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RBP4 Gene

protein-coding   GIFtS: 65
GCID: GC10M095341

Retinol Binding Protein 4, Plasma

(Previous names: retinol-binding protein 4, plasma)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinol Binding Protein 4, Plasma1 2     RDCCAS2 5
Plasma Retinol-Binding Protein2 3     Retinol-Binding Protein 4, Plasma1
PRBP2 3     Retinol-Binding Protein 42
RBP2 3     Retinol-Binding Protein 4, Interstitial2

External Ids:    HGNC: 99221   Entrez Gene: 59502   Ensembl: ENSG000001382077   OMIM: 1802505   UniProtKB: P027533   

Export aliases for RBP4 gene to outside databases

Previous GC identifers: GC10M094244 GC10M094585 GC10M095482 GC10M095016 GC10M088979


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, plasma) is a protein-coding gene. Diseases associated with RBP4 include retinol dystrophy, iris coloboma, and comedogenic acne syndrome, and pseudotumor cerebri. GO annotations related to this gene include retinal binding and protein heterodimerization activity.

UniProtKB/Swiss-Prot: RET4_HUMAN, P02753
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 Wiki entry for RBP4 (Retinol binding protein 4) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBP4 gene promoter:
         PPAR-gamma1   AP-2beta   PPAR-gamma2   AP-2gamma   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBP4 promoter sequence
   Search Chromatin IP Primers for RBP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBP4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.33   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q23.33

RBP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBP4 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M095341:  view genomic region     (about GC identifiers)

Start:
95,351,444 bp from pter      End:
95,361,501 bp from pter
Size:
10,058 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RET4_HUMAN, P02753 (See protein sequence)
Recommended Name: Retinol-binding protein 4 precursor  
Size: 201 amino acids; 23010 Da
Mass spectrometry: Mass=21063.46; Mass_error=1.88; Method=Electrospray; Range=17-199; Source=PubMed:7666002;
Mass spectrometry: Mass=20534; Method=MALDI; Range=19-197; Source=PubMed:12237133;
Mass spectrometry: Mass=20162; Method=MALDI; Range=19-194; Source=PubMed:12237133;
Sequence caution: Sequence=AAF69622.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for RBP4 (see all 12):
1BRP (3D)        1BRQ (3D)        1JYD (3D)        1JYJ (3D)        1QAB (3D)        1RBP (3D)    
Secondary accessions: D3DR38 O43478 O43479 Q5VY24 Q8WWA3 Q9P178

Explore the universe of human proteins at neXtProt for RBP4: NX_P02753

Explore proteomics data for RBP4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RBP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006735.2  
    ENSEMBL proteins: 
     ENSP00000360519   ENSP00000360522   ENSP00000360524  
    Reactome Protein details: P02753

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LCN: Lipocalins

    Selected InterPro protein domains (see all 7):
     IPR022271 Lipocalin_ApoD
     IPR012674 Calycin
     IPR011038 Calycin-like
     IPR002345 Lipocalin
     IPR022272 Lipocalin_CS

    Graphical View of Domain Structure for InterPro Entry P02753

    ProtoNet protein and cluster: P02753

    2 Blocks protein domains:
    IPB002345 Lipocalin signature
    IPB002449 Retinol binding protein signature


    UniProtKB/Swiss-Prot: RET4_HUMAN, P02753
    Similarity: Belongs to the calycin superfamily. Lipocalin family


    RBP4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RET4_HUMAN, P02753
    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

         Genatlas biochemistry entry for RBP4:
    retinol binding protein 4,serum (lipocalin family,Kernel group),monomer,binding to transthyretin

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12228058
    GO:0016918retinal binding IEA--
    GO:0019841retinol binding IDA571335
    GO:0034632retinol transporter activity IC571335
    GO:0046982protein heterodimerization activity IEA--
         
    RBP4 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rbp4):
     cardiovascular system  cellular  endocrine/exocrine gland  homeostasis/metabolism  muscle 
     normal  reproductive system  vision/eye 

    RBP4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RBP4: Rbp4tm1.1Mma Rbp4tm1Gott

