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Aliases for RBP4 Gene

Aliases for RBP4 Gene

  • Retinol Binding Protein 4 2 3 5
  • Plasma Retinol-Binding Protein 3 4
  • PRBP 3 4
  • RBP 3 4
  • Retinol-Binding Protein 4, Interstitial 3
  • Retinol-Binding Protein 4, Plasma 2
  • Retinol Binding Protein 4, Plasma 3
  • Retinol-Binding Protein 4 3
  • MCOPCB10 3
  • RDCCAS 3

External Ids for RBP4 Gene

Previous GeneCards Identifiers for RBP4 Gene

  • GC10M094244
  • GC10M094585
  • GC10M095482
  • GC10M095016
  • GC10M095341
  • GC10M088979

Summaries for RBP4 Gene

Entrez Gene Summary for RBP4 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 which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for RBP4 Gene

RBP4 (Retinol Binding Protein 4) is a Protein Coding gene. Diseases associated with RBP4 include Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome and Microphthalmia, Isolated, With Coloboma 10. Among its related pathways are the visual cycle I (vertebrates) and Retinoid cycle disease events. GO annotations related to this gene include protein heterodimerization activity and retinol binding.

UniProtKB/Swiss-Prot for RBP4 Gene

  • Delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin, this prevents its loss by filtration through the kidney glomeruli.

Gene Wiki entry for RBP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBP4 Gene

Genomics for RBP4 Gene

Regulatory Elements for RBP4 Gene

Enhancers for RBP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G093541 1.1 Ensembl ENCODE 5.6 +59.2 59169 1.2 PKNOX1 NFIB KLF17 ZNF195 ZNF2 RAD21 ZNF121 GLIS2 ZNF366 ZNF143 RPL17P34 RBP4 GC10M093549 RNA5SP323 GC10M093511
GH10G093566 0.9 Ensembl 5.7 +34.9 34898 1.3 ZNF76 KLF17 GLI4 SCRT2 ZNF391 CEBPB ZEB2 ZNF398 KLF16 ZNF341 RBP4 FFAR4 GC10P093568
GH10G093591 0.7 ENCODE 7.1 +10.0 9966 1.2 PAF1 SOX13 NR2F1 HLF MAX NR2F2 YY1 SSRP1 JUND IKZF1 PDE6C FFAR4 RBP4 GC10P093599 GC10P093568
GH10G093572 0.5 Ensembl 5.9 +28.3 28344 1.2 GATA2 ETV1 EP300 FFAR4 RBP4 GC10P093568 GC10P093599
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBP4 Gene

Chromosome:
10
Start:
93,591,687 bp from pter
End:
93,601,744 bp from pter
Size:
10,058 bases
Orientation:
Minus strand

Genomic View for RBP4 Gene

Genes around RBP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBP4 Gene

Proteins for RBP4 Gene

  • Protein details for RBP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02753-RET4_HUMAN
    Recommended name:
    Retinol-binding protein 4
    Protein Accession:
    P02753
    Secondary Accessions:
    • D3DR38
    • O43478
    • O43479
    • Q5VY24
    • Q8WWA3
    • Q9P178

    Protein attributes for RBP4 Gene

    Size:
    201 amino acids
    Molecular mass:
    23010 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF69622.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBP4 Gene

neXtProt entry for RBP4 Gene

Post-translational modifications for RBP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBP4 Gene

Antibody Products

  • R&D Systems Antibodies for RBP4 (RBP4/Retinol-Binding Protein 4)

Assay Products

  • Cloud-Clone Corp Assay Kits for RBP4

No data available for DME Specific Peptides for RBP4 Gene

Domains & Families for RBP4 Gene

Gene Families for RBP4 Gene

Suggested Antigen Peptide Sequences for RBP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02753

UniProtKB/Swiss-Prot:

RET4_HUMAN :
  • Belongs to the calycin superfamily. Lipocalin family.
Family:
  • Belongs to the calycin superfamily. Lipocalin family.
genes like me logo Genes that share domains with RBP4: view

Function for RBP4 Gene

Molecular function for RBP4 Gene

GENATLAS Biochemistry:
retinol binding protein 4,serum (lipocalin family,Kernel group),monomer,binding to transthyretin
UniProtKB/Swiss-Prot Function:
Delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin, this prevents its loss by filtration through the kidney glomeruli.

Gene Ontology (GO) - Molecular Function for RBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005501 retinoid binding IEA --
GO:0005515 protein binding IPI 986177
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IDA 571335
genes like me logo Genes that share ontologies with RBP4: view
genes like me logo Genes that share phenotypes with RBP4: view

Human Phenotype Ontology for RBP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBP4 Gene

MGI Knock Outs for RBP4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for RBP4 Gene

Localization for RBP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBP4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBP4 gene
Compartment Confidence
extracellular 5
cytosol 5
peroxisome 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space ISS,IEA --
GO:0005829 cytosol TAS --
GO:0043234 protein complex IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with RBP4: view

Pathways & Interactions for RBP4 Gene

genes like me logo Genes that share pathways with RBP4: view

Gene Ontology (GO) - Biological Process for RBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001654 eye development ISS --
GO:0006094 gluconeogenesis ISS --
GO:0006810 transport IEA --
GO:0007507 heart development ISS --
genes like me logo Genes that share ontologies with RBP4: view

No data available for SIGNOR curated interactions for RBP4 Gene

Drugs & Compounds for RBP4 Gene

(43) Drugs for RBP4 Gene - From: DrugBank, ClinicalTrials, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Carrier 492
2-[({4-[2-(trifluoromethyl)phenyl]piperidin-1-yl}carbonyl)amino]benzoic acid Experimental Pharma Carrier 0
N-Ethyl Retinamide Experimental Pharma Carrier 0
Fenretinide Investigational Pharma Carrier Synthetic retinoid agonist 42
Retinol palmitate Pharma 492

(38) Additional Compounds for RBP4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for RBP4 Gene

Compound Action Cas Number
Vitamin A Acetate Unsaturated nutritional hydrocarbons 127-47-9
genes like me logo Genes that share compounds with RBP4: view

Drug Products

Transcripts for RBP4 Gene

Unigene Clusters for RBP4 Gene

Retinol binding protein 4, plasma:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBP4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:

Relevant External Links for RBP4 Gene

GeneLoc Exon Structure for
RBP4
ECgene alternative splicing isoforms for
RBP4

Expression for RBP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBP4 Gene

This gene is overexpressed in Liver (x41.7).

Protein differential expression in normal tissues from HIPED for RBP4 Gene

This gene is overexpressed in Serum (24.0), Synovial fluid (14.2), and Plasma (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBP4 Gene



Protein tissue co-expression partners for RBP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of RBP4 Gene:

RBP4

SOURCE GeneReport for Unigene cluster for RBP4 Gene:

Hs.50223

Evidence on tissue expression from TISSUES for RBP4 Gene

  • Liver(4.9)
  • Pancreas(3.6)
  • Blood(2.7)
  • Kidney(2.7)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBP4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • aorta
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
  • ureter
  • uterus
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with RBP4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for RBP4 Gene

Orthologs for RBP4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBP4 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia RBP4 34 35
  • 91.38 (n)
cow
(Bos Taurus)
Mammalia RBP4 34 35
  • 91.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBP4 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbp4 34 16 35
  • 85.24 (n)
rat
(Rattus norvegicus)
Mammalia Rbp4 34
  • 84.74 (n)
oppossum
(Monodelphis domestica)
Mammalia RBP4 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBP4 34 35
  • 77.65 (n)
lizard
(Anolis carolinensis)
Reptilia RBP4 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbp4 34
  • 65.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia rbp4-prov 34
zebrafish
(Danio rerio)
Actinopterygii rbp4 34 35
  • 65.71 (n)
Species where no ortholog for RBP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBP4 Gene

ENSEMBL:
Gene Tree for RBP4 (if available)
TreeFam:
Gene Tree for RBP4 (if available)

Paralogs for RBP4 Gene

No data available for Paralogs for RBP4 Gene

Variants for RBP4 Gene

Sequence variations from dbSNP and Humsavar for RBP4 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121918584 Pathogenic, Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147] 93,600,739(-) CAACA(A/T)CGTCG reference, missense
rs121918585 Pathogenic, Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147] 93,600,470(-) GGTGG(A/G)CACCT reference, missense
rs794726861 Pathogenic, Microphthalmia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428] 93,600,692(-) CCACA(A/G)CCAAG reference, missense
rs794726862 Pathogenic, Microphthalmia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428] 93,600,698(-) TGAGC(A/G)CCACA reference, missense
rs112811136 Pathogenic 93,600,917(+) ACCTA(A/C/G/T)GCGAG splice-donor-variant

Variation tolerance for RBP4 Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBP4 Gene

Human Gene Mutation Database (HGMD)
RBP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RBP4 Gene

Disorders for RBP4 Gene

MalaCards: The human disease database

(19) MalaCards diseases for RBP4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RBP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RET4_HUMAN
  • Microphthalmia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269 PubMed:25910211}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]: A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne. {ECO:0000269 PubMed:10232633, ECO:0000269 PubMed:23189188, ECO:0000269 PubMed:9888420}. Note=The disease is caused by mutations affecting the gene represented in this entry. Loss of functional RBP4 protein results in serum retinol deficiency. Lack of normal levels of retinol impairs the visual cycle leading to night blindness at early stages; prolonged deficiency may lead to retinal degeneration. Additionally, retinol deficiency may result in dry skin, increased susceptibility to infection and acne (PubMed:23189188). {ECO:0000269 PubMed:23189188}.

Genatlas disease for RBP4 Gene

night blindness and progressive atrophy of the retinal pigment epithelium,autosomal recessive,with retinol binding protein 4 deficiency

Relevant External Links for RBP4

Genetic Association Database (GAD)
RBP4
Human Genome Epidemiology (HuGE) Navigator
RBP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBP4
genes like me logo Genes that share disorders with RBP4: view

Publications for RBP4 Gene

  1. Regulatory SNP in the RBP4 gene modified the expression in adipocytes and associated with BMI. (PMID: 19851303) Munkhtulga L. … Iwamoto S. (Obesity (Silver Spring) 2010) 3 22 46 64
  2. Effect of RBP4 gene variants on circulating RBP4 concentration and type 2 diabetes in a Chinese population. (PMID: 18199128) Hu C. … Xiang K. (Diabet. Med. 2008) 3 22 46 64
  3. Effects of genetic variation in the human retinol binding protein-4 gene (RBP4) on insulin resistance and fat depot-specific mRNA expression. (PMID: 17728376) Kovacs P. … Stumvoll M. (Diabetes 2007) 3 22 46 64
  4. The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP. (PMID: 10052934) Naylor H.M. … Newcomer M.E. (Biochemistry 1999) 3 4 22 64
  5. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. (PMID: 25910211) Chou C.M. … Glaser T. (Cell 2015) 3 4 64

Products for RBP4 Gene

Sources for RBP4 Gene

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