CleftGeneDB-Search

Gene: RBP4

Basic information

Tag	Content
Uniprot ID	P02753; D3DR38; O43478; O43479; Q5VY24; Q8WWA3; Q9P178;
Entrez ID	5950
Genbank protein ID	AAF69622.1; CAB46489.1; CAA24959.1; AAC02945.1; AAC02946.1; EAW50065.1; EAW50067.1; EAW50066.1; AAH20633.1; CAA26553.1;
Genbank nucleotide ID	NM_001323517.1; NM_001323518.1; NM_006744.3;
Ensembl protein ID	ENSP00000360522; ENSP00000360519;
Ensembl nucleotide ID	ENSG00000138207
Gene name	Retinol-binding protein 4
Gene symbol	RBP4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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 transport across the cell membrane (PubMed:22665496).
Sequence	MKWVWALLLL AALGSGRAER DCRVSSFRVK ENFDKARFSG TWYAMAKKDP EGLFLQDNIV 60 AEFSVDETGQ MSATAKGRVR LLNNWDVCAD MVGTFTDTED PAKFKMKYWG VASFLQKGND 120 DHWIVDTDYD TYAVQYSCRL LNLDGTCADS YSFVFSRDPN GLPPEAQKIV RQRQEELCLA 180 RQYRLIVHNG YCDGRSERNL L 201

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1BRP
1BRQ
1JYD
1JYJ
1QAB
1RBP
1RLB
2WQ9
2WQA
2WR6
3BSZ
3FMZ
4O9S
4PSQ
5NTY
5NU2
5NU6
5NU7
5NU8
5NU9
5NUA
5NUB
1BRP
1QAB
1RLB
3BSZ
5NU2

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	RBP4	281444	G1K122		Bos taurus	Prediction	More>>
1:1 ortholog	RBP4		A0A452FU43		Capra hircus	Prediction	More>>
1:1 ortholog	RBP4	5950	P02753		Homo sapiens	Prediction	More>>
1:1 ortholog	Rbp4	19662	Q00724	CPO	Mus musculus	Publication	More>>
1:1 ortholog	RBP4	450617	P61641		Pan troglodytes	Prediction	More>>
1:1 ortholog	RBP4		F1SC80		Sus scrofa	Prediction	More>>
1:1 ortholog	Rbp4	25703	P04916		Rattus norvegicus	Prediction	More>>
1:1 ortholog	rbp4	30077	Q9PT95		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1223394124	p.Lys2Asn	missense variant	-	NC_000010.11:g.93601023C>G	gnomAD
rs759490328	p.Val4Met	missense variant	-	NC_000010.11:g.93601019C>T	ExAC,TOPMed,gnomAD
rs759490328	p.Val4Leu	missense variant	-	NC_000010.11:g.93601019C>G	ExAC,TOPMed,gnomAD
rs1213587529	p.Trp5Arg	missense variant	-	NC_000010.11:g.93601016A>G	gnomAD
rs774496890	p.Ala6Val	missense variant	-	NC_000010.11:g.93601012G>A	ExAC,gnomAD
RCV000175830	p.Ala6Val	missense variant	-	NC_000010.11:g.93601012G>A	ClinVar
NCI-TCGA novel	p.Ala6Thr	missense variant	-	NC_000010.11:g.93601013C>T	NCI-TCGA
rs974187494	p.Leu7Phe	missense variant	-	NC_000010.11:g.93601010G>A	TOPMed
rs11546956	p.Leu8Phe	missense variant	-	NC_000010.11:g.93601005C>A	ESP,ExAC,TOPMed,gnomAD
RCV000596945	p.Leu8Phe	missense variant	-	NC_000010.11:g.93601005C>A	ClinVar
rs529161250	p.Leu9Gln	missense variant	-	NC_000010.11:g.93601003A>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu9Arg	missense variant	-	NC_000010.11:g.93601003A>C	NCI-TCGA
rs1287578767	p.Ala11Val	missense variant	-	NC_000010.11:g.93600997G>A	gnomAD
rs560465876	p.Gly14Asp	missense variant	-	NC_000010.11:g.93600988C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758073926	p.Ser15Gly	missense variant	-	NC_000010.11:g.93600986T>C	ExAC,TOPMed,gnomAD
RCV000303109	p.Ser15Gly	missense variant	-	NC_000010.11:g.93600986T>C	ClinVar
rs971623953	p.Arg17Leu	missense variant	-	NC_000010.11:g.93600979C>A	TOPMed
rs1185115684	p.Ala18Ser	missense variant	-	NC_000010.11:g.93600977C>A	gnomAD
rs1218547712	p.Glu19Gln	missense variant	-	NC_000010.11:g.93600974C>G	TOPMed
rs1023148051	p.Cys22Ter	stop gained	-	NC_000010.11:g.93600963G>T	TOPMed
rs1259782555	p.Arg23Gly	missense variant	-	NC_000010.11:g.93600962G>C	TOPMed,gnomAD
rs1259782555	p.Arg23Ter	stop gained	-	NC_000010.11:g.93600962G>A	TOPMed,gnomAD
rs756894160	p.Arg23Pro	missense variant	-	NC_000010.11:g.93600961C>G	ExAC,gnomAD
rs753792133	p.Val24Leu	missense variant	-	NC_000010.11:g.93600959C>G	ExAC,TOPMed,gnomAD
rs753792133	p.Val24Met	missense variant	-	NC_000010.11:g.93600959C>T	ExAC,TOPMed,gnomAD
COSM5168325	p.Val24Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.93600958A>G	NCI-TCGA Cosmic
rs755814837	p.Ser25Asn	missense variant	-	NC_000010.11:g.93600955C>T	ExAC,gnomAD
rs1273383655	p.Ser26Gly	missense variant	-	NC_000010.11:g.93600953T>C	TOPMed
NCI-TCGA novel	p.Arg28Gln	missense variant	-	NC_000010.11:g.93600946C>T	NCI-TCGA
rs1262010191	p.Lys30Arg	missense variant	-	NC_000010.11:g.93600940T>C	gnomAD
rs1325307676	p.Lys30Glu	missense variant	-	NC_000010.11:g.93600941T>C	gnomAD
rs752565532	p.Glu31Gln	missense variant	-	NC_000010.11:g.93600938C>G	ExAC
rs1292870418	p.Glu31Val	missense variant	-	NC_000010.11:g.93600937T>A	gnomAD
NCI-TCGA novel	p.Glu31Lys	missense variant	-	NC_000010.11:g.93600938C>T	NCI-TCGA
rs887978696	p.Asn32Asp	missense variant	-	NC_000010.11:g.93600935T>C	TOPMed
rs1384395427	p.Phe33Leu	missense variant	-	NC_000010.11:g.93600932A>G	gnomAD
rs1049674420	p.Arg37His	missense variant	-	NC_000010.11:g.93600919C>T	TOPMed
rs759820276	p.Arg37Gly	missense variant	-	NC_000010.11:g.93600920G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe38Val	missense variant	-	NC_000010.11:g.93600803A>C	NCI-TCGA
rs1331074048	p.Ser39Pro	missense variant	-	NC_000010.11:g.93600800A>G	gnomAD
rs760990155	p.Gly40Glu	missense variant	-	NC_000010.11:g.93600796C>T	ExAC,gnomAD
rs367834906	p.Thr41Ile	missense variant	-	NC_000010.11:g.93600793G>A	ESP,ExAC,TOPMed,gnomAD
rs1367448735	p.Ala44Val	missense variant	-	NC_000010.11:g.93600784G>A	gnomAD
rs748737715	p.Ala44Ser	missense variant	-	NC_000010.11:g.93600785C>A	ExAC,gnomAD
rs1163778506	p.Met45Leu	missense variant	-	NC_000010.11:g.93600782T>G	TOPMed,gnomAD
rs374519908	p.Met45Thr	missense variant	-	NC_000010.11:g.93600781A>G	ESP,ExAC,TOPMed,gnomAD
rs748116788	p.Lys48Arg	missense variant	-	NC_000010.11:g.93600772T>C	ExAC,gnomAD
rs781035891	p.Glu51Val	missense variant	-	NC_000010.11:g.93600763T>A	ExAC,gnomAD
rs1267538782	p.Glu51Lys	missense variant	-	NC_000010.11:g.93600764C>T	gnomAD
rs780211759	p.Leu53Val	missense variant	-	NC_000010.11:g.93600758G>C	ExAC,gnomAD
rs1348939241	p.Gln56Arg	missense variant	-	NC_000010.11:g.93600748T>C	gnomAD
NCI-TCGA novel	p.Gln56Ter	stop gained	-	NC_000010.11:g.93600749G>A	NCI-TCGA
rs121918584	p.Ile59Asn	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (rdccas)	NC_000010.11:g.93600739A>T	-
rs121918584	p.Ile59Asn	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	UniProt,dbSNP
VAR_009276	p.Ile59Asn	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	UniProt
RCV000013942	p.Ile59Asn	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	ClinVar
rs369214755	p.Val60Ile	missense variant	-	NC_000010.11:g.93600737C>T	ESP,ExAC,gnomAD
rs369214755	p.Val60Leu	missense variant	-	NC_000010.11:g.93600737C>G	ESP,ExAC,gnomAD
rs1345180631	p.Val65Met	missense variant	-	NC_000010.11:g.93600722C>T	gnomAD
rs761838369	p.Gly69Cys	missense variant	-	NC_000010.11:g.93600710C>A	ExAC,TOPMed,gnomAD
rs761838369	p.Gly69Ser	missense variant	-	NC_000010.11:g.93600710C>T	ExAC,TOPMed,gnomAD
rs1286979622	p.Gly69Asp	missense variant	-	NC_000010.11:g.93600709C>T	TOPMed
rs754347794	p.Gln70Glu	missense variant	-	NC_000010.11:g.93600707G>C	ExAC,gnomAD
rs764527292	p.Met71Ile	missense variant	-	NC_000010.11:g.93600702C>T	ExAC,gnomAD
rs1400085004	p.Ser72Arg	missense variant	-	NC_000010.11:g.93600701T>G	gnomAD
rs1208647799	p.Ser72Ile	missense variant	-	NC_000010.11:g.93600700C>A	TOPMed
rs794726862	p.Ala73Thr	missense variant	-	NC_000010.11:g.93600698C>T	-
RCV000173003	p.Ala73Thr	missense variant	Microphthalmia, isolated, with coloboma 10 (MCOPCB10)	NC_000010.11:g.93600698C>T	ClinVar
RCV000173002	p.Ala75Thr	missense variant	Microphthalmia, isolated, with coloboma 10 (MCOPCB10)	NC_000010.11:g.93600692C>T	ClinVar
rs794726861	p.Ala75Thr	missense variant	-	NC_000010.11:g.93600692C>T	-
rs1160142936	p.Val79Gly	missense variant	-	NC_000010.11:g.93600679A>C	gnomAD
rs1457436938	p.Arg80His	missense variant	-	NC_000010.11:g.93600676C>T	gnomAD
rs956132306	p.Leu81Val	missense variant	-	NC_000010.11:g.93600674G>C	TOPMed
NCI-TCGA novel	p.Leu81Ile	missense variant	-	NC_000010.11:g.93600674G>T	NCI-TCGA
rs1169740878	p.Trp85Arg	missense variant	-	NC_000010.11:g.93600495A>T	gnomAD
rs1340137234	p.Asp86Val	missense variant	-	NC_000010.11:g.93600491T>A	TOPMed
rs1274405447	p.Asp86His	missense variant	-	NC_000010.11:g.93600492C>G	TOPMed
rs1383758574	p.Ala89Thr	missense variant	-	NC_000010.11:g.93600483C>T	gnomAD
rs1483784837	p.Asp90Ala	missense variant	-	NC_000010.11:g.93600479T>G	gnomAD
COSM4016763	p.Asp90Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.93600480C>T	NCI-TCGA Cosmic
rs1232455607	p.Met91Ile	missense variant	-	NC_000010.11:g.93600475C>T	gnomAD
rs121918585	p.Gly93Asp	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (rdccas)	NC_000010.11:g.93600470C>T	-
rs121918585	p.Gly93Asp	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	UniProt,dbSNP
VAR_009277	p.Gly93Asp	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	UniProt
RCV000013943	p.Gly93Asp	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	ClinVar
rs200867321	p.Gly93Ser	missense variant	-	NC_000010.11:g.93600471C>T	1000Genomes,TOPMed
rs201407285	p.Glu99Lys	missense variant	-	NC_000010.11:g.93600453C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs749329416	p.Pro101Ser	missense variant	-	NC_000010.11:g.93600447G>A	ExAC,gnomAD
rs149091963	p.Pro101Leu	missense variant	-	NC_000010.11:g.93600446G>A	ESP,TOPMed,gnomAD
rs149091963	p.Pro101His	missense variant	-	NC_000010.11:g.93600446G>T	ESP,TOPMed,gnomAD
rs1229755738	p.Ala102Ser	missense variant	-	NC_000010.11:g.93600444C>A	gnomAD
rs145044751	p.Met106Leu	missense variant	-	NC_000010.11:g.93600432T>A	ESP,ExAC,TOPMed,gnomAD
rs1278543743	p.Lys107Glu	missense variant	-	NC_000010.11:g.93600429T>C	gnomAD
rs966917637	p.Tyr108Cys	missense variant	-	NC_000010.11:g.93600425T>C	-
NCI-TCGA novel	p.Trp109Cys	missense variant	-	NC_000010.11:g.93600421C>A	NCI-TCGA
rs753226964	p.Ser113Phe	missense variant	-	NC_000010.11:g.93600410G>A	ExAC,gnomAD
rs755349479	p.Gln116His	missense variant	-	NC_000010.11:g.93600400C>A	ExAC,TOPMed,gnomAD
rs1554887443	p.Gly118Glu	missense variant	-	NC_000010.11:g.93600395C>T	-
RCV000585464	p.Gly118Glu	missense variant	-	NC_000010.11:g.93600395C>T	ClinVar
rs753409149	p.Asn119Ile	missense variant	-	NC_000010.11:g.93594035T>A	ExAC,gnomAD
rs1213305527	p.Trp123Arg	missense variant	-	NC_000010.11:g.93594024A>G	gnomAD
rs1330964708	p.Trp123Cys	missense variant	-	NC_000010.11:g.93594022C>A	gnomAD
rs370579379	p.Val125Ile	missense variant	-	NC_000010.11:g.93594018C>T	ESP,TOPMed,gnomAD
rs752204198	p.Asp126Asn	missense variant	-	NC_000010.11:g.93594015C>T	ExAC,gnomAD
rs752204198	p.Asp126His	missense variant	-	NC_000010.11:g.93594015C>G	ExAC,gnomAD
rs759375642	p.Asp128Asn	missense variant	-	NC_000010.11:g.93594009C>T	ExAC,TOPMed,gnomAD
rs377583528	p.Tyr129Cys	missense variant	-	NC_000010.11:g.93594005T>C	ESP,TOPMed
rs368943307	p.Asp130Asn	missense variant	-	NC_000010.11:g.93594003C>T	ESP,ExAC,TOPMed,gnomAD
rs577540732	p.Thr131Met	missense variant	-	NC_000010.11:g.93593999G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs577540732	p.Thr131Lys	missense variant	-	NC_000010.11:g.93593999G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1329285216	p.Tyr132Asn	missense variant	-	NC_000010.11:g.93593997A>T	TOPMed
RCV000608678	p.Tyr132Asn	missense variant	Congenital ocular coloboma	NC_000010.11:g.93593997A>T	ClinVar
rs781436011	p.Val134Glu	missense variant	-	NC_000010.11:g.93593990A>T	ExAC,TOPMed,gnomAD
rs557609728	p.Val134Leu	missense variant	-	NC_000010.11:g.93593991C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs557609728	p.Val134Met	missense variant	-	NC_000010.11:g.93593991C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser137Phe	missense variant	-	NC_000010.11:g.93593981G>A	NCI-TCGA
rs747468011	p.Arg139His	missense variant	-	NC_000010.11:g.93593975C>T	ExAC,gnomAD
rs377707619	p.Arg139Cys	missense variant	-	NC_000010.11:g.93593976G>A	ESP,TOPMed,gnomAD
rs758640008	p.Leu143Phe	missense variant	-	NC_000010.11:g.93593964G>A	ExAC,TOPMed,gnomAD
rs1053926554	p.Asp144His	missense variant	-	NC_000010.11:g.93593961C>G	gnomAD
rs1053926554	p.Asp144Asn	missense variant	-	NC_000010.11:g.93593961C>T	gnomAD
rs1291563961	p.Ser152Phe	missense variant	-	NC_000010.11:g.93593936G>A	gnomAD
rs759129264	p.Val154Leu	missense variant	-	NC_000010.11:g.93593931C>A	ExAC,TOPMed,gnomAD
rs759129264	p.Val154Met	missense variant	-	NC_000010.11:g.93593931C>T	ExAC,TOPMed,gnomAD
rs766365350	p.Ser156Phe	missense variant	-	NC_000010.11:g.93593924G>A	ExAC,gnomAD
rs762620416	p.Arg157Gly	missense variant	-	NC_000010.11:g.93593922G>C	ExAC,gnomAD
rs762620416	p.Arg157Trp	missense variant	-	NC_000010.11:g.93593922G>A	ExAC,gnomAD
rs765499399	p.Asp158Tyr	missense variant	-	NC_000010.11:g.93593919C>A	ExAC,TOPMed,gnomAD
rs762114740	p.Asp158Glu	missense variant	-	NC_000010.11:g.93593917G>C	ExAC,TOPMed,gnomAD
rs1461501352	p.Pro159Ser	missense variant	-	NC_000010.11:g.93593916G>A	gnomAD
rs777062715	p.Pro159Leu	missense variant	-	NC_000010.11:g.93593915G>A	ExAC,gnomAD
rs1166604792	p.Asn160Ser	missense variant	-	NC_000010.11:g.93593912T>C	gnomAD
rs372010388	p.Gly161Ser	missense variant	-	NC_000010.11:g.93593910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372010388	p.Gly161Cys	missense variant	-	NC_000010.11:g.93593910C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1182824785	p.Gly161Asp	missense variant	-	NC_000010.11:g.93593909C>T	gnomAD
rs189196082	p.Pro163Ser	missense variant	-	NC_000010.11:g.93593904G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1200700147	p.Pro163Leu	missense variant	-	NC_000010.11:g.93593903G>A	gnomAD
rs761576794	p.Pro164Leu	missense variant	-	NC_000010.11:g.93593900G>A	ExAC,gnomAD
rs1300679356	p.Pro164Ser	missense variant	-	NC_000010.11:g.93593901G>A	TOPMed
rs761576794	p.Pro164Arg	missense variant	-	NC_000010.11:g.93593900G>C	ExAC,gnomAD
rs1343571696	p.Glu165Ala	missense variant	-	NC_000010.11:g.93593897T>G	gnomAD
rs780950382	p.Ala166Val	missense variant	-	NC_000010.11:g.93593894G>A	ExAC,TOPMed,gnomAD
rs758370370	p.Ile169Thr	missense variant	-	NC_000010.11:g.93593885A>G	ExAC,gnomAD
rs750444432	p.Ile169Met	missense variant	-	NC_000010.11:g.93593884A>C	ExAC,TOPMed,gnomAD
rs766167167	p.Ile169Phe	missense variant	-	NC_000010.11:g.93593886T>A	ExAC,TOPMed,gnomAD
rs766167167	p.Ile169Val	missense variant	-	NC_000010.11:g.93593886T>C	ExAC,TOPMed,gnomAD
rs761742578	p.Val170Gly	missense variant	-	NC_000010.11:g.93593882A>C	ExAC,gnomAD
rs769917680	p.Val170Leu	missense variant	-	NC_000010.11:g.93593883C>A	ExAC,TOPMed
rs761742578	p.Val170Ala	missense variant	-	NC_000010.11:g.93593882A>G	ExAC,gnomAD
rs139534453	p.Arg173Trp	missense variant	-	NC_000010.11:g.93593874G>A	ESP,ExAC,TOPMed,gnomAD
rs760604288	p.Arg173Gln	missense variant	-	NC_000010.11:g.93593873C>T	ExAC,TOPMed,gnomAD
rs775648139	p.Glu175Gly	missense variant	-	NC_000010.11:g.93593867T>C	ExAC,gnomAD
rs150540008	p.Glu176Asp	missense variant	-	NC_000010.11:g.93593863C>A	ESP,ExAC,TOPMed,gnomAD
rs772097627	p.Glu176Gly	missense variant	-	NC_000010.11:g.93593864T>C	ExAC,gnomAD
COSM3441675	p.Glu176Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.93593865C>T	NCI-TCGA Cosmic
rs771265283	p.Arg181Gly	missense variant	-	NC_000010.11:g.93593850T>C	ExAC,TOPMed,gnomAD
rs771265283	p.Arg181Trp	missense variant	-	NC_000010.11:g.93593850T>A	ExAC,TOPMed,gnomAD
rs116887052	p.Gln182Ter	stop gained	-	NC_000010.11:g.93593847G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116887052	p.Gln182Lys	missense variant	-	NC_000010.11:g.93593847G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000289013	p.Gln182Lys	missense variant	-	NC_000010.11:g.93593847G>T	ClinVar
rs1183800619	p.Arg184Gly	missense variant	-	NC_000010.11:g.93593841T>C	gnomAD
rs1483104291	p.Arg184Lys	missense variant	-	NC_000010.11:g.93593840C>T	gnomAD
NCI-TCGA novel	p.Arg184Met	missense variant	-	NC_000010.11:g.93593840C>A	NCI-TCGA
rs1291625732	p.Ile186Leu	missense variant	-	NC_000010.11:g.93593835T>G	gnomAD
rs374987431	p.Ile186Met	missense variant	-	NC_000010.11:g.93593833G>C	ESP,ExAC,TOPMed,gnomAD
rs779604024	p.Val187Ile	missense variant	-	NC_000010.11:g.93593832C>T	ExAC,TOPMed,gnomAD
rs758050576	p.His188Arg	missense variant	-	NC_000010.11:g.93593828T>C	ExAC,TOPMed,gnomAD
rs750356617	p.Asn189Ser	missense variant	-	NC_000010.11:g.93593825T>C	ExAC,TOPMed,gnomAD
rs1009832282	p.Gly190Ser	missense variant	-	NC_000010.11:g.93593823C>T	TOPMed,gnomAD
rs777620177	p.Asp193Asn	missense variant	-	NC_000010.11:g.93592104C>T	ExAC,gnomAD
rs772316438	p.Arg195Lys	missense variant	-	NC_000010.11:g.93592097C>T	TOPMed
COSM4858859	p.Glu197Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.93592092C>A	NCI-TCGA Cosmic
rs1250341170	p.Arg198Lys	missense variant	-	NC_000010.11:g.93592088C>T	gnomAD
rs752939815	p.Asn199Lys	missense variant	-	NC_000010.11:g.93592084G>T	ExAC,gnomAD
rs1411015042	p.Leu200Pro	missense variant	-	NC_000010.11:g.93592082A>G	TOPMed
rs767751790	p.Leu201Val	missense variant	-	NC_000010.11:g.93592080A>C	ExAC,gnomAD
rs1276584529	p.Leu201Trp	missense variant	-	NC_000010.11:g.93592079A>C	gnomAD
rs1220954894	p.Ter202Trp	stop lost	-	NC_000010.11:g.93592076T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000786	Spontaneous abortion	phenotype	CTD_human
C0000822	Abortion, Tubal	disease	CTD_human
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0003119	Anophthalmos	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0007097	Carcinoma	group	CTD_human
C0007222	Cardiovascular Diseases	group	BEFREE;LHGDN
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008350	Cholelithiasis	disease	BEFREE
C0008924	Cleft upper lip	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE;RGD
C0011881	Diabetic Nephropathy	disease	BEFREE;LHGDN
C0011884	Diabetic Retinopathy	disease	BEFREE
C0013080	Down Syndrome	disease	BEFREE
C0013274	Patent ductus arteriosus	disease	HPO
C0015393	Eye Abnormalities	group	BEFREE
C0015695	Fatty Liver	disease	LHGDN
C0017097	Gardner Syndrome	disease	BEFREE
C0018801	Heart failure	disease	CTD_human
C0018802	Congestive heart failure	disease	CTD_human
C0019196	Hepatitis C	disease	BEFREE
C0019569	Hirschsprung Disease	disease	BEFREE
C0019693	HIV Infections	group	BEFREE
C0020459	Hyperinsulinism	disease	BEFREE
C0020541	Hypertension, Portal	disease	BEFREE
C0020557	Hypertriglyceridemia	phenotype	BEFREE;LHGDN
C0020676	Hypothyroidism	disease	LHGDN
C0022658	Kidney Diseases	group	CTD_human
C0023212	Left-Sided Heart Failure	disease	CTD_human
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE;LHGDN
C0023896	Alcoholic Liver Diseases	group	CTD_human
C0023903	Liver neoplasms	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE;CTD_human
C0024667	Animal Mammary Neoplasms	group	CTD_human
C0024668	Mammary Neoplasms, Experimental	group	CTD_human
C0025517	Metabolic Diseases	group	BEFREE
C0026010	Microphthalmos	disease	HPO
C0027540	Necrosis	phenotype	CTD_human
C0028754	Obesity	disease	BEFREE;RGD
C0032460	Polycystic Ovary Syndrome	disease	BEFREE;CTD_human;LHGDN
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0035309	Retinal Diseases	group	BEFREE
C0035334	Retinitis Pigmentosa	disease	BEFREE
C0036220	Kaposi Sarcoma	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE
C0037286	Skin Neoplasms	group	BEFREE
C0038356	Stomach Neoplasms	group	CTD_human
C0042373	Vascular Diseases	group	BEFREE
C0042798	Low Vision	disease	HPO
C0042842	Vitamin A Deficiency	disease	BEFREE;CTD_human
C0085207	Gestational Diabetes	phenotype	LHGDN
C0085281	Addictive Behavior	phenotype	BEFREE
C0152455	Keratomalacia	disease	CTD_human
C0154830	Proliferative diabetic retinopathy	disease	BEFREE
C0205696	Anaplastic carcinoma	disease	CTD_human
C0205697	Carcinoma, Spindle-Cell	disease	CTD_human
C0205698	Undifferentiated carcinoma	phenotype	CTD_human
C0205699	Carcinomatosis	phenotype	CTD_human
C0206245	Amyloid Neuropathies, Familial	group	BEFREE
C0206247	Amyloid Neuropathies	disease	LHGDN
C0221271	Elastosis perforans serpiginosa	disease	BEFREE
C0234632	Reduced visual acuity	phenotype	HPO
C0235272	Retinal damage	phenotype	BEFREE
C0235527	Heart Failure, Right-Sided	disease	CTD_human
C0239946	Fibrosis, Liver	disease	BEFREE
C0240063	Coloboma of iris	phenotype	HPO
C0240896	Fundus coloboma	disease	HPO
C0242339	Dyslipidemias	group	BEFREE
C0268407	Senile cardiac amyloidosis	disease	BEFREE
C0271271	Xerotic keratitis	disease	CTD_human
C0271650	Impaired glucose tolerance	phenotype	BEFREE;LHGDN
C0302592	Cervix carcinoma	disease	BEFREE
C0341439	Chronic liver disease	group	BEFREE
C0341702	Acquired Fanconi syndrome	disease	BEFREE
C0362046	Prediabetes syndrome	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0400966	Non-alcoholic Fatty Liver Disease	disease	BEFREE
C0406481	Comedonal acne	disease	HPO
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0497406	Overweight	phenotype	BEFREE
C0524620	Metabolic Syndrome X	disease	BEFREE
C0524910	Hepatitis C, Chronic	disease	BEFREE;LHGDN
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0746102	Chronic lung disease	group	BEFREE
C0854723	Retinal Dystrophies	group	BEFREE;HPO
C0856151	Fat redistribution	phenotype	BEFREE
C0856727	Cholesterol gallstones	disease	BEFREE
C0856901	Retinol Deficiency	disease	CTD_human
C0878681	Dent's disease	disease	BEFREE
C0947622	Cholecystolithiasis	disease	BEFREE
C0947751	Vascular inflammations	phenotype	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1136382	Sclerocystic Ovaries	disease	CTD_human
C1257925	Mammary Carcinoma, Animal	disease	CTD_human
C1292753	Primary Effusion Lymphoma	disease	BEFREE
C1333177	Lymphoproliferative Disorder of the Skin	disease	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1832661	ANOPHTHALMIA AND PULMONARY HYPOPLASIA	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1861453	Pseudohyperkalemia Cardiff	disease	BEFREE
C1868684	EAR, PATELLA, SHORT STATURE SYNDROME	disease	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE
C1959583	Myocardial Failure	disease	CTD_human
C1961112	Heart Decompensation	phenotype	CTD_human
C2239176	Liver carcinoma	disease	BEFREE
C2711227	Steatohepatitis	disease	BEFREE
C2751492	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	disease	BEFREE
C2931501	Microphthalmia associated with colobomatous cyst	disease	ORPHANET
C2936179	Obesity, Visceral	phenotype	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3241937	Nonalcoholic Steatohepatitis	disease	BEFREE
C3553016	Peripheral retinal atrophy	disease	HPO
C3554593	RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C3665346	Unspecified visual loss	phenotype	BEFREE
C3665347	Visual Impairment	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4225330	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10	disease	CLINVAR;CTD_human;UNIPROT
C4280625	Decreased size of eyeball	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4316870	Abnormality of the eye	phenotype	CLINVAR
C4477027	Comedogenic acne	disease	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0016918	retinal binding	IEA
GO:0019841	retinol binding	IDA
GO:0034632	retinol transmembrane transporter activity	IC
GO:0044877	protein-containing complex binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001523	retinoid metabolic process	TAS
GO:0001654	eye development	ISS
GO:0001654	eye development	IMP
GO:0006094	gluconeogenesis	ISS
GO:0006094	gluconeogenesis	IMP
GO:0007507	heart development	ISS
GO:0007601	visual perception	IEA
GO:0030277	maintenance of gastrointestinal epithelium	IDA
GO:0030324	lung development	ISS
GO:0032024	positive regulation of insulin secretion	IMP
GO:0032526	response to retinoic acid	IDA
GO:0034633	retinol transport	IC
GO:0042572	retinol metabolic process	IMP
GO:0042593	glucose homeostasis	IDA
GO:0045471	response to ethanol	IEA
GO:0048562	embryonic organ morphogenesis	ISS
GO:0048706	embryonic skeletal system development	ISS
GO:0048738	cardiac muscle tissue development	ISS
GO:0048807	female genitalia morphogenesis	ISS
GO:0051024	positive regulation of immunoglobulin secretion	ISS
GO:0060044	negative regulation of cardiac muscle cell proliferation	ISS
GO:0060059	embryonic retina morphogenesis in camera-type eye	ISS
GO:0060065	uterus development	ISS
GO:0060068	vagina development	ISS
GO:0060157	urinary bladder development	ISS
GO:0060347	heart trabecula formation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	ISS
GO:0005615	extracellular space	IDA
GO:0005829	cytosol	TAS
GO:0032991	protein-containing complex	IEA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-2187338	Visual phototransduction	TAS
R-HSA-2453864	Retinoid cycle disease events	TAS
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)	TAS
R-HSA-2474795	Diseases associated with visual transduction	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-418594	G alpha (i) signalling events	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-6806667	Metabolism of fat-soluble vitamins	TAS
R-HSA-6809583	Retinoid metabolism disease events	TAS
R-HSA-975634	Retinoid metabolism and transport	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of RBP4 mRNA	27840820
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of RBP4 mRNA	29038090
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of RBP4 mRNA	28628672
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of RBP4 mRNA	31449830
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of RBP4 protein	31449830
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	NR1I3 protein affects the reaction [2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of RBP4 mRNA]	31449830
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	NR1I3 protein affects the reaction [2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of RBP4 protein]	31449830
C016392	3,3'-diindolylmethane	3,3'-diindolylmethane results in increased expression of RBP4 protein	27092574
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of RBP4 mRNA	23994337
C026308	3,4-dihydrocoumarin	3,4-dihydrocoumarin results in decreased expression of RBP4 mRNA	22016648
C041594	4-nonylphenol	4-nonylphenol results in increased expression of RBP4 mRNA	30619083
D000082	Acetaminophen	Acetaminophen results in decreased expression of RBP4 mRNA	29067470
D000082	Acetaminophen	Acetaminophen results in decreased expression of RBP4 protein	16687475
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of RBP4 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of RBP4 mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of RBP4 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of RBP4 mRNA	16483693
C023650	aniline	aniline results in increased expression of RBP4 mRNA	22016648
C547126	AZM551248	AZM551248 results in increased expression of RBP4 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of RBP4 mRNA	22209252; 26001963;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of RBP4 mRNA	22228805
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of RBP4 mRNA	21839799