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBP4
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    2 qRT-PCR Assays for microRNAs that regulate RBP4:
    hsa-miR-577 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidRBP4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RBP4

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RET4_HUMAN, P02753: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--
    GO:0005829cytosol TAS--
    GO:0043234protein complex IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    RBP4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RBP4 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1the visual cycle I (vertebrates)
    the visual cycle I (vertebrates)0.52
    The canonical retinoid cycle in rods (twilight vision)0.44
    retinol biosynthesis0.52
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    Retinoid cycle disease events0.00
    3retinoate biosynthesis I
    retinoate biosynthesis I
    retinoate biosynthesis II0.00
    4Signaling by GPCR
    Signal Transduction0.58
    5IL-9 Signaling Pathways
    Adipocytokines and Insulin Signaling0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RBP4
        Adipocytokines & Insulin Signaling

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RBP4
        Visual Cycle in Retinal Rods

    Selected BioSystems Pathways for RBP4 (see all 6)
        Vitamin A and carotenoid metabolism
    SREBP signalling
    retinoate biosynthesis II
    retinoate biosynthesis I
    the visual cycle I (vertebrates)


    3 Reactome Pathways for RBP4
        Retinoid metabolism and transport
    Retinoid cycle disease events
    The canonical retinoid cycle in rods (twilight vision)



    RBP4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBP4: 
              Insulin Resistance in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for RBP4 (P027531, 2, 3 ENSP000003605194) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTRP027662, 3, ENSP000002370144MINT-8195884 I2D: score=4 STRING: ENSP00000237014
    RBBP6Q7Z6E93, ENSP000003178724I2D: score=1 STRING: ENSP00000317872
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    RPE65Q165183, ENSP000002623404I2D: score=1 STRING: ENSP00000262340
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0001654eye development ISS--
    GO:0006094gluconeogenesis ISS--
    GO:0007283spermatogenesis IEA--
    GO:0007507heart development ISS--

    RBP4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBP4 (RET4)

    5 DrugBank Compounds for RBP4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8carrier--16181461 16150442 17529981 17001693 17566551
    All-Trans Axerophthene-- --carrier--17139284 17016423 10592235
    Fenretinide4-HPR (see all 3)65646-68-6carrier--17139284 17016423 10592235
    N-Ethyl Retinamide-- --carrier--17139284 17016423 10592235
    2-[({4-[2-(trifluoromethyl)phenyl]piperidin-1-yl}carbonyl)amino]benzoic acid-- --carrier--10592235

    Selected Novoseek inferred chemical compound relationships for RBP4 gene (see all 74)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin a 94.8 1619 18641048 (9), 14749226 (9), 18426837 (9), 11237937 (9) (see all 99)
    retinyl palmitate 65.6 6 8604659 (2), 18952041 (1), 7551819 (1), 2108233 (1)
    retinoid 63.5 27 15314099 (2), 7586162 (2), 15757863 (2), 1386578 (1) (see all 17)
    n-4-methoxyphenylretinamide 62.1 2 7586162 (1), 2140925 (1)
    creatinine 58.4 101 11248475 (4), 9614399 (4), 9367006 (3), 1790129 (2) (see all 48)
    retinyl ester 54.2 2 8290933 (2)
    glucose 53.4 230 19506831 (6), 18430770 (5), 19766271 (5), 19190263 (5) (see all 71)
    retinoic acid 52.2 36 16101150 (3), 19015161 (3), 10199796 (2), 8408080 (2) (see all 19)
    betacarotene 51.1 16 8926532 (2), 18209407 (2), 19255795 (2), 15379913 (1) (see all 12)
    purpurin 49.9 4 1601873 (2), 1915658 (1)



    RBP4 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RBP4 gene: 
    NM_006744.3  

    Unigene Cluster for RBP4:

    Retinol binding protein 4, plasma
    Hs.50223  [show with all ESTs]
    Unigene Representative Sequence: BQ064708
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371464(uc001kit.3) ENST00000371467 ENST00000371469

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    Additional mRNA sequence: 

