RBP4 (retinol binding protein 4) - Rat Genome Database

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Gene: RBP4 (retinol binding protein 4) Homo sapiens
Analyze
Symbol: RBP4
Name: retinol binding protein 4
RGD ID: 735251
HGNC Page HGNC:9922
Description: Enables retinol binding activity. Involved in several processes, including gluconeogenesis; positive regulation of insulin secretion; and retinol metabolic process. Located in extracellular space. Implicated in coronary artery disease and type 2 diabetes mellitus. Biomarker of several diseases, including acute pyelonephritis; artery disease (multiple); colon adenoma; diabetic retinopathy (multiple); and glucose metabolism disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MCOPCB10; plasma retinol-binding protein; PRBP; RBP; RDCCAS; retinol binding protein 4, plasma; retinol-binding protein 4; retinol-binding protein 4, interstitial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,591,694 - 93,601,744 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,591,687 - 93,601,744 (-)EnsemblGRCh38hg38GRCh38
GRCh371095,351,451 - 95,361,501 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,341,583 - 95,350,983 (-)NCBINCBI36Build 36hg18NCBI36
Build 341095,341,583 - 95,350,983NCBI
Celera1089,092,718 - 89,102,118 (-)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1088,979,353 - 88,988,753 (-)NCBIHuRef
CHM1_11095,634,147 - 95,643,547 (-)NCBICHM1_1
T2T-CHM13v2.01094,471,646 - 94,481,695 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Coronary Syndrome  (IEP)
acute pyelonephritis  (IEP)
Alcoholic Liver Diseases  (EXP)
Animal Mammary Neoplasms  (EXP)
Anophthalmia  (IAGP)
anterior segment dysgenesis  (IAGP)
aortic disease  (ISO)
Arteriovenous Fistula  (IEP)
atherosclerosis  (ISO)
Breast Neoplasms  (EXP)
carcinoma  (EXP)
Cardiomegaly  (ISO)
Carotid Atherosclerosis  (IEP)
cerebral infarction  (IEP)
chronic kidney disease  (IEP)
coloboma  (IAGP)
colon adenoma  (IEP)
congestive heart failure  (EXP,IEP)
coronary artery disease  (IAGP,IEP)
Coronary Disease  (IEP)
diabetic angiopathy  (IEP)
Diabetic Nephropathies  (IEP)
diabetic retinopathy  (IEP)
dilated cardiomyopathy  (IEP)
Dyslipidemias  (IEP)
essential hypertension  (IEP)
Experimental Liver Cirrhosis  (ISO)
Experimental Mammary Neoplasms  (EXP,ISO)
Eye Abnormalities  (IAGP)
familial hypercholesterolemia  (IEP)
familial temporal lobe epilepsy 1  (IAGP)
fundus dystrophy  (IAGP)
gallbladder cancer  (IEP)
genetic disease  (IAGP)
gestational diabetes  (IEP)
hyperinsulinism  (IEP)
hypertension  (IEP,ISO)
Hypertriglyceridemia  (IEP)
Insulin Resistance  (IEP,ISO)
Jaundice  (IEP)
keratomalacia  (EXP)
kidney disease  (EXP)
liver cirrhosis  (IEP)
Metabolic Syndrome  (IEP)
microphthalmia  (IAGP)
Microphthalmia/Coloboma 10  (IAGP)
myocardial infarction  (IEP)
Necrosis  (EXP)
obesity  (IEP,ISO)
Pediatric Obesity  (IEP)
polycystic ovary syndrome  (EXP)
pre-eclampsia  (IEP)
Pregnancy-Induced Hypertension  (IEP)
Prehypertension  (IEP)
proliferative diabetic retinopathy  (IEP)
psoriasis  (IEP)
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  (IAGP)
severe pre-eclampsia  (IEP)
Spontaneous Abortions  (EXP)
Stable Angina  (IEP)
Stomach Neoplasms  (EXP)
systemic scleroderma  (IEP)
type 2 diabetes mellitus  (IAGP,IEP)
Vision Disorders  (IAGP)
Vitamin A Deficiency  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dihydrocoumarin  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-phenylprop-2-enal  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP,ISO)
allopurinol  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
Ampullosporin  (ISO)
aniline  (ISO)
benzo[a]pyrene  (EXP,ISO)
berberine  (ISO)
beta-carotene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
bleomycin A5  (EXP)
buta-1,3-diene  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calciol  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chrysin  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibenzofuran  (ISO)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diuron  (ISO)
doxorubicin  (ISO)
folic acid  (ISO)
fonofos  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (EXP)
glycogen  (EXP)
GW 4064  (ISO)
hydrazine  (ISO)
indometacin  (EXP)
isoscutellarein  (ISO)
kaempferol  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
metformin  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
monosodium L-glutamate  (ISO)
N-methyl-N-nitrosourea  (ISO)
nitrofen  (ISO)
norwogonin  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
perfluorododecanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
retinyl acetate  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulfasalazine  (ISO)
tamoxifen  (ISO)
terbufos  (EXP)
tert-butyl ethyl ether  (ISO)
Tetrachlorobisphenol A  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Triptolide  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vinclozolin  (ISO)
wogonin  (ISO)
zinc oxide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Serum levels of retinol-binding protein 4 and risk of colon adenoma. Abola MV, etal., Endocr Relat Cancer. 2015 Apr;22(2):L1-4. doi: 10.1530/ERC-14-0429.
2. Serum retinol binding protein 4 level is related with renal functions in Type 2 diabetes. Akbay E, etal., J Endocrinol Invest. 2010 Nov;33(10):725-9. doi: 10.1007/BF03346678. Epub 2010 Apr 30.
3. Evaluation of irisin, retinol-binding protein 4, and leptin serum levels as biomarkers of macrovascular complications involvement in Saudi type 2 diabetes mellitus. A case-control study. Ali EY, etal., Saudi Med J. 2020 Dec;41(12):1369-1374. doi: 10.15537/smj.2020.12.25461.
4. Signaling by vitamin A and retinol-binding protein in regulation of insulin responses and lipid homeostasis. Berry DC and Noy N, Biochim Biophys Acta. 2012 Jan;1821(1):168-76. Epub 2011 Jul 12.
5. Increased plasma retinol binding protein 4 levels in patients with inflammatory cardiomyopathy. Bobbert P, etal., Eur J Heart Fail. 2009 Dec;11(12):1163-8. doi: 10.1093/eurjhf/hfp153.
6. Retinol-binding protein 4 as a plasma biomarker of renal dysfunction and cardiovascular disease in type 2 diabetes. Cabré A, etal., J Intern Med. 2007 Oct;262(4):496-503. doi: 10.1111/j.1365-2796.2007.01849.x.
7. Elevated serum retinol-binding protein 4 concentrations are associated with renal dysfunction and uric acid in type 2 diabetic patients. Chang YH, etal., Diabetes Metab Res Rev. 2008 Nov-Dec;24(8):629-34. doi: 10.1002/dmrr.894.
8. Increased levels of retinol binding protein 4 in patients with advanced heart failure correct after hemodynamic improvement through ventricular assist device placement. Chavarria N, etal., Circ J. 2012;76(9):2148-52. doi: 10.1253/circj.cj-12-0350. Epub 2012 Jun 12.
9. Serum retinol binding protein 4 and clinical outcome in postoperative biliary atresia. Chayanupatkul M, etal., Hepatol Int. 2011 Dec;5(4):906-12. doi: 10.1007/s12072-011-9262-2. Epub 2011 Mar 6.
10. Associations of metabolic factors, especially serum retinol-binding protein 4 (RBP4), with blood pressure in Japanese--the Tanno and Sobetsu study. Chiba M, etal., Endocr J. 2010;57(9):811-7. doi: 10.1507/endocrj.k10e-054. Epub 2010 Aug 24.
11. Elevated serum retinol-binding protein 4 concentrations are associated with chronic kidney disease but not with the higher carotid intima-media thickness in type 2 diabetic subjects. Chu CH, etal., Endocr J. 2011;58(10):841-7. doi: 10.1507/endocrj.ej11-0028. Epub 2011 Aug 4.