D001599	Berberine	Berberine inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D019207	beta Carotene	beta Carotene results in decreased expression of and results in decreased secretion of RBP4 protein	22542753
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in increased expression of RBP4 mRNA	23994337
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone affects the expression of RBP4 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of RBP4 mRNA	26364221
C006780	bisphenol A	bisphenol A affects the expression of RBP4 mRNA	30903817
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in decreased expression of RBP4 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of RBP4 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of RBP4 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of RBP4 mRNA	30619083
C006780	bisphenol A	bisphenol A results in decreased expression of RBP4 mRNA	12075121; 30816183;
C006780	bisphenol A	bisphenol A results in increased expression of RBP4 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of RBP4 mRNA	30951980
C025703	bleomycetin	bleomycetin results in decreased expression of RBP4 mRNA	21040473
C038091	butylparaben	butylparaben results in decreased expression of RBP4 mRNA	29458080
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of RBP4 mRNA	21457566
C034939	cadmium sulfide	[cadmium telluride co-treated with cadmium sulfide] results in increased expression of RBP4 mRNA	20596552
C028337	cadmium telluride	[cadmium telluride co-treated with cadmium sulfide] results in increased expression of RBP4 mRNA	20596552
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of RBP4 mRNA	17484886
D002273	Carcinogens	Carcinogens results in decreased expression of RBP4 mRNA	16316942
D004390	Chlorpyrifos	Chlorpyrifos affects the expression of RBP4 mRNA	26775027
D002762	Cholecalciferol	Cholecalciferol results in increased expression of RBP4 mRNA	17170073
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of RBP4 gene	20938992
C012843	cinnamic aldehyde	cinnamic aldehyde inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D002945	Cisplatin	Cisplatin results in decreased expression of RBP4 mRNA	27392435
D003300	Copper	Copper affects the expression of RBP4 protein	17192175
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of RBP4 mRNA	19549813
C009160	cyclonite	cyclonite results in increased expression of RBP4 mRNA	25559034
D016572	Cyclosporine	Cyclosporine results in decreased expression of RBP4 mRNA	20106945; 25562108;
D000077209	Decitabine	Decitabine results in increased expression of RBP4 mRNA	16367923
D003907	Dexamethasone	Dexamethasone results in increased expression of RBP4 mRNA	19853017; 25047013;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of RBP4 mRNA	28628672
C023614	dibenzofuran	dibenzofuran analog results in increased expression of RBP4 mRNA	20566336
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of RBP4 mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in decreased expression of RBP4 mRNA	18042831; 25016146;
D004041	Dietary Fats	Berberine inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D004041	Dietary Fats	cinnamic aldehyde inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D004041	Dietary Fats	[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein	19080170
D004041	Dietary Fats	Metformin inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D004041	Dietary Fats	Dietary Fats results in increased expression of RBP4 protein	21739664
D004041	Dietary Fats	Resveratrol inhibits the reaction [Dietary Fats results in increased expression of RBP4 protein]	21739664
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of RBP4 protein	31228551
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of RBP4 mRNA	30619083
D004237	Diuron	Diuron results in decreased expression of RBP4 mRNA	25152437
D004317	Doxorubicin	Doxorubicin results in increased expression of RBP4 mRNA	22016648
D004958	Estradiol	Estradiol affects the expression of RBP4 mRNA	14699072
D004958	Estradiol	Estradiol results in increased expression of and results in increased secretion of RBP4 protein	17456573
D004958	Estradiol	Estradiol results in increased expression of RBP4 mRNA	17456573
D004958	Estradiol	Estradiol results in increased expression of RBP4 protein	18191855
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in increased expression of RBP4 mRNA	17404688
D004958	Estradiol	Estradiol results in decreased expression of RBP4 mRNA	19484750
D000431	Ethanol	Ethanol results in decreased expression of RBP4 mRNA	29361514
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of RBP4 mRNA	20227414
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of RBP4 mRNA	17606305
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of RBP4 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of RBP4 mRNA	12075121
C098546	ethyl tert-butyl ether	ethyl tert-butyl ether results in increased expression of RBP4 protein	24090815
D017313	Fenretinide	Fenretinide analog inhibits the reaction [Vitamin A promotes the reaction [RBP4 protein binds to TTR protein]]	21591606
D017313	Fenretinide	Fenretinide binds to RBP4 protein	21591606
D017313	Fenretinide	[Fenretinide binds to RBP4 protein] inhibits the reaction [RBP4 protein binds to TTR protein]	21591606
D017313	Fenretinide	Fenretinide results in decreased expression of RBP4 mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of RBP4 gene	20938992
