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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RTBDN
retbindin
Chromosome 19 · 19p13.13
NCBI Gene: 83546Ensembl: ENSG00000132026.15HGNC: HGNC:30310UniProt: K7ESG0
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
riboflavin transmembrane transporter activitysignaling receptor activityriboflavin bindingriboflavin transportneurodegenerative diseasemathematical abilitytype 2 diabetes mellitusFamilial exudative vitreoretinopathy
✦AI Summary

RTBDN (retbindin) is a retina-specific riboflavin-binding protein with a primary function in flavin homeostasis and transport. The protein is secreted by rod photoreceptors into the inter-photoreceptor matrix, where it localizes at the photoreceptor/retinal pigment epithelium interface 1. RTBDN binds riboflavin and its derivatives (FAD and FMN) 2, facilitating flavin delivery to photoreceptors and protecting them from flavin-sensitized light damage 2. Mechanistically, RTBDN maintains retinal flavin levels critical for energy production and enzymatic cofactor functions 3. Its absence blocks glycolytic flux and disrupts metabolic homeostasis; RTBDN-deficient retinas show reduced pyruvate kinase M2 activity, accumulation of glycolytic intermediates, and elevated toxic metabolites including acylcarnitines and ceramides 4. This metabolic reprogramming forces the retina to prioritize glucose for free-radical mitigation over ATP production, eventually causing metabolic collapse and neurodegeneration 4. Clinically, RTBDN ablation leads to retinal degeneration in mice associated with reduced flavin levels 3. This parallels human riboflavin transporter deficiency, which causes neurologic abnormalities 3. RTBDN represents a therapeutic target for flavin-related retinal diseases and metabolic disorders affecting photoreceptor function.

Sources cited
1
RTBDN binds flavins (riboflavin, FAD, FMN) and protects photoreceptors from flavin-sensitized light damage
PMID: 29721980
2
RTBDN is a retina-specific riboflavin-binding protein; its ablation reduces flavin levels and causes retinal degeneration
PMID: 39930240
3
RTBDN deficiency blocks glycolytic flux via PKM2 downregulation, elevates toxic metabolites, and causes retinal degeneration through metabolic collapse
PMID: 33526685
4
RTBDN is secreted by rod photoreceptors, localizes at photoreceptor/RPE interface, binds riboflavin, and functions as a metabolite carrier
PMID: 25542898
5
RTBDN is an abundant, novel retina-specific transcript with sequence similarity to riboflavin binding proteins located on chromosome 19
PMID: 12107411
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
mathematical abilityOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
Familial drusenOpen Targets
0.04Suggestive
isolated familial wooly hair disorderOpen Targets
0.04Suggestive
Woolly hairOpen Targets
0.04Suggestive
Trichodysplasia - xerodermaOpen Targets
0.04Suggestive
trichodysplasia-xeroderma syndromeOpen Targets
0.04Suggestive
hypotrichosis simplexOpen Targets
0.04Suggestive
wooly hair, autosomal recessive 3Open Targets
0.04Suggestive
hypotrichosis 4Open Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
retinal degenerationOpen Targets
0.03Suggestive
essential thrombocythemiaOpen Targets
0.03Suggestive
thrombocythemia 2Open Targets
0.03Suggestive
retinitis pigmentosaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC22A14Shared pathway100%SLC52A1Shared pathway50%SLC52A2Shared pathway50%SLC52A3Shared pathway33%ABCG2Shared pathway8%
Tissue Expression6 tissues
Brain
100%
Liver
2%
Ovary
2%
Bone Marrow
1%
Lung
1%
Heart
0%
Gene Interaction Network
Click a node to explore
RTBDNSLC22A14SLC52A1SLC52A2SLC52A3ABCG2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N210
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.13 [0.81–1.61]
RankingsWhere RTBDN stands among ~20K protein-coding genes
  • #15,372of 20,598
    Most Researched16
  • #15,712of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedRTBDN
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Retbindin Is Capable of Protecting Photoreceptors from Flavin-Sensitized Light-Mediated Cell Death In Vitro.
PMID: 29721980
Adv Exp Med Biol · 2018
1.00
2
Riboflavin, Retbindin, and Riboflavin Transporters in the Retina.
PMID: 39930240
Adv Exp Med Biol · 2025
0.83
3
Absence of retbindin blocks glycolytic flux, disrupts metabolic homeostasis, and leads to photoreceptor degeneration.
PMID: 33526685
Proc Natl Acad Sci U S A · 2021
0.67
4
Impact of Extracellular Matrix-Related Genes on the Tumor Microenvironment and Prognostic Indicators in Esophageal Cancer: A Comprehensive Analytical Study.
PMID: 39139739
Genet Res (Camb) · 2024
0.50
5
Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.
PMID: 12107411
Mol Vis · 2002
0.33