Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5949
Gene name Gene Name - the full gene name approved by the HGNC.
Retinol binding protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBP3
Synonyms (NCBI Gene) Gene synonyms aliases
D10S64, D10S65, D10S66, IRBP, RBPI, RP66
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP66
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport re
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34932849 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs143076262 C>A,G,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs146038948 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs146150511 G>A Pathogenic Coding sequence variant, missense variant
rs146175391 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1297372 hsa-miR-146b-3p CLIP-seq
MIRT1297373 hsa-miR-1913 CLIP-seq
MIRT1297374 hsa-miR-3120-5p CLIP-seq
MIRT1297375 hsa-miR-3173-5p CLIP-seq
MIRT1297376 hsa-miR-3194-3p CLIP-seq
Transcription factors
Transcription factor Regulation Reference
CRX Activation 12409453
CRX Repression 15277472
CRX Unknown 11934446
KLF15 Repression 15277472;15963234
NRL Repression 15277472
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0005501 Function Retinoid binding TAS
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IDA 23486466
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180290 9921 ENSG00000265203
Protein
UniProt ID P10745
Protein name Retinol-binding protein 3 (Interphotoreceptor retinoid-binding protein) (IRBP) (Interstitial retinol-binding protein)
Protein function IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11918 Peptidase_S41_N 21 127 Domain
PF03572 Peptidase_S41 129 307 Peptidase family S41 Family
PF11918 Peptidase_S41_N 309 436 Domain
PF03572 Peptidase_S41 438 617 Peptidase family S41 Family
PF11918 Peptidase_S41_N 619 740 Domain
PF03572 Peptidase_S41 742 918 Peptidase family S41 Family
PF11918 Peptidase_S41_N 920 1039 Domain
PF03572 Peptidase_S41 1041 1217 Peptidase family S41 Family
Sequence
MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHE
ILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRG
LRHEVLE
GNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGI
PYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAE
DIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSG
VLPCVGT
PAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFS
TVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEA
IRQALVDSVFQVSVLP
GNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRH
NPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLL
TSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFID
NHGEAWLGGGVVPDAIV
LAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQT
SALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAV
PSPEELTYLIEALFKTEVLP
GQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVI
DLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDL
YILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMS
ATTGKAWDLAGVEPDITV
PMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAK
MATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIP
SPEVFEELIKFSFHTNVLE
DNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIID
MRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMV
ILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGA
SDGSSWEGVGVTPHVVV
PAEEALARAKEMLQHNQLRVKRSPGLQDHL
Sequence length 1247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    The retinoid cycle in cones (daylight vision)
The canonical retinoid cycle in rods (twilight vision)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs869025224 20007828, 21850155
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa GenCC
Associations from Text Mining
Disease Name Relationship Type References
Autoimmune Diseases Associate 16030131
Carcinoma Hepatocellular Associate 33845647
Exfoliation Syndrome Associate 30842085
Familial medullary thyroid carcinoma Associate 2576939
Hypertensive Retinopathy Associate 37806543
Mucocutaneous Lymph Node Syndrome Associate 37550746
Multiple Endocrine Neoplasia Type 2a Associate 1968709, 1978561, 1979053, 2906045
Myopia Associate 37806543
Nerve Degeneration Associate 19074801
Osler rendu weber syndrome 2 Associate 23882694