D004397	Fonofos	Fonofos results in increased methylation of RBP4 promoter	22847954
D019833	Genistein	Genistein results in increased expression of RBP4 mRNA	20884965
D019833	Genistein	Genistein results in decreased expression of RBP4 mRNA	12075121
D005839	Gentamicins	Gentamicins results in increased expression of RBP4 protein	21081137; 22061828;
D005947	Glucose	RBP4 protein results in increased abundance of Glucose	31228551
D006003	Glycogen	RBP4 protein promotes the reaction [mono-(2-ethylhexyl)phthalate inhibits the reaction [INS protein results in increased abundance of Glycogen]]	31228551
C412815	GW 4064	GW 4064 results in increased expression of RBP4 mRNA	26655953
C029424	hydrazine	hydrazine results in increased expression of RBP4 mRNA	15282401
C075954	indolo(3,2-b)carbazole	indolo(3,2-b)carbazole results in increased expression of RBP4 mRNA	23994337
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of RBP4 mRNA	28628672
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of RBP4 mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of RBP4 mRNA	27392435
C098607	JP8 aviation fuel	JP8 aviation fuel results in decreased expression of RBP4 mRNA	15618438
D008687	Metformin	Metformin inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D008694	Methamphetamine	Methamphetamine results in decreased expression of RBP4 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of RBP4 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of RBP4 mRNA	23179753
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of RBP4 mRNA	27544571
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of RBP4 mRNA	16966085
D008770	Methylnitrosourea	Methylnitrosourea results in increased expression of RBP4 mRNA	16525678
C043243	methyl tert-butyl ether	methyl tert-butyl ether affects the expression of RBP4 mRNA	24128854
D015735	Mifepristone	Mifepristone inhibits the reaction [Progesterone results in decreased expression of RBP4 mRNA]	27264040
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of RBP4 protein	31228551
C016599	mono-(2-ethylhexyl)phthalate	RBP4 protein promotes the reaction [mono-(2-ethylhexyl)phthalate inhibits the reaction [INS protein results in increased abundance of Glycogen]]	31228551
C016599	mono-(2-ethylhexyl)phthalate	RBP4 protein promotes the reaction [mono-(2-ethylhexyl)phthalate results in decreased activity of INS protein]	31228551
C016599	mono-(2-ethylhexyl)phthalate	RBP4 protein promotes the reaction [[mono-(2-ethylhexyl)phthalate results in decreased activity of INS protein] which results in decreased phosphorylation of GSK3B protein]	31228551
C016599	mono-(2-ethylhexyl)phthalate	RBP4 protein promotes the reaction [[mono-(2-ethylhexyl)phthalate results in decreased activity of INS protein] which results in decreased phosphorylation of IRS1 protein]	31228551
C016599	mono-(2-ethylhexyl)phthalate	RBP4 protein promotes the reaction [mono-(2-ethylhexyl)phthalate results in decreased phosphorylation of GSK3B protein]	31228551
C016599	mono-(2-ethylhexyl)phthalate	RBP4 protein promotes the reaction [mono-(2-ethylhexyl)phthalate results in decreased phosphorylation of IRS1 protein]	31228551
C016599	mono-(2-ethylhexyl)phthalate	RBP4 protein promotes the reaction [mono-(2-ethylhexyl)phthalate results in decreased phosphorylation of PIK3R1 protein]	31228551
C523799	MRK 003	RBP4 results in decreased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog affects the expression of RBP4 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of RBP4 mRNA	25554681
C007350	nitrofen	nitrofen results in decreased expression of RBP4 protein	22015466
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of RBP4 mRNA	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased methylation of RBP4 promoter	26251327
C025589	ochratoxin A	ochratoxin A results in decreased expression of RBP4 mRNA	16251485
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of RBP4 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of RBP4 mRNA	25729387
D010072	Oxamic Acid	Oxamic Acid analog results in decreased expression of RBP4 mRNA	29458080
D000073878	Palm Oil	Palm Oil results in decreased expression of RBP4 mRNA	18042831
D010278	Parathion	Parathion results in increased methylation of RBP4 promoter	22847954
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of RBP4 mRNA	27181905
C522391	perfluorododecanoic acid	perfluorododecanoic acid results in increased expression of RBP4 protein	26168851
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in decreased expression of RBP4 mRNA	23602845
D010670	Phenylthiourea	Phenylthiourea results in decreased expression of RBP4 mRNA	16929533; 18316031;
D010670	Phenylthiourea	Phenylthiourea results in decreased expression of RBP4 protein	18316031
C006253	pirinixic acid	pirinixic acid results in decreased expression of RBP4 mRNA	20813756
D010936	Plant Extracts	Plant Extracts results in decreased expression of RBP4 mRNA	23557933
D011192	Potassium Dichromate	Potassium Dichromate affects the expression of RBP4 mRNA	23608068
D011374	Progesterone	Progesterone results in increased expression of RBP4 mRNA	23018184
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in increased expression of RBP4 mRNA	17404688
D011374	Progesterone	Progesterone results in increased expression of RBP4 mRNA	17404688
