GenTIGSA Gene Database on Rare Genetic Disorders

Retinol binding protein 3 (RBP3) Associated conditions:  1. Retinitis pigmentosa 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_002900.3 NP_002891.1 NC_000010.11 (47348362..47357880) Reference GRCh38.p14 Primary Assembly -

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 137 reference articles

Variant Information Retinol binding protein 3 (RBP3Mutation Visualization Dashboard: Pathogenic variant distribution chart

 

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Retinol binding protein 3 (RBP3)
ClinVar variants:Revealing mutagenic patterns

GO Term of Retinol binding protein 3 (RBP3)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensTASinvolved_inretinoid metabolic processProcess
2Homo sapiensTASenablesretinoid bindingFunction2542268 
3Homo sapiensIPIenablesprotein bindingFunction32296183 
4Homo sapiensTASlocated_inextracellular regionComponent
5Homo sapiensIDAlocated_inextracellular spaceComponent23486466 
6Homo sapiensIEAinvolved_inproteolysisProcess
7Homo sapiensTASinvolved_inlipid metabolic processProcess2542268 
8Homo sapiensTASinvolved_invisual perceptionProcess2542268 
9Homo sapiensIEAenablesserine-type peptidase activityFunction
10Homo sapiensIEAenablesretinal bindingFunction
11Homo sapiensIBAenablesretinol bindingFunction
12Homo sapiensIEAenablesretinol bindingFunction
13Homo sapiensIEAlocated_ininterphotoreceptor matrixComponent
14Homo sapiensIBAis_active_incone matrix sheathComponent
15Homo sapiensHDAlocated_inextracellular vesicleComponent24769233