    BC020633.1 X00129.1 

    11 DOTS entries:

    DT.449609  DT.101987968  DT.95269390  DT.121212756  DT.108214  DT.95269391  DT.100740972  DT.95269382 
    DT.121212750  DT.91783506  DT.95269381 

    Selected AceView cDNA sequences (see all 276):

    AA746036 CA843571 H26422 AI983588 BQ787983 AV662271 C00760 CA772163 
    BE348621 AI111174 CA843636 AV652752 BQ271126 AI132990 CB164062 CA866827 
    AV655437 CA776212 AV648544 AV682742 BM090826 CA308679 R54700 AV683638 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RBP4    About this scheme

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


    ECgene alternative splicing isoforms for RBP4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGGCACCT
    RBP4 Expression
    About this image


    RBP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Cardiomyocyte-like progenitor cells
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
    RBP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBP4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.50223
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBP4: 
              Insulin Resistance in human mouse rat
              Fatty Liver in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBP4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RBP4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbp41 , 5 retinol binding protein 4, plasma1, 5 85.24(n)1
    85.57(a)1
      19 (32.75 cM)5
    196621  NM_001159487.11  NP_001152959.11 
     381166205 
    chicken
    (Gallus gallus)
    Aves RBP41 retinol binding protein 4, plasma 77.65(n)
    86.59(a)
      396166  NM_205238.1  NP_990569.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBP46
    retinol binding protein 4, plasma
    60(a)
    1 ↔ 1
    GL343219.1(1902388-1928997)
    African clawed frog
    (Xenopus laevis)
    Amphibia rbp4-prov2 retinol binding protein 4, plasma 74.22(n)    BC044674.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbp42 retinol binding protein 4, plasma 73.68(n)   30077  AJ236884.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBP4 (see all 306)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs108822831,2
    C,A--88988724(+) CGCCGA/CGTCCG 1 -- ut510--------
    rs1383178941,2
    C--95351108(+) TTCCTA/GTAGAA 1 -- ds50010--------
    rs1851434831,2
    --95351196(+) GAGGTC/GAGCTG 1 -- ds50010--------
    rs1438957711,2
    --95351222(+) AAAGGA/GCTAAG 1 -- ds50010--------
    rs728209781,2
    C--95351237(+) GTTTCC/GTAGAG 1 -- ds50010--------
    rs1408471271,2
    --95351287(+) ACTGGG/TGAGCT 1 -- ds50010--------
    rs1492974581,2
    --95351301(+) AGCCCA/GCCCAC 1 -- ds50010--------
    rs1913140851,2
    --95351306(+) GCCCAC/TCTCAC 1 -- ds50010--------
    rs345714391,2
    C,F,H--95351310(+) ACCTCA/CCTCAC 1 -- ds500120Minor allele frequency- C:0.24NS EA NA WA CSA 2344
    rs1115587821,2
    C,F--95351396(+) TTGGCC/GAGGCT 1 -- ds50012Minor allele frequency- G:0.06CSA WA 122

    HapMap Linkage Disequilibrium report for RBP4 (95351444 - 95361501 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RBP4: --
    Human Gene Mutation Database (HGMD): RBP4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBP4
    DNA2.0 Custom Variant and Variant Library Synthesis for RBP4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 180250   
    OMIM disorders: 615147  
    UniProtKB/Swiss-Prot: RET4_HUMAN, P02753
  • 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. 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)

  • Selected diseases for RBP4 (see all 105):    
    About MalaCards
    retinol dystrophy, iris coloboma, and comedogenic acne syndrome    pseudotumor cerebri    hypervitaminosis a    protein-energy malnutrition
    bronchopulmonary dysplasia    fatty liver disease    transthyretin amyloidosis    gestational diabetes
    diffuse idiopathic skeletal hyperostosis    intracranial hypertension    interstitial nephritis    hyperostosis
    glucose intolerance    proteinuria    nephritis    split foot
    measles    matthew-wood syndrome    obesity, association with    polycystic ovary syndrome

    2 diseases from the University of Copenhagen DISEASES database for RBP4:
    Diabetes mellitus     Fatty liver disease