D011374	Progesterone	Mifepristone inhibits the reaction [Progesterone results in decreased expression of RBP4 mRNA]	27264040
D011374	Progesterone	Progesterone results in decreased expression of RBP4 mRNA	27264040
D011374	Progesterone	[Progesterone results in increased activity of PGR protein] which results in decreased expression of RBP4 mRNA	15845616
D011374	Progesterone	Progesterone affects the expression of RBP4 protein	11833939
C006068	propylparaben	propylparaben results in decreased expression of RBP4 mRNA	29458080
D011794	Quercetin	Quercetin results in decreased expression of RBP4 mRNA	21632981
D000077185	Resveratrol	Resveratrol results in decreased expression of RBP4 mRNA	21109418
D000077185	Resveratrol	Resveratrol inhibits the reaction [Dietary Fats results in increased expression of RBP4 protein]	21739664
D000077185	Resveratrol	Resveratrol results in decreased expression of RBP4 protein	21575630
C009166	retinol acetate	retinol acetate results in increased expression of RBP4 protein	31449830
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of RBP4 mRNA	26670611
D012402	Rotenone	Rotenone results in increased expression of RBP4 mRNA	22016648
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of RBP4 mRNA	25895662
D012834	Silver	Silver results in increased expression of RBP4 mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in decreased expression of RBP4 mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in decreased expression of RBP4 mRNA	29301061
C017947	sodium arsenite	sodium arsenite results in increased expression of RBP4 mRNA	31170414
D013311	Streptozocin	Berberine inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D013311	Streptozocin	cinnamic aldehyde inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D013311	Streptozocin	[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein	19080170
D013311	Streptozocin	Metformin inhibits the reaction [[Dietary Fats co-treated with Streptozocin] results in increased secretion of RBP4 protein]	19080170
D012460	Sulfasalazine	Sulfasalazine affects the expression of RBP4 mRNA	22016648
D013629	Tamoxifen	Tamoxifen affects the expression of RBP4 mRNA	17555576
C012568	terbufos	terbufos results in increased methylation of RBP4 promoter	22847954
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of RBP4 mRNA	18976794
C041181	tetrachlorodian	tetrachlorodian results in increased expression of RBP4 mRNA	31326446
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of RBP4 mRNA	16443690; 18495758;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RBP4 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of RBP4 mRNA	23994337
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of RBP4 protein	27105554
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of RBP4 mRNA	15644576
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of RBP4 mRNA	25613284
D013792	Thalidomide	Thalidomide results in decreased expression of RBP4 mRNA	28892372
C009495	titanium dioxide	titanium dioxide affects the expression of RBP4 mRNA	17656681
C009495	titanium dioxide	titanium dioxide results in decreased expression of RBP4 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of RBP4 protein	30291989
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of RBP4 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of RBP4 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of RBP4 mRNA	20530235
D014212	Tretinoin	Tretinoin binds to RBP4 protein	16461020
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in decreased expression of RBP4 mRNA	30951980
C012589	trichostatin A	trichostatin A results in decreased expression of RBP4 mRNA	15901671
D014635	Valproic Acid	Valproic Acid results in decreased expression of RBP4 mRNA	15901671
D014635	Valproic Acid	Valproic Acid affects the expression of RBP4 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of RBP4 mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of RBP4 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of RBP4 mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of RBP4 mRNA	17963808
C025643	vinclozolin	vinclozolin results in increased expression of RBP4 mRNA	23869203
D014801	Vitamin A	Fenretinide analog inhibits the reaction [Vitamin A promotes the reaction [RBP4 protein binds to TTR protein]]	21591606
D014801	Vitamin A	Vitamin A binds to RBP4 protein	16461020; 16762690; 18316031;
D014801	Vitamin A	Vitamin A promotes the reaction [RBP4 protein binds to TTR protein]	21591606
D014801	Vitamin A	Vitamin A results in decreased expression of and results in decreased secretion of RBP4 protein	22542753
D014801	Vitamin A	Vitamin A deficiency results in decreased secretion of RBP4 protein	22001960
D014801	Vitamin A	Vitamin A results in increased secretion of RBP4 protein	22001960

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0488	Methylation
KW-1013	Microphthalmia
KW-1185	Reference proteome
KW-0683	Retinol-binding
KW-0964	Secreted
KW-0716	Sensory transduction
KW-0732	Signal
KW-0813	Transport
KW-0844	Vision
KW-0845	Vitamin A

Interpro

InterPro ID	InterPro Term
IPR012674	Calycin
IPR022271	Lipocalin_ApoD
IPR022272	Lipocalin_CS
IPR000566	Lipocln_cytosolic_FA-bd_dom
IPR002449	Retinol-bd/Purpurin

PROSITE

PROSITE ID	PROSITE Term
PS00213	LIPOCALIN

Pfam

Pfam ID	Pfam Term
PF00061	Lipocalin

Gene: RBP4

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction