RBP4 (retinol binding protein 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5950
Gene name Retinol binding protein 4
Gene symbol RBP4
Synonyms (NCBI Gene)
MCOPCB10RDCCAS
Chromosome 10
Chromosome location 10q23.33
Summary This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin whi
SNPs SNP information provided by dbSNP.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs111785373 C>A,G,T Likely-pathogenic Splice donor variant
rs112811136 C>A,G,T Pathogenic Splice donor variant
rs121918584 A>T Pathogenic Missense variant, coding sequence variant
rs121918585 C>T Pathogenic Missense variant, coding sequence variant
rs794726861 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT1297386 hsa-miR-1292 CLIP-seq
MIRT1297387 hsa-miR-3115 CLIP-seq
MIRT1297388 hsa-miR-3126-5p CLIP-seq
MIRT1297389 hsa-miR-4419a CLIP-seq
MIRT1297390 hsa-miR-4426 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (74)
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IEA
GO:0001654 Process Eye development IEA
GO:0001654 Process Eye development IMP 10232633
GO:0001654 Process Eye development ISS
GO:0002639 Process Positive regulation of immunoglobulin production IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
180250 9922 ENSG00000138207
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02753
Protein name Retinol-binding protein 4 (Plasma retinol-binding protein) (PRBP) (RBP) [Cleaved into: Plasma retinol-binding protein(1-182); Plasma retinol-binding protein(1-181); Plasma retinol-binding protein(1-179); Plasma retinol-binding protein(1-176)]
Protein function Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol
PDB 1BRP , 1BRQ , 1JYD , 1JYJ , 1QAB , 1RBP , 1RLB , 2WQ9 , 2WQA , 2WR6 , 3BSZ , 3FMZ , 4O9S , 4PSQ , 5NTY , 5NU2 , 5NU6 , 5NU7 , 5NU8 , 5NU9 , 5NUA , 5NUB , 6QBA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00061 Lipocalin 39 → 188 Lipocalin / cytosolic fatty-acid binding protein family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in blood plasma and in urine (at protein level). {ECO:0000269|PubMed:2444024, ECO:0000269|PubMed:5541771}.
Sequence
Sequence length 201
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
Retinoid metabolism disease events
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (10)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the eye Likely pathogenic rs111785373 RCV000504682
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anophthalmia Likely pathogenic rs2494068964 RCV003323305
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment dysgenesis Likely pathogenic rs2494059270 RCV003323308
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral microphthalmos Pathogenic; Likely pathogenic rs794726862, rs2494059342 RCV003323299
RCV003323306
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (26)
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
ANOPHTHALMOS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (261)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 28279688
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 28499807
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 31784980
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 26286643
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 9111040
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34531462, 37769462 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 17001693
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloid Neuropathies Familial Amyloid neuropathy Pubtator 26286643 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloid Neuropathies, Familial AMYLOID CARDIOMYOPATHY BEFREE 26286643
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28196196, 30562901
★★★★★
★☆☆☆☆
Found in Text Mining only