Gene Gene information from NCBI Gene database.
Entrez ID 83546
Gene name Retbindin
Gene symbol RTBDN
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19p13.13
Summary This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding protein
miRNA miRNA information provided by mirtarbase database.
63
miRTarBase ID miRNA Experiments Reference
MIRT018579 hsa-miR-335-5p Microarray 18185580
MIRT485975 hsa-miR-6793-3p PAR-CLIP 23592263
MIRT485974 hsa-miR-361-3p PAR-CLIP 23592263
MIRT485973 hsa-miR-637 PAR-CLIP 23592263
MIRT485972 hsa-miR-4731-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0009897 Component External side of plasma membrane IBA
GO:0009897 Component External side of plasma membrane IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609553 30310 ENSG00000132026
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BSG5
Protein name Retbindin
Protein function Riboflavin-binding protein which might have a role in retinal flavin transport.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03024 Folate_rec 27 183 Folate receptor family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in peripheral retina (at protein level). {ECO:0000269|PubMed:25542898}.
Sequence
Sequence length 229
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations