GediPNet logo

RBP4 (retinol binding protein 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5950
Gene nameGene Name - the full gene name approved by the HGNC.
Retinol binding protein 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RBP4
SynonymsGene synonyms aliases
MCOPCB10, RDCCAS
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.33
SummarySummary 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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0001654 Process Eye development IMP 10232633
GO:0001654 Process Eye development ISS
GO:0002639 Process Positive regulation of immunoglobulin production ISS
GO:0005515 Function Protein binding IPI 986177, 11080066, 12228058, 21777382, 29997244
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
Sequence length 201
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
Retinoid metabolism disease events
Retinoid metabolism and transport
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 16316942
Microphthalmia with coloboma Colobomatous microphthalmia, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 rs387906910, rs587776950, rs794726861, rs794726862, rs755000701, rs1243762658, rs919662130, rs753315599, rs2091986259 25910211
Congenital ocular coloboma Congenital ocular coloboma (disorder) rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799 29178648
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 16367923
Unknown
Disease name Disease term dbSNP ID References
Anaplastic carcinoma Anaplastic carcinoma 16316942
Comedonal acne Comedonal acne
Congenital coloboma of iris Congenital coloboma of iris
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 26670611

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412