrophy 22, an inherited retinal dystrophy characterized by progressive photoreceptor degeneration 1. TLCD3B knockout mice exhibit significantly reduced cone photoreceptor light responses, outer nuclear layer thinning, and cone photoreceptor loss 1. Mechanistically, TLCD3B deficiency results in reduced levels of specific ceramide species (C16-, C18-, and C20-ceramides), and TLCD3B exhibits functional redundancy with canonical ceramide synthases in maintaining the overall ceramide profile rather than acting as a single entity 2. Gene therapy using subretinal AAV8-mediated TLCD3B delivery successfully rescues retinal degeneration in knockout mice, with photoreceptor-specific expression being sufficient for therapeutic benefit, confirming TLCD3B's essential role in photoreceptor survival 3. This represents the first identified pathogenic ceramide synthase variant associated with human retinal dystrophy, establishing a novel link between ceramide synthesis disruption and photoreceptor degeneration.

Sources cited
1
TLCD3B is a ceramide synthase with pathogenic variants causing cone-rod dystrophy; Tlcd3b knockout mice show reduced cone photoreceptor responses and photoreceptor loss
PMID: 33077892
2
TLCD3B is a non-canonical ceramide synthase; TLCD3B deficiency impairs retinal function and structure; TLCD3B shows functional redundancy with canonical ceramide synthases; different ceramide species have distinct impacts on retinal cells
PMID: 37466006
3
AAV8-mediated TLCD3B gene therapy rescues retinal degeneration; photoreceptor-specific TLCD3B expression is sufficient for therapeutic benefit; TLCD3B deficiency reduces C16-, C18-, and C20-ceramides in the retina
PMID: 35275174
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
cone-rod dystrophy 22Open Targets
0.45Moderate
Cone rod dystrophyOpen Targets
0.37Weak
Rod-cone dystrophyOpen Targets
0.37Weak
cone-rod dystrophyOpen Targets
0.37Weak
substance-related disorderOpen Targets
0.18Weak
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.04Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.04Suggestive
Stargardt diseaseOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
late-onset retinal degenerationOpen Targets
0.04Suggestive
birdshot chorioretinopathyOpen Targets
0.04Suggestive
retinitis pigmentosaOpen Targets
0.03Suggestive
retinitis pigmentosa 50Open Targets
0.03Suggestive
lymphoid neoplasmOpen Targets
0.03Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.03Suggestive
retinitis pigmentosa 70Open Targets
0.03Suggestive
Cone-rod dystrophy 22UniProt
Pathogenic Variants2
NM_031478.6(TLCD3B):c.166G>A (p.Gly56Ser)Pathogenic
Cone-rod dystrophy 22
β˜…β˜†β˜†β˜†2022β†’ Residue 56
NM_031478.6(TLCD3B):c.234del (p.Gln79fs)Pathogenic
Cone-rod dystrophy 22
β˜†β˜†β˜†β˜†2021β†’ Residue 79
View on ClinVar β†—
Related Genes
UBP1Protein interaction90%SGPP1Protein interaction90%SMPD1Protein interaction87%SPTLC2Protein interaction87%SPTLC1Protein interaction87%CERS1Protein interaction87%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
9%
Liver
0%
Ovary
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
TLCD3BUBP1SGPP1SMPD1SPTLC2SPTLC1CERS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q71RH2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.55Intermediate
Observed/Expected LoF0.38 [0.23–0.64]
RankingsWhere TLCD3B stands among ~20K protein-coding genes
  • #15,142of 20,598
    Most Researched17
  • #4,573of 5,498
    Most Pathogenic Variants2
  • #4,615of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedTLCD3B
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
PMID: 33077892
Genet Med Β· 2021
1.00
2
International Prognostic Index-Based Immune Prognostic Model for Diffuse Large B-Cell Lymphoma.
PMID: 34745101
Front Immunol Β· 2021
0.75
3
Ceramide compensation by ceramide synthases preserves retinal function and structure in a retinal dystrophy mouse model.
PMID: 37466006
Dis Model Mech Β· 2023
0.50
4
AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model.
PMID: 35275174
Invest Ophthalmol Vis Sci Β· 2022
0.25