    RBP4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for RBP4 gene (see all 81)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin a deficiency 82.8 32 14749226 (3), 19568486 (3), 16702331 (2), 1493768 (1) (see all 19)
    insulin resistance 79.7 439 18390799 (7), 18588869 (7), 19766271 (6), 18641048 (5) (see all 99)
    insulin sensitivity 68.6 77 18239568 (5), 17405846 (3), 18430770 (3), 17294166 (3) (see all 32)
    hypervitaminosis a 63.5 1 1517032 (1)
    obesity 55.7 122 17341558 (4), 19501863 (3), 16034410 (3), 17656599 (3) (see all 45)
    albuminuria 55 11 12702785 (2), 18973209 (2), 19839150 (1), 2250610 (1) (see all 6)
    proximal renal tubular dysfunction 54.3 1 8084448 (1)
    proteinuria 52.4 18 10620205 (5), 8084448 (2), 8448868 (2), 1379421 (1) (see all 11)
    protein-energy malnutrition 52.2 1 11470636 (1)
    microalbuminuria 50.9 15 17568782 (4), 19506831 (4), 15016173 (2), 18973209 (2) (see all 7)

    Genatlas disease: RBP4
    night blindness and progressive atrophy of the retinal pigment epithelium,autosomal recessive,with retinol
    binding protein 4 deficiency

    Genetic Association Database (GAD): RBP4
    Human Genome Epidemiology (HuGE) Navigator: RBP4 (14 documents)

    Export disorders for RBP4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBP4 gene, integrated from 10 sources (see all 729):
    (articles sorted by number of sources associating them with RBP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP. (PubMed id 10052934)1, 2, 9 Naylor H.M. and Newcomer M.E. (Biochemistry 1999)
    2. Effect of RBP4 gene variants on circulating RBP4 concentration and type 2 diabetes in a Chinese population. (PubMed id 18199128)1, 4, 9 Hu C....Xiang K. (Diabet. Med. 2008)
    3. Effects of genetic variation in the human retinol binding protein-4 gene (RBP4) on insulin resistance and fat depot-specific mRNA expression. (PubMed id 17728376)1, 4, 9 Kovacs P....Stumvoll M. (Diabetes 2007)
    4. Comparative urine protein phenotyping using mass spectrometric immunoassay. (PubMed id 12716133)1, 2, 9 Kiernan U.A.... Nelson R.W. (J. Proteome Res. 2003)
    5. Characterization of two post-translationally processed forms of human serum retinol-binding protein: altered ratios in chronic renal failure. (PubMed id 7666002)1, 2, 9 Jaconi S.... Siegenthaler G. (J. Lipid Res. 1995)
    6. Regulatory SNP in the RBP4 gene modified the expression in adipocytes and associated with BMI. (PubMed id 19851303)1, 4, 9 Munkhtulga L....Iwamoto S. (Obesity (Silver Spring) 2010)
    7. Evaluation of the association between retinal binding protein 4 polymorphisms and type 2 diabetes in Chinese by DHPLC. (PubMed id 18937078)1, 4, 9 Liu J....Xie X.D. (Endocrine 2008)
    8. Retinol binding protein 4 as a candidate gene for type 2 diabetes and prediabetic intermediate traits. (PubMed id 17174134)1, 4, 9 Craig R.L....Elbein S.C. (Mol. Genet. Metab. 2007)
    9. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. (PubMed id 23189188)1, 2 Cukras C.... Ayyagari R. (PLoS ONE 2012)
    10. Case-control analysis of SNPs in GLUT4, RBP4 and STRA6: association of SNPs in STRA6 with type 2 diabetes in a South Indian population. (PubMed id 20625434)1, 4 Nair A.K....Anilkumar G. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5950 HGNC: 9922 AceView: RBP4 Ensembl:ENSG00000138207 euGenes: HUgn5950
    ECgene: RBP4 H-InvDB: RBP4

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBP4 Pharmacogenomics, SNPs, Pathways
    Mutations of the RBP4 genehttp://www.retina-international.org/files/sci-news/rlbp4mut.htm
    Wikipedia http://en.wikipedia.org/wiki/Retinol_binding_protein_4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBP4 gene:
    Search GeneIP for patents involving RBP4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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