12. Retinol binding protein 4 as a candidate gene for type 2 diabetes and prediabetic intermediate traits. Craig RL, etal., Mol Genet Metab. 2007 Mar;90(3):338-44. Epub 2006 Dec 14.
13. Retinol-binding protein 4 levels and susceptibility to ischaemic events in men. Cubedo J, etal., Eur J Clin Invest. 2014;44(3):266-75. doi: 10.1111/eci.12229. Epub 2014 Jan 11.
14. [Serum levels of retinol-binding protein-4 and its association with metabolic syndrome in first-degree relatives of type 2 diabetes mellitus]. Gao S, etal., Zhonghua Yi Xue Za Zhi. 2009 Aug 11;89(30):2129-33.
15. Leptin, adiponectin, visfatin and retinol-binding protein-4 - mediators of comorbidities in patients with psoriasis? Gerdes S, etal., Exp Dermatol. 2012 Jan;21(1):43-7. doi: 10.1111/j.1600-0625.2011.01402.x.
16. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
17. Circulating retinol-binding protein 4, cardiovascular risk factors and prevalent cardiovascular disease in elderly. Ingelsson E, etal., Atherosclerosis. 2009 Sep;206(1):239-44. doi: 10.1016/j.atherosclerosis.2009.02.029. Epub 2009 Mar 11.
18. Elevated level of serum retinol-binding protein 4 in pregnancy-induced hypertension. Inoue S, etal., J Obstet Gynaecol Res. 2009 Apr;35(2):293-300. doi: 10.1111/j.1447-0756.2008.00950.x.
19. The relationship of novel adipokines, RBP4 and omentin-1, with carotid atherosclerosis severity and vulnerability. Kadoglou NP, etal., Atherosclerosis. 2014 Aug;235(2):606-12. doi: 10.1016/j.atherosclerosis.2014.05.957. Epub 2014 Jun 8.
20. Novel role for retinol-binding protein 4 in the regulation of blood pressure. Kraus BJ, etal., FASEB J. 2015 Aug;29(8):3133-40. doi: 10.1096/fj.14-266064. Epub 2015 Apr 24.
21. Association of retinol binding protein 4 and transthyretin with triglyceride levels and insulin resistance in rural thais with high type 2 diabetes risk. Kwanbunjan K, etal., BMC Endocr Disord. 2018 May 10;18(1):26. doi: 10.1186/s12902-018-0254-2.
22. Serum levels of retinol-binding protein-4 are associated with the presence and severity of coronary artery disease. Lambadiari V, etal., Cardiovasc Diabetol. 2014 Aug 21;13:121. doi: 10.1186/s12933-014-0121-z.
23. Association of serum retinol binding protein 4 and insulin resistance in apparently healthy adolescents. Lee DC, etal., Metabolism. 2007 Mar;56(3):327-31. doi: 10.1016/j.metabol.2006.10.011.
24. Retinol-binding protein 4 as a novel risk factor for cardiovascular disease in patients with coronary artery disease and hyperinsulinemia. Li F, etal., Am J Med Sci. 2014 Dec;348(6):474-9. doi: 10.1097/MAJ.0000000000000347.
25. Elevated RBP4 plasma levels were associated with diabetic retinopathy in type 2 diabetes. Li JY, etal., Biosci Rep. 2018 Sep 12;38(5):BSR20181100. doi: 10.1042/BSR20181100. Print 2018 Oct 31.
26. Retinol-binding protein 4 is closely correlated to blood pressure level and E/A in untreated essential hypertension patients. Li X, etal., Ann Palliat Med. 2019 Nov;8(5):645-650. doi: 10.21037/apm.2019.11.07.
27. Serum retinol-binding protein 4 levels in patients with diabetic retinopathy. Li ZZ, etal., J Int Med Res. 2010 Jan-Feb;38(1):95-9. doi: 10.1177/147323001003800111.
28. Retinol-Binding Protein 4 Predicts Lesion Volume (Determined by MRI) and Severity of Acute Ischemic Stroke. Liu C and Che Y, Neurotox Res. 2019 Jan;35(1):92-99. doi: 10.1007/s12640-018-9933-z. Epub 2018 Jul 20.
29. Circulating retinol binding protein 4 is associated with coronary lesion severity of patients with coronary artery disease. Liu Y, etal., Atherosclerosis. 2015 Jan;238(1):45-51. doi: 10.1016/j.atherosclerosis.2014.11.016. Epub 2014 Nov 20.
30. Retinol-Binding Protein-Dependent Cholesterol Uptake Regulates Macrophage Foam Cell Formation and Promotes Atherosclerosis. Liu Y, etal., Circulation. 2017 Apr 4;135(14):1339-1354. doi: 10.1161/CIRCULATIONAHA.116.024503. Epub 2017 Jan 25.
31. Serum markers of pre-eclampsia identified on proteomics. Lu Q, etal., J Obstet Gynaecol Res. 2016 Sep;42(9):1111-8. doi: 10.1111/jog.13037. Epub 2016 Jun 8.
32. Visceral obesity is associated with the metabolic syndrome and elevated plasma retinol binding protein-4 level in obstructive sleep apnea syndrome. Makino S, etal., Horm Metab Res. 2009 Mar;41(3):221-6. doi: 10.1055/s-0028-1100411. Epub 2008 Nov 10.
33. Retinol-binding protein 4 and prediction of incident coronary events in healthy men and women. Mallat Z, etal., J Clin Endocrinol Metab. 2009 Jan;94(1):255-60. doi: 10.1210/jc.2008-0253. Epub 2008 Oct 14.
34. Retinol-binding protein 4 and insulin resistance in preeclampsia. Masuyama H, etal., Endocr J. 2011;58(1):47-53. doi: 10.1507/endocrj.k10e-288. Epub 2010 Dec 14.
35. Retinol-binding protein 4 and nicotinamide phosphoribosyltransferase/visfatin in rat obesity models. Mercader J, etal., Horm Metab Res. 2008 Jul;40(7):467-72. Epub 2008 Mar 27.
36. Retinol-binding protein 4 : a possible role in cardiovascular complications. Mohapatra J, etal., Br J Pharmacol. 2011 Dec;164(8):1939-48. doi: 10.1111/j.1476-5381.2011.01492.x.
37. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
38. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
39. Elevated retinol binding protein 4 contributes to insulin resistance in spontaneously hypertensive rats. Ou HY, etal., Horm Metab Res. 2011 May;43(5):312-8. doi: 10.1055/s-0031-1271746. Epub 2011 Mar 1.
40. Microalbuminuria is a major determinant of elevated plasma retinol-binding protein 4 in type 2 diabetic patients. Raila J, etal., Kidney Int. 2007 Aug;72(4):505-11. doi: 10.1038/sj.ki.5002372. Epub 2007 Jun 13.
41. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
42. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
43. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
44. Coronary artery disease is associated with higher epicardial retinol-binding protein 4 (RBP4) and lower glucose transporter (GLUT) 4 levels in epicardial and subcutaneous adipose tissue. Salgado-Somoza A, etal., Clin Endocrinol (Oxf). 2012 Jan;76(1):51-8. doi: 10.1111/j.1365-2265.2011.04140.x.
45. Association between retinol binding protein 4 with atherosclerotic markers in obese children. Santanam N, etal., Minerva Endocrinol. 2016 Sep;41(3):291-7. Epub 2014 Oct 30.
46. Elevation of plasma retinol-binding protein 4 and reduction of plasma adiponectin in subjects with cerebral infarction. Sasaki M, etal., Metabolism. 2010 Apr;59(4):527-32. doi: 10.1016/j.metabol.2009.08.015. Epub 2009 Oct 20.
47. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Seeliger MW, etal., Invest Ophthalmol Vis Sci. 1999 Jan;40(1):3-11.
48. Retinol-binding protein-4 is decreased in patients with preeclampsia in comparison with normal pregnant women. Seol HJ, etal., J Perinat Med. 2011 May;39(3):287-9. doi: 10.1515/jpm.2011.016. Epub 2011 Feb 7.
49. Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. Shan L, etal., Toxicol Pathol. 2005;33(7):768-75.
50. Alterations in serum adipocyte fatty acid binding protein and retinol binding protein-4 in normal pregnancy and preeclampsia. Shangguan X, etal., Clin Chim Acta. 2009 Sep;407(1-2):58-61. doi: 10.1016/j.cca.2009.06.031. Epub 2009 Jun 29.
51. The inverse association between fasting blood glucose and the occurrence of gallbladder cancer in type 2 diabetes mellitus patients: a case-control study. Sheng BW, etal., J Cancer Res Clin Oncol. 2023 Jun 5. doi: 10.1007/s00432-023-04944-3.
52. The correlation of retinol-binding protein-4 and lipoprotein combine index with the prevalence and diagnosis of acute coronary syndrome. Si Y, etal., Heart Vessels. 2020 Nov;35(11):1494-1501. doi: 10.1007/s00380-020-01627-8. Epub 2020 May 24.
53. Retinol-binding protein-4 in women with untreated essential hypertension. Solini A, etal., Am J Hypertens. 2009 Sep;22(9):1001-6. doi: 10.1038/ajh.2009.116. Epub 2009 Jun 25.
54. Serum retinol-binding protein 4 is associated with the presence and severity of coronary artery disease in patients with subclinical hypothyroidism. Sun HX, etal., Aging (Albany NY). 2019 Jul 6;11(13):4510-4520. doi: 10.18632/aging.102065.
55. Elevated plasma retinol-binding protein 4 is associated with increased risk of type 2 diabetes in middle-aged and elderly Chinese adults. Sun L, etal., J Nutr. 2014 May;144(5):722-8. doi: 10.3945/jn.113.189860. Epub 2014 Mar 19.
56. Plasma retinol-binding protein 4 (RBP4) levels and risk of coronary heart disease: a prospective analysis among women in the nurses' health study. Sun Q, etal., Circulation. 2013 May 14;127(19):1938-47. doi: 10.1161/CIRCULATIONAHA.113.002073. Epub 2013 Apr 12.
57. Clinical significance of serum retinol binding protein-4 levels in patients with systemic sclerosis. Toyama T, etal., J Eur Acad Dermatol Venereol. 2013 Mar;27(3):337-44. doi: 10.1111/j.1468-3083.2011.04413.x. Epub 2011 Dec 26.
58. Maternal plasma retinol binding protein 4 in acute pyelonephritis during pregnancy. Vaisbuch E, etal., J Perinat Med. 2010 Jul;38(4):359-66. doi: 10.1515/jpm.2010.066.
59. Relationship of ANGPTL6 With Neonatal Glucose Homeostasis and Fat Mass Is Disrupted in Gestational Diabetic Pregnancies. Valencia-Martínez A, etal., J Clin Endocrinol Metab. 2022 Sep 28;107(10):e4078-e4085. doi: 10.1210/clinem/dgac414.
60. An RBP4 promoter polymorphism increases risk of type 2 diabetes. van Hoek M, etal., Diabetologia. 2008 Aug;51(8):1423-8. doi: 10.1007/s00125-008-1042-8. Epub 2008 May 22.
61. A genetic polymorphism in RBP4 is associated with coronary artery disease. Wan K, etal., Int J Mol Sci. 2014 Dec 3;15(12):22309-19. doi: 10.3390/ijms151222309.
62. Retinol-binding protein 4 regulates the biological functions and molecular mechanisms of JEG-3 cells. Wang F, etal.
63. Retinol binding protein 4 induces mitochondrial dysfunction and vascular oxidative damage. Wang J, etal., Atherosclerosis. 2015 Jun;240(2):335-44. doi: 10.1016/j.atherosclerosis.2015.03.036. Epub 2015 Mar 28.
64. Association among retinol-binding protein 4, small dense LDL cholesterol and oxidized LDL levels in dyslipidemia subjects. Wu J, etal., Clin Biochem. 2012 Jun;45(9):619-22. doi: 10.1016/j.clinbiochem.2012.02.022. Epub 2012 Mar 8.
65. Association of Retinol-Binding Protein 4 with Arteriovenous Fistula Dysfunction in Hemodialysis Patients. Wu Y, etal., Blood Purif. 2021;50(6):906-913. doi: 10.1159/000513418. Epub 2021 Feb 8.
66. Retinol-binding protein 4 is associated with impaired glucose regulation and microalbuminuria in a Chinese population. Xu M, etal., Diabetologia. 2009 Aug;52(8):1511-9. Epub 2009 Jun 9.
67. Insulin resistance in liver cirrhosis is not associated with circulating retinol-binding protein 4. Yagmur E, etal., Diabetes Care. 2007 May;30(5):1168-72. doi: 10.2337/dc06-2323. Epub 2007 Mar 2.
68. Elevated serum retinol-binding protein 4 levels are correlated with blood pressure in prehypertensive Chinese. Zhang JX, etal., J Hum Hypertens. 2017 Oct;31(10):611-615. doi: 10.1038/jhh.2017.44. Epub 2017 Jun 22.
69. Elevated retinol binding protein 4 levels are associated with atherosclerosis in diabetic rats via JAK2/STAT3 signaling pathway. Zhou W, etal., World J Diabetes. 2021 Apr 15;12(4):466-479. doi: 10.4239/wjd.v12.i4.466.
70. Evaluation of serum retinol-binding protein-4 levels as a biomarker of poor short-term prognosis in ischemic stroke. Zhu YY, etal., Biosci Rep. 2018 Sep 12;38(5):BSR20180786. doi: 10.1042/BSR20180786. Print 2018 Oct 31.
Additional References at PubMed
PMID:571335   PMID:573217   PMID:574085   PMID:986177   PMID:1623143   PMID:2217163   PMID:2444024   PMID:2928844   PMID:2998779   PMID:3013795   PMID:3525470   PMID:3559267  
PMID:5132677   PMID:6316270   PMID:6540172   PMID:6942701   PMID:7666002   PMID:8089102   PMID:10052934   PMID:10232633   PMID:10944490   PMID:11058747   PMID:11080066   PMID:11853533  
PMID:12228058   PMID:12237133   PMID:12477932   PMID:12593674   PMID:12716133   PMID:14718574   PMID:15009723   PMID:15164054   PMID:15489334   PMID:15649951   PMID:16034410   PMID:16156801  
PMID:16385451   PMID:17003346   PMID:17006670   PMID:17065684   PMID:17164313   PMID:17259477   PMID:17299074   PMID:17405846   PMID:17456573   PMID:17526940   PMID:17550959   PMID:17575262  
PMID:17595259   PMID:17618858   PMID:17630267   PMID:17639305   PMID:17661007   PMID:17686833   PMID:17728376   PMID:17890490   PMID:17904683   PMID:17957146   PMID:18029348   PMID:18052678  
PMID:18081728   PMID:18199128   PMID:18239568   PMID:18316031   PMID:18381580   PMID:18390799   PMID:18397979   PMID:18426814   PMID:18426837   PMID:18426863   PMID:18437353   PMID:18445670  
PMID:18466349   PMID:18492757   PMID:18493106   PMID:18506842   PMID:18588869   PMID:18624398   PMID:18641048   PMID:18710473   PMID:18719670   PMID:18752671   PMID:18782570   PMID:18783798  
PMID:18796616   PMID:18838136   PMID:18852328   PMID:18937078   PMID:18977339   PMID:18980783   PMID:19021760   PMID:19023195   PMID:19046959   PMID:19053019   PMID:19056867   PMID:19088257  
PMID:19114616   PMID:19122345   PMID:19147488   PMID:19155083   PMID:19158194   PMID:19169049   PMID:19190263   PMID:19195734   PMID:19217438   PMID:19224430   PMID:19287041   PMID:19288010  
PMID:19303000   PMID:19346786   PMID:19369430   PMID:19403191   PMID:19501859   PMID:19501863   PMID:19525859   PMID:19537932   PMID:19589139   PMID:19671994   PMID:19708829   PMID:19709697  
PMID:19765959   PMID:19766271   PMID:19794289   PMID:19820404   PMID:19851303   PMID:19857477   PMID:19875582   PMID:19893506   PMID:19897788   PMID:19900011   PMID:19949653   PMID:20097162  
PMID:20146659   PMID:20224248   PMID:20376890   PMID:20389103   PMID:20503483   PMID:20610143   PMID:20625434   PMID:20646597   PMID:20819415   PMID:20849357   PMID:20929509   PMID:20932285  
PMID:20950077   PMID:21039728   PMID:21085476   PMID:21104585   PMID:21106915   PMID:21164503   PMID:21176857   PMID:21223811   PMID:21383997   PMID:21406189   PMID:21458418   PMID:21600576  
PMID:21609194   PMID:21617096   PMID:21655067   PMID:21741059   PMID:21777382   PMID:21821833   PMID:21835764   PMID:21873635   PMID:21878437   PMID:21886308   PMID:21939650   PMID:22020625  
PMID:22023042   PMID:22068556   PMID:22086013   PMID:22205567   PMID:22253430   PMID:22308028   PMID:22308842   PMID:22397743   PMID:22491740   PMID:22685600   PMID:22800884   PMID:22826435  
PMID:22855337   PMID:22863748   PMID:22878527   PMID:22971483   PMID:23020231   PMID:23071093   PMID:23073835   PMID:23074124   PMID:23087360   PMID:23105095   PMID:23119072   PMID:23129325  
PMID:23145084   PMID:23153527   PMID:23189188   PMID:23241634   PMID:23242471   PMID:23350588   PMID:23376485   PMID:23418565   PMID:23420326   PMID:23460908   PMID:23480783   PMID:23533145  
PMID:23571154   PMID:23708710   PMID:23734806   PMID:23764679   PMID:23799122   PMID:23979787   PMID:24011638   PMID:24044566   PMID:24160775   PMID:24367155   PMID:24397358   PMID:24532832  
PMID:24593134   PMID:24606904   PMID:24651174   PMID:24665145   PMID:24784414   PMID:24800810   PMID:25069671   PMID:25227411   PMID:25250314   PMID:25299197   PMID:25450816   PMID:25633269  
PMID:25701600   PMID:25703255   PMID:25810022   PMID:25910211   PMID:25941915   PMID:26055327   PMID:26069091   PMID:26178727   PMID:26286643   PMID:26425827   PMID:26440092   PMID:26526443  
PMID:26575118   PMID:26611784   PMID:26619134   PMID:26667887   PMID:26731992   PMID:26792617   PMID:26794633   PMID:26868132   PMID:26927700   PMID:26960804   PMID:26962819   PMID:26975349  
PMID:27086684   PMID:27277845   PMID:27609367   PMID:27740519   PMID:27892788   PMID:28134916   PMID:28332619   PMID:28336726   PMID:28338737   PMID:28400700   PMID:28473187   PMID:28514442  
PMID:28588245   PMID:28625041   PMID:28648555   PMID:28668878   PMID:28689994   PMID:28704853   PMID:28849085   PMID:28888344   PMID:28931435   PMID:29120147   PMID:29122953   PMID:29333450  
PMID:29414511   PMID:29428584   PMID:29524177   PMID:29618920   PMID:29642915   PMID:29678848   PMID:29679552   PMID:29759068   PMID:29786448   PMID:29997244   PMID:30015949   PMID:30025358  
PMID:30126844   PMID:30215202   PMID:30342852   PMID:30428456   PMID:30497399   PMID:30562901   PMID:30773418   PMID:30805369   PMID:31078721   PMID:31115584   PMID:31186297   PMID:31588816  
PMID:31785592   PMID:31868199   PMID:31885153   PMID:31927097   PMID:31965727   PMID:31999339   PMID:32095874   PMID:32167208   PMID:32265192   PMID:32405713   PMID:32451658   PMID:32559505  
PMID:32564394   PMID:32718041   PMID:33135589   PMID:33198782   PMID:33214151   PMID:33222545   PMID:33284085   PMID:33484089   PMID:33484131   PMID:33957191   PMID:33961781   PMID:34023339  
PMID:34072419   PMID:34177800   PMID:34374069   PMID:34431270   PMID:34446012   PMID:34537998   PMID:34758835   PMID:34809546   PMID:34889069   PMID:35108705   PMID:35216318   PMID:35631143  
PMID:35634496   PMID:35656886   PMID:35818817   PMID:35914814   PMID:35932904   PMID:35944360   PMID:35964702   PMID:36373560   PMID:36632438   PMID:36670387   PMID:36987736   PMID:37100600  
PMID:37512089   PMID:37586836   PMID:37587250   PMID:37858746   PMID:38171813   PMID:38520616   PMID:38671384   PMID:39499777  


Genomics

Comparative Map Data
RBP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,591,694 - 93,601,744 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,591,687 - 93,601,744 (-)EnsemblGRCh38hg38GRCh38
GRCh371095,351,451 - 95,361,501 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,341,583 - 95,350,983 (-)NCBINCBI36Build 36hg18NCBI36
Build 341095,341,583 - 95,350,983NCBI
Celera1089,092,718 - 89,102,118 (-)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1088,979,353 - 88,988,753 (-)NCBIHuRef
CHM1_11095,634,147 - 95,643,547 (-)NCBICHM1_1
T2T-CHM13v2.01094,471,646 - 94,481,695 (-)NCBIT2T-CHM13v2.0
Rbp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391938,105,068 - 38,113,769 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1938,105,077 - 38,113,729 (-)EnsemblGRCm39 Ensembl
GRCm381938,116,620 - 38,125,321 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1938,116,629 - 38,125,281 (-)EnsemblGRCm38mm10GRCm38
MGSCv371938,191,110 - 38,199,811 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361938,181,773 - 38,190,392 (-)NCBIMGSCv36mm8
Celera1938,908,311 - 38,919,212 (-)NCBICelera
Cytogenetic Map19C2NCBI
cM Map1932.75NCBI
Rbp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81245,306,349 - 245,313,551 (-)NCBIGRCr8
mRatBN7.21235,893,917 - 235,901,315 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1235,893,917 - 235,901,399 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1244,315,318 - 244,322,517 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01251,211,097 - 251,218,299 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01244,049,331 - 244,056,533 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01256,806,476 - 256,813,678 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1256,806,472 - 256,813,711 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01264,286,998 - 264,294,396 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,443,795 - 242,450,997 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,637,193 - 242,644,147 (-)NCBI
Celera1232,987,269 - 232,994,470 (-)NCBICelera
RH 3.4 Map11581.5RGD
Cytogenetic Map1q53NCBI
Rbp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955507108,669 - 120,584 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955507112,342 - 120,050 (-)NCBIChiLan1.0ChiLan1.0
RBP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28105,629,725 - 105,639,359 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110105,635,040 - 105,644,675 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01090,337,879 - 90,347,530 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11093,848,166 - 93,857,679 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1093,848,166 - 93,857,887 (-)Ensemblpanpan1.1panPan2
RBP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1287,822,936 - 7,830,735 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl287,822,944 - 7,830,750 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha287,999,367 - 8,007,133 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0288,083,216 - 8,090,965 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl288,083,226 - 8,090,980 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1287,802,939 - 7,810,708 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0287,832,158 - 7,839,906 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0288,002,083 - 8,009,832 (-)NCBIUU_Cfam_GSD_1.0
Rbp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721339,768,612 - 39,777,592 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366011,402,691 - 1,410,208 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366011,401,215 - 1,410,195 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14105,037,464 - 105,044,765 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114105,037,360 - 105,044,552 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214114,769,053 - 114,775,781 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RBP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1986,831,042 - 86,840,668 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl986,830,957 - 86,840,250 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604847,606,135 - 47,615,805 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247374,791,628 - 4,800,989 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247374,795,054 - 4,800,830 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBP4
164 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006744.4(RBP4):c.176T>A (p.Ile59Asn) single nucleotide variant Progressive retinal dystrophy due to retinol transport defect [RCV000013942]|not provided [RCV001222967] Chr10:93600739 [GRCh38]
Chr10:95360496 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic|uncertain significance
NM_006744.4(RBP4):c.278G>A (p.Gly93Asp) single nucleotide variant Progressive retinal dystrophy due to retinol transport defect [RCV000013943] Chr10:93600470 [GRCh38]
Chr10:95360227 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_006744.4(RBP4):c.111+1G>A single nucleotide variant Progressive retinal dystrophy due to retinol transport defect [RCV000034322] Chr10:93600917 [GRCh38]
Chr10:95360674 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) single nucleotide variant Inborn genetic diseases [RCV000623312]|Microphthalmia, isolated, with coloboma 10 [RCV000173002] Chr10:93600692 [GRCh38]
Chr10:95360449 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) single nucleotide variant Bilateral microphthalmos [RCV003323299]|Microphthalmia, isolated, with coloboma 10 [RCV000173003] Chr10:93600698 [GRCh38]
Chr10:95360455 [GRCh37]
Chr10:10q23.33		 pathogenic
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2		 pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1		 pathogenic
NM_006744.4(RBP4):c.17C>T (p.Ala6Val) single nucleotide variant not provided [RCV000175830] Chr10:93601012 [GRCh38]
Chr10:95360769 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.43A>G (p.Ser15Gly) single nucleotide variant not provided [RCV000303109] Chr10:93600986 [GRCh38]
Chr10:95360743 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.544C>A (p.Gln182Lys) single nucleotide variant Inborn genetic diseases [RCV002518092]|not provided [RCV000289013] Chr10:93593847 [GRCh38]
Chr10:95353604 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.569-1G>A single nucleotide variant Microphthalmia, isolated, with coloboma 10 [RCV001270675] Chr10:93592113 [GRCh38]
Chr10:95351870 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.353G>A (p.Gly118Glu) single nucleotide variant not provided [RCV000585464] Chr10:93600395 [GRCh38]
Chr10:95360152 [GRCh37]
Chr10:10q23.33		 likely pathogenic
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 copy number loss See cases [RCV000447362] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
NM_006744.4(RBP4):c.248+1G>A single nucleotide variant Abnormality of the eye [RCV000504682] Chr10:93600666 [GRCh38]
Chr10:95360423 [GRCh37]
Chr10:10q23.33		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 copy number loss See cases [RCV000511278] Chr10:93186527..95820286 [GRCh37]
Chr10:10q23.32-23.33		 pathogenic
NM_006744.4(RBP4):c.24G>T (p.Leu8Phe) single nucleotide variant Retinal dystrophy [RCV004817801]|not provided [RCV000596945] Chr10:93601005 [GRCh38]
Chr10:95360762 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn) single nucleotide variant Congenital ocular coloboma [RCV000608678]|Unilateral microphthalmos [RCV003323300] Chr10:93593997 [GRCh38]
Chr10:95353754 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) copy number loss not provided [RCV000767566] Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1		 likely pathogenic
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2		 pathogenic
GRCh37/hg19 10q23.33(chr10:95301338-95475336)x1 copy number loss not provided [RCV000683199] Chr10:95301338..95475336 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_006744.4(RBP4):c.248+44T>C single nucleotide variant not provided [RCV001681277] Chr10:93600623 [GRCh38]
Chr10:95360380 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.355+41G>C single nucleotide variant not provided [RCV001648732] Chr10:93600352 [GRCh38]
Chr10:95360109 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.333A>G (p.Val111=) single nucleotide variant not provided [RCV000907077] Chr10:93600415 [GRCh38]
Chr10:95360172 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.33(chr10:95234481-95431148)x1 copy number loss not provided [RCV001006347] Chr10:95234481..95431148 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.399_400delinsTT (p.Val134Leu) indel not provided [RCV001240451] Chr10:93593991..93593992 [GRCh38]
Chr10:95353748..95353749 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.369G>T (p.Trp123Cys) single nucleotide variant not provided [RCV001227456] Chr10:93594022 [GRCh38]
Chr10:95353779 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.302C>A (p.Pro101His) single nucleotide variant not provided [RCV001241578] Chr10:93600446 [GRCh38]
Chr10:95360203 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.356-25G>C single nucleotide variant Microphthalmia, isolated, with coloboma 10 [RCV001796703]|Progressive retinal dystrophy due to retinol transport defect [RCV001796702]|not provided [RCV001690340] Chr10:93594060 [GRCh38]
Chr10:95353817 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.248+28C>G single nucleotide variant not provided [RCV001659241] Chr10:93600639 [GRCh38]
Chr10:95360396 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.355+212G>A single nucleotide variant not provided [RCV001674268] Chr10:93600181 [GRCh38]
Chr10:95359938 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.568+67C>T single nucleotide variant not provided [RCV001696403] Chr10:93593756 [GRCh38]
Chr10:95353513 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.408C>T (p.Tyr136=) single nucleotide variant not provided [RCV000922387] Chr10:93593983 [GRCh38]
Chr10:95353740 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.392C>A (p.Thr131Lys) single nucleotide variant not provided [RCV001212659] Chr10:93593999 [GRCh38]
Chr10:95353756 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.373G>A (p.Val125Ile) single nucleotide variant not provided [RCV001223483] Chr10:93594018 [GRCh38]
Chr10:95353775 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.528G>T (p.Glu176Asp) single nucleotide variant Inborn genetic diseases [RCV004033917]|not provided [RCV001213895] Chr10:93593863 [GRCh38]
Chr10:95353620 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.109C>G (p.Arg37Gly) single nucleotide variant Progressive retinal dystrophy due to retinol transport defect [RCV001197953]|Retinal dystrophy [RCV004813843]|not provided [RCV001859199] Chr10:93600920 [GRCh38]
Chr10:95360677 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.38_56del (p.Leu13fs) deletion Retinal dystrophy [RCV004814530] Chr10:93600973..93600991 [GRCh38]
Chr10:95360730..95360748 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.441T>G (p.Cys147Trp) single nucleotide variant not provided [RCV001558503] Chr10:93593950 [GRCh38]
Chr10:95353707 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.568+92G>A single nucleotide variant not provided [RCV001656458] Chr10:93593731 [GRCh38]
Chr10:95353488 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.-55T>G single nucleotide variant not provided [RCV001659664] Chr10:93601207 [GRCh38]
Chr10:95360964 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.111+25G>A single nucleotide variant not provided [RCV001716652] Chr10:93600893 [GRCh38]
Chr10:95360650 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.-18-44_-18-43insCC insertion not provided [RCV001694637] Chr10:93601089..93601090 [GRCh38]
Chr10:95360846..95360847 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.112-44G>C single nucleotide variant not provided [RCV001694498] Chr10:93600847 [GRCh38]
Chr10:95360604 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.355+182C>G single nucleotide variant not provided [RCV001684542] Chr10:93600211 [GRCh38]
Chr10:95359968 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.355+91G>A single nucleotide variant not provided [RCV001610256] Chr10:93600302 [GRCh38]
Chr10:95360059 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.505A>G (p.Ile169Val) single nucleotide variant Inborn genetic diseases [RCV002561159]|not provided [RCV001204540] Chr10:93593886 [GRCh38]
Chr10:95353643 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.355+123T>G single nucleotide variant Progressive retinal dystrophy due to retinol transport defect [RCV001197955]|not provided [RCV001615140] Chr10:93600270 [GRCh38]
Chr10:95360027 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.238C>T (p.Arg80Cys) single nucleotide variant not provided [RCV001045660] Chr10:93600677 [GRCh38]
Chr10:95360434 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.129C>G (p.Tyr43Ter) single nucleotide variant not provided [RCV001235675] Chr10:93600786 [GRCh38]
Chr10:95360543 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_006744.4(RBP4):c.111C>T (p.Arg37=) single nucleotide variant not provided [RCV001038500] Chr10:93600918 [GRCh38]
Chr10:95360675 [GRCh37]
Chr10:10q23.33		 uncertain significance
NC_000010.11:g.(?_93161309)_(93797823_?)del deletion Autosomal dominant epilepsy with auditory features [RCV001862461]|Epilepsy, familial temporal lobe, 1 [RCV001033707] Chr10:94921066..95557580 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_006744.4(RBP4):c.566A>G (p.Asn189Ser) single nucleotide variant Inborn genetic diseases [RCV004031243]|not provided [RCV001041280] Chr10:93593825 [GRCh38]
Chr10:95353582 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.526G>T (p.Glu176Ter) single nucleotide variant Progressive retinal dystrophy due to retinol transport defect [RCV001254111]|Retinal dystrophy [RCV004814032] Chr10:93593865 [GRCh38]
Chr10:95353622 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_006744.4(RBP4):c.559G>A (p.Val187Ile) single nucleotide variant not provided [RCV001312163] Chr10:93593832 [GRCh38]
Chr10:95353589 [GRCh37]
Chr10:10q23.33		 likely benign|conflicting interpretations of pathogenicity
NM_006744.4(RBP4):c.388G>A (p.Asp130Asn) single nucleotide variant not provided [RCV001298751] Chr10:93594003 [GRCh38]
Chr10:95353760 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.111+5G>T single nucleotide variant not provided [RCV001298764] Chr10:93600913 [GRCh38]
Chr10:95360670 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.122C>T (p.Thr41Ile) single nucleotide variant not provided [RCV001324891] Chr10:93600793 [GRCh38]
Chr10:95360550 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.480C>T (p.Asn160=) single nucleotide variant not provided [RCV001432992] Chr10:93593911 [GRCh38]
Chr10:95353668 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.44G>A (p.Ser15Asn) single nucleotide variant not provided [RCV001322736] Chr10:93600985 [GRCh38]
Chr10:95360742 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.517C>T (p.Arg173Trp) single nucleotide variant not provided [RCV001327510] Chr10:93593874 [GRCh38]
Chr10:95353631 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.563A>G (p.His188Arg) single nucleotide variant not provided [RCV001319514] Chr10:93593828 [GRCh38]
Chr10:95353585 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.293C>A (p.Thr98Asn) single nucleotide variant not provided [RCV001347970] Chr10:93600455 [GRCh38]
Chr10:95360212 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.400G>A (p.Val134Met) single nucleotide variant Inborn genetic diseases [RCV002541892]|not provided [RCV001299372] Chr10:93593991 [GRCh38]
Chr10:95353748 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.568+5G>T single nucleotide variant not provided [RCV001366406] Chr10:93593818 [GRCh38]
Chr10:95353575 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.331G>A (p.Val111Ile) single nucleotide variant not provided [RCV001340313] Chr10:93600417 [GRCh38]
Chr10:95360174 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.577G>A (p.Asp193Asn) single nucleotide variant not provided [RCV001366578] Chr10:93592104 [GRCh38]
Chr10:95351861 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.567C>T (p.Asn189=) single nucleotide variant not provided [RCV001316361] Chr10:93593824 [GRCh38]
Chr10:95353581 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001360895] Chr10:93601027 [GRCh38]
Chr10:95360784 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.381A>G (p.Thr127=) single nucleotide variant not provided [RCV001516037] Chr10:93594010 [GRCh38]
Chr10:95353767 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.459C>T (p.Phe153=) single nucleotide variant not provided [RCV001455298] Chr10:93593932 [GRCh38]
Chr10:95353689 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.198C>T (p.Asp66=) single nucleotide variant RBP4-related disorder [RCV003956028]|not provided [RCV001468878] Chr10:93600717 [GRCh38]
Chr10:95360474 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.507T>C (p.Ile169=) single nucleotide variant not provided [RCV001489850] Chr10:93593884 [GRCh38]
Chr10:95353641 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.69A>T (p.Arg23=) single nucleotide variant not provided [RCV001411769] Chr10:93600960 [GRCh38]
Chr10:95360717 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.36G>A (p.Ala12=) single nucleotide variant not provided [RCV001407656] Chr10:93600993 [GRCh38]
Chr10:95360750 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.498G>A (p.Ala166=) single nucleotide variant not provided [RCV001408005] Chr10:93593893 [GRCh38]
Chr10:95353650 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.264C>T (p.Cys88=) single nucleotide variant not provided [RCV001419350] Chr10:93600484 [GRCh38]
Chr10:95360241 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.399C>T (p.Ala133=) single nucleotide variant not provided [RCV001448390] Chr10:93593992 [GRCh38]
Chr10:95353749 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.569-81T>C single nucleotide variant not provided [RCV001671933] Chr10:93592193 [GRCh38]
Chr10:95351950 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.339C>G (p.Ser113=) single nucleotide variant not provided [RCV001477977] Chr10:93600409 [GRCh38]
Chr10:95360166 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.248+13C>T single nucleotide variant not provided [RCV001516199] Chr10:93600654 [GRCh38]
Chr10:95360411 [GRCh37]
Chr10:10q23.33		 benign
NM_006744.4(RBP4):c.576C>T (p.Cys192=) single nucleotide variant not provided [RCV001472135] Chr10:93592105 [GRCh38]
Chr10:95351862 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.156C>A (p.Gly52=) single nucleotide variant not provided [RCV001394231] Chr10:93600759 [GRCh38]
Chr10:95360516 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.82C>T (p.Arg28Ter) single nucleotide variant not provided [RCV001783674] Chr10:93600947 [GRCh38]
Chr10:95360704 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.471G>A (p.Arg157=) single nucleotide variant not provided [RCV001896064] Chr10:93593920 [GRCh38]
Chr10:95353677 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_006744.4(RBP4):c.67C>G (p.Arg23Gly) single nucleotide variant not provided [RCV001948312] Chr10:93600962 [GRCh38]
Chr10:95360719 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.392C>T (p.Thr131Met) single nucleotide variant not provided [RCV001909925] Chr10:93593999 [GRCh38]
Chr10:95353756 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.126G>T (p.Trp42Cys) single nucleotide variant not provided [RCV002040814] Chr10:93600789 [GRCh38]
Chr10:95360546 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.568G>A (p.Gly190Ser) single nucleotide variant not provided [RCV001928459] Chr10:93593823 [GRCh38]
Chr10:95353580 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.198C>A (p.Asp66Glu) single nucleotide variant not provided [RCV002008192] Chr10:93600717 [GRCh38]
Chr10:95360474 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) copy number loss not specified [RCV002052882] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
NM_006744.4(RBP4):c.67C>T (p.Arg23Ter) single nucleotide variant not provided [RCV002002479] Chr10:93600962 [GRCh38]
Chr10:95360719 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_006744.4(RBP4):c.486_487delinsTT (p.Pro163Ser) indel not provided [RCV001966531] Chr10:93593904..93593905 [GRCh38]
Chr10:95353661..95353662 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.405G>A (p.Gln135=) single nucleotide variant not provided [RCV002084652] Chr10:93593986 [GRCh38]
Chr10:95353743 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.295G>A (p.Glu99Lys) single nucleotide variant not provided [RCV002036981] Chr10:93600453 [GRCh38]
Chr10:95360210 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.487C>T (p.Pro163Ser) single nucleotide variant not provided [RCV002051053] Chr10:93593904 [GRCh38]
Chr10:95353661 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.467C>T (p.Ser156Phe) single nucleotide variant not provided [RCV002038261] Chr10:93593924 [GRCh38]
Chr10:95353681 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.110G>T (p.Arg37Leu) single nucleotide variant not provided [RCV001998242] Chr10:93600919 [GRCh38]
Chr10:95360676 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.196G>A (p.Asp66Asn) single nucleotide variant not provided [RCV001996113] Chr10:93600719 [GRCh38]
Chr10:95360476 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.316A>T (p.Met106Leu) single nucleotide variant not provided [RCV001979263] Chr10:93600432 [GRCh38]
Chr10:95360189 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.481G>A (p.Gly161Ser) single nucleotide variant not provided [RCV001995014] Chr10:93593910 [GRCh38]
Chr10:95353667 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.301C>A (p.Pro101Thr) single nucleotide variant not provided [RCV002013013] Chr10:93600447 [GRCh38]
Chr10:95360204 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.41G>A (p.Gly14Asp) single nucleotide variant not provided [RCV001919610] Chr10:93600988 [GRCh38]
Chr10:95360745 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.278G>T (p.Gly93Val) single nucleotide variant not provided [RCV002051156] Chr10:93600470 [GRCh38]
Chr10:95360227 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.13T>C (p.Trp5Arg) single nucleotide variant not provided [RCV001932230] Chr10:93601016 [GRCh38]
Chr10:95360773 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.400G>C (p.Val134Leu) single nucleotide variant not provided [RCV001916500] Chr10:93593991 [GRCh38]
Chr10:95353748 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.111+5G>A single nucleotide variant not provided [RCV002017411] Chr10:93600913 [GRCh38]
Chr10:95360670 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.481G>T (p.Gly161Cys) single nucleotide variant Inborn genetic diseases [RCV004040663]|not provided [RCV001902470] Chr10:93593910 [GRCh38]
Chr10:95353667 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.523G>A (p.Glu175Lys) single nucleotide variant not provided [RCV001883540] Chr10:93593868 [GRCh38]
Chr10:95353625 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.244_248+2del deletion not provided [RCV001990295] Chr10:93600665..93600671 [GRCh38]
Chr10:95360422..95360428 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.568+10G>A single nucleotide variant not provided [RCV002169621] Chr10:93593813 [GRCh38]
Chr10:95353570 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.102C>T (p.Asp34=) single nucleotide variant not provided [RCV002149048] Chr10:93600927 [GRCh38]
Chr10:95360684 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.375C>T (p.Val125=) single nucleotide variant not provided [RCV002105541] Chr10:93594016 [GRCh38]
Chr10:95353773 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.248+14G>A single nucleotide variant not provided [RCV002148682] Chr10:93600653 [GRCh38]
Chr10:95360410 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.112-29_112-18del deletion not provided [RCV002091806] Chr10:93600821..93600832 [GRCh38]
Chr10:95360578..95360589 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.294C>G (p.Thr98=) single nucleotide variant not provided [RCV002146172] Chr10:93600454 [GRCh38]
Chr10:95360211 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.387C>T (p.Tyr129=) single nucleotide variant not provided [RCV002186167] Chr10:93594004 [GRCh38]
Chr10:95353761 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.355+9T>A single nucleotide variant not provided [RCV002186360] Chr10:93600384 [GRCh38]
Chr10:95360141 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.569-10dup duplication not provided [RCV002080869] Chr10:93592121..93592122 [GRCh38]
Chr10:95351878..95351879 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.111+20G>T single nucleotide variant not provided [RCV002172195] Chr10:93600898 [GRCh38]
Chr10:95360655 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.225C>G (p.Ala75=) single nucleotide variant not provided [RCV002090459] Chr10:93600690 [GRCh38]
Chr10:95360447 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.355+10C>G single nucleotide variant not provided [RCV002157209] Chr10:93600383 [GRCh38]
Chr10:95360140 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.25C>T (p.Leu9=) single nucleotide variant not provided [RCV002121944] Chr10:93601004 [GRCh38]
Chr10:95360761 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.78C>T (p.Ser26=) single nucleotide variant not provided [RCV002176948] Chr10:93600951 [GRCh38]
Chr10:95360708 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.192C>G (p.Ser64=) single nucleotide variant not provided [RCV002161194] Chr10:93600723 [GRCh38]
Chr10:95360480 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.303T>C (p.Pro101=) single nucleotide variant not provided [RCV002201873] Chr10:93600445 [GRCh38]
Chr10:95360202 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.141G>A (p.Lys47=) single nucleotide variant not provided [RCV002156732] Chr10:93600774 [GRCh38]
Chr10:95360531 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.510A>C (p.Val170=) single nucleotide variant not provided [RCV002143374] Chr10:93593881 [GRCh38]
Chr10:95353638 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.393G>A (p.Thr131=) single nucleotide variant not provided [RCV002143438] Chr10:93593998 [GRCh38]
Chr10:95353755 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.133A>C (p.Met45Leu) single nucleotide variant not provided [RCV002297022] Chr10:93600782 [GRCh38]
Chr10:95360539 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 copy number loss not provided [RCV002472645] Chr10:89823147..96056941 [GRCh37]
Chr10:10q23.31-23.33		 pathogenic
NM_006744.4(RBP4):c.348G>T (p.Gln116His) single nucleotide variant not provided [RCV002819036] Chr10:93600400 [GRCh38]
Chr10:95360157 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.402G>A (p.Val134=) single nucleotide variant not provided [RCV002638628] Chr10:93593989 [GRCh38]
Chr10:95353746 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.87C>A (p.Val29=) single nucleotide variant not provided [RCV003000087] Chr10:93600942 [GRCh38]
Chr10:95360699 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.111+1G>C single nucleotide variant not provided [RCV002591299] Chr10:93600917 [GRCh38]
Chr10:95360674 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_006744.4(RBP4):c.132C>T (p.Ala44=) single nucleotide variant not provided [RCV003054466] Chr10:93600783 [GRCh38]
Chr10:95360540 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.249-14C>T single nucleotide variant not provided [RCV003018513] Chr10:93600513 [GRCh38]
Chr10:95360270 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.323A>G (p.Tyr108Cys) single nucleotide variant not provided [RCV003039956] Chr10:93600425 [GRCh38]
Chr10:95360182 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.37C>G (p.Leu13Val) single nucleotide variant Inborn genetic diseases [RCV002873267] Chr10:93600992 [GRCh38]
Chr10:95360749 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.568+5G>C single nucleotide variant not provided [RCV002575112] Chr10:93593818 [GRCh38]
Chr10:95353575 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.324_349del (p.Tyr108_Lys117delinsTer) deletion not provided [RCV003039955] Chr10:93600399..93600424 [GRCh38]
Chr10:95360156..95360181 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_006744.4(RBP4):c.543G>A (p.Arg181=) single nucleotide variant not provided [RCV002829585] Chr10:93593848 [GRCh38]
Chr10:95353605 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.248+17G>A single nucleotide variant not provided [RCV002577716] Chr10:93600650 [GRCh38]
Chr10:95360407 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.99C>T (p.Phe33=) single nucleotide variant not provided [RCV003065041] Chr10:93600930 [GRCh38]
Chr10:95360687 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.558C>T (p.Ile186=) single nucleotide variant not provided [RCV003091173] Chr10:93593833 [GRCh38]
Chr10:95353590 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.258C>T (p.Asp86=) single nucleotide variant not provided [RCV002676583] Chr10:93600490 [GRCh38]
Chr10:95360247 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.112-18C>T single nucleotide variant not provided [RCV002601379] Chr10:93600821 [GRCh38]
Chr10:95360578 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.224C>A (p.Ala75Asp) single nucleotide variant not provided [RCV003027314] Chr10:93600691 [GRCh38]
Chr10:95360448 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.257A>T (p.Asp86Val) single nucleotide variant not provided [RCV002670849] Chr10:93600491 [GRCh38]
Chr10:95360248 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.518G>A (p.Arg173Gln) single nucleotide variant not provided [RCV002962157] Chr10:93593873 [GRCh38]
Chr10:95353630 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.355+1G>A single nucleotide variant not provided [RCV003044501] Chr10:93600392 [GRCh38]
Chr10:95360149 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.157C>G (p.Leu53Val) single nucleotide variant not provided [RCV002579755] Chr10:93600758 [GRCh38]
Chr10:95360515 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.470G>A (p.Arg157Gln) single nucleotide variant not provided [RCV002646302] Chr10:93593921 [GRCh38]
Chr10:95353678 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.184G>A (p.Glu62Lys) single nucleotide variant not provided [RCV002658386] Chr10:93600731 [GRCh38]
Chr10:95360488 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.111+18G>A single nucleotide variant not provided [RCV002604400] Chr10:93600900 [GRCh38]
Chr10:95360657 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.111+20G>A single nucleotide variant not provided [RCV002584610] Chr10:93600898 [GRCh38]
Chr10:95360655 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 copy number loss See cases [RCV003159569] Chr10:93281410..97596360 [GRCh37]
Chr10:10q23.32-24.1		 pathogenic
NM_006744.4(RBP4):c.383A>G (p.Asp128Gly) single nucleotide variant Anterior segment dysgenesis [RCV003323308] Chr10:93594008 [GRCh38]
Chr10:95353765 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.358G>C (p.Asp120His) single nucleotide variant Congenital ocular coloboma [RCV003323309] Chr10:93594033 [GRCh38]
Chr10:95353790 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.218C>T (p.Ala73Val) single nucleotide variant Anophthalmia [RCV003323305] Chr10:93600697 [GRCh38]
Chr10:95360454 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.358G>T (p.Asp120Tyr) single nucleotide variant Bilateral microphthalmos [RCV003323306] Chr10:93594033 [GRCh38]
Chr10:95353790 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_006744.4(RBP4):c.271A>G (p.Met91Val) single nucleotide variant Microphthalmia [RCV003323307] Chr10:93600477 [GRCh38]
Chr10:95360234 [GRCh37]
Chr10:10q23.33		 likely pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_006744.4(RBP4):c.472G>T (p.Asp158Tyr) single nucleotide variant Inborn genetic diseases [RCV003346068]|not provided [RCV003778028] Chr10:93593919 [GRCh38]
Chr10:95353676 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.277G>A (p.Gly93Ser) single nucleotide variant Inborn genetic diseases [RCV004369395]|not provided [RCV003570869] Chr10:93600471 [GRCh38]
Chr10:95360228 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 copy number gain not provided [RCV003484809] Chr10:93788061..96452666 [GRCh37]
Chr10:10q23.32-23.33		 uncertain significance
NM_006744.4(RBP4):c.355+8G>T single nucleotide variant not provided [RCV003827704] Chr10:93600385 [GRCh38]
Chr10:95360142 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.85G>C (p.Val29Leu) single nucleotide variant not provided [RCV003572625] Chr10:93600944 [GRCh38]
Chr10:95360701 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.568+7C>A single nucleotide variant not provided [RCV003717938] Chr10:93593816 [GRCh38]
Chr10:95353573 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.60C>A (p.Arg20=) single nucleotide variant not provided [RCV003665710] Chr10:93600969 [GRCh38]
Chr10:95360726 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.372C>T (p.Ile124=) single nucleotide variant not provided [RCV003839393] Chr10:93594019 [GRCh38]
Chr10:95353776 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.588A>G (p.Ser196=) single nucleotide variant not provided [RCV003700370] Chr10:93592093 [GRCh38]
Chr10:95351850 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.465T>C (p.Phe155=) single nucleotide variant not provided [RCV003851322] Chr10:93593926 [GRCh38]
Chr10:95353683 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.111+11G>A single nucleotide variant not provided [RCV003560572] Chr10:93600907 [GRCh38]
Chr10:95360664 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.355+19G>T single nucleotide variant not provided [RCV003819461] Chr10:93600374 [GRCh38]
Chr10:95360131 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.208C>G (p.Gln70Glu) single nucleotide variant not provided [RCV003706888] Chr10:93600707 [GRCh38]
Chr10:95360464 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.199G>A (p.Glu67Lys) single nucleotide variant not provided [RCV003857796] Chr10:93600716 [GRCh38]
Chr10:95360473 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 copy number loss not specified [RCV003986861] Chr10:90796994..100067505 [GRCh37]
Chr10:10q23.31-24.2		 pathogenic
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 copy number loss not specified [RCV003986912] Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2		 pathogenic
NM_006744.4(RBP4):c.213G>A (p.Met71Ile) single nucleotide variant not provided [RCV003867665] Chr10:93600702 [GRCh38]
Chr10:95360459 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_006744.4(RBP4):c.376G>A (p.Asp126Asn) single nucleotide variant not provided [RCV003847802] Chr10:93594015 [GRCh38]
Chr10:95353772 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.497C>T (p.Ala166Val) single nucleotide variant not provided [RCV003842021] Chr10:93593894 [GRCh38]
Chr10:95353651 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.529C>T (p.Leu177=) single nucleotide variant not provided [RCV003670875] Chr10:93593862 [GRCh38]
Chr10:95353619 [GRCh37]
Chr10:10q23.33		 likely benign
NM_006744.4(RBP4):c.302C>T (p.Pro101Leu) single nucleotide variant not provided [RCV003708874] Chr10:93600446 [GRCh38]
Chr10:95360203 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.335C>T (p.Ala112Val) single nucleotide variant Inborn genetic diseases [RCV004443514] Chr10:93600413 [GRCh38]
Chr10:95360170 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.424A>G (p.Asn142Asp) single nucleotide variant Inborn genetic diseases [RCV004443515] Chr10:93593967 [GRCh38]
Chr10:95353724 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.55G>C (p.Glu19Gln) single nucleotide variant Inborn genetic diseases [RCV004443516] Chr10:93600974 [GRCh38]
Chr10:95360731 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_006744.4(RBP4):c.491C>G (p.Pro164Arg) single nucleotide variant Inborn genetic diseases [RCV004660921] Chr10:93593900 [GRCh38]
Chr10:95353657 [GRCh37]
Chr10:10q23.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:539
Count of miRNA genes:243
Interacting mature miRNAs:253
Transcripts:ENST00000371464, ENST00000371467, ENST00000371469
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597059862GWAS1155936_Hoptic disc area measurement QTL GWAS1155936 (human)4e-08optic disc area measurement109360120793601208Human
597026231GWAS1122305_Hblood protein measurement QTL GWAS1122305 (human)7e-09blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)109360027093600271Human
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597492489GWAS1588563_Hcolorectal cancer, hormone replacement therapy QTL GWAS1588563 (human)0.000004colorectal cancer, hormone replacement therapy109359564193595642Human
597180301GWAS1276375_Hretinol-binding protein 4 measurement QTL GWAS1276375 (human)8e-24retinol-binding protein 4 measurement109360027093600271Human
597140128GWAS1236202_Hretinol measurement QTL GWAS1236202 (human)2e-18blood vitamin A amount (VT:0010627)blood retinol level (CMO:0002457)109360120793601208Human
597319010GWAS1415084_Hretinol measurement QTL GWAS1415084 (human)6e-30blood vitamin A amount (VT:0010627)blood retinol level (CMO:0002457)109360120793601208Human
597277735GWAS1373809_Hretinol measurement QTL GWAS1373809 (human)6e-12blood vitamin A amount (VT:0010627)blood retinol level (CMO:0002457)109360120793601208Human
597414564GWAS1510638_Hblood protein measurement QTL GWAS1510638 (human)0.0000001blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)109359702993597030Human

Markers in Region
RH80160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,351,938 - 95,352,174UniSTSGRCh37
Build 361095,341,928 - 95,342,164RGDNCBI36
Celera1089,093,063 - 89,093,299RGD
Cytogenetic Map10q23-q24UniSTS
HuRef1088,979,698 - 88,979,934UniSTS
GeneMap99-GB4 RH Map10445.39UniSTS
RH93967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,357,362 - 95,357,520UniSTSGRCh37
Build 361095,347,352 - 95,347,510RGDNCBI36
Celera1089,098,487 - 89,098,645RGD
Cytogenetic Map10q23-q24UniSTS
HuRef1088,985,122 - 88,985,280UniSTS
GeneMap99-GB4 RH Map10441.43UniSTS
SHGC-132033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,351,625 - 95,351,815UniSTSGRCh37
Build 361095,341,615 - 95,341,805RGDNCBI36
Celera1089,092,750 - 89,092,940RGD
Cytogenetic Map10q23-q24UniSTS
HