Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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

Show/Hide all(11)

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
rs148591757	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782215106	C>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs782469310	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs782604129	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs917821437	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1588865728	C>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments
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
MIRT1297377	hsa-miR-324-3p	CLIP-seq
MIRT1297378	hsa-miR-346	CLIP-seq
MIRT1297379	hsa-miR-4283	CLIP-seq
MIRT1297380	hsa-miR-4288	CLIP-seq
MIRT1297381	hsa-miR-4292	CLIP-seq
MIRT1297382	hsa-miR-4489	CLIP-seq
MIRT1297383	hsa-miR-632	CLIP-seq
MIRT1297384	hsa-miR-760	CLIP-seq
MIRT1297385	hsa-miR-874	CLIP-seq
MIRT2088387	hsa-miR-1292	CLIP-seq
MIRT2088388	hsa-miR-1343	CLIP-seq
MIRT2088389	hsa-miR-3121-5p	CLIP-seq
MIRT2088390	hsa-miR-4268	CLIP-seq
MIRT2088391	hsa-miR-4448	CLIP-seq
MIRT2088392	hsa-miR-4471	CLIP-seq
MIRT2088393	hsa-miR-4646-5p	CLIP-seq

Transcription factors

Show/Hide all(8)

Transcription factor	Regulation	Reference
CRX	Activation	12409453
CRX	Repression	15277472
CRX	Unknown	11934446
KLF15	Repression	15277472;15963234
NRL	Repression	15277472
OTX2	Activation	10354480;10372988
OTX2	Unknown	18628516
ZNF239	Repression	12409453

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0005501	Function	Retinoid binding	TAS	2542268
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	23486466
GO:0006508	Process	Proteolysis	IEA
GO:0006629	Process	Lipid metabolic process	TAS	2542268
GO:0007601	Process	Visual perception	TAS	2542268
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016918	Function	Retinal binding	IEA
GO:0019841	Function	Retinol binding	IBA
GO:0019841	Function	Retinol binding	IEA
GO:0033165	Component	Interphotoreceptor matrix	IEA
GO:0090658	Component	Cone matrix sheath	IBA
GO:1903561	Component	Extracellular vesicle	HDA	24769233

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
LRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGI
PYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAE
DIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSG
VLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFS
TVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEA
IRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRH
NPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLL
TSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFID
NHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQT
SALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAV
PSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVI
DLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDL
YILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMS
ATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAK
MATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIP
SPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIID
MRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMV
ILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGA
SDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL

Sequence length

1247

Interactions

View interactions

	Reactome
			The retinoid cycle in cones (daylight vision) The canonical retinoid cycle in rods (twilight vision)

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs781881541	N/A
Retinitis Pigmentosa	retinitis pigmentosa 66, retinitis pigmentosa	rs146150511, rs1555210929, rs1836974640, rs1836931186	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs1588865728	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital stationary night blindness	congenital stationary night blindness	N/A	N/A	ClinVar
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Parathyroid Neoplasms	Associate	1978560
Pheochromocytoma	Associate	1978560
Retinal Dystrophies	Associate	37806543
Retinitis	Associate	23882694
Retinitis Pigmentosa	Associate	19074801
Retinoblastoma	Associate	11134581, 11934446
Retinoschisis	Associate	34991515
Thyroid cancer medullary	Associate	1978560

RBP3 (retinol binding protein 3)