RBP4 (retinol binding protein 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5950
Gene name Gene Name - the full gene name approved by the HGNC.
Retinol binding protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBP4
Synonyms (NCBI Gene) Gene synonyms aliases
MCOPCB10, RDCCAS
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
180250 9922 ENSG00000138207
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microphthalmia With Coloboma microphthalmia, isolated, with coloboma 10 rs794726861, rs794726862 N/A
Progressive Retinal Dystrophy progressive retinal dystrophy due to retinol transport defect rs112811136 N/A
Microphthalmos bilateral microphthalmos, unilateral microphthalmos rs794726862, rs1329285216 N/A
Show/Hide Unknown Diseases (2)
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.
Disease merge term Disease name Evidence References Source
Isolated Microphthalmia-Anophthalmia-Coloboma isolated anophthalmia-microphthalmia syndrome N/A N/A GenCC
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (133)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 23189188
Acute Coronary Syndrome Associate 32449048
Acute Kidney Injury Associate 20224435
Adenoma Associate 31784980
Alzheimer Disease Associate 34531462, 37769462
Amyloid Neuropathies Familial Associate 26286643
Amyloidosis Associate 34814699
Amyotrophic Lateral Sclerosis Associate 37646115
Aortic Aneurysm Abdominal Stimulate 27934969
Azoospermia Associate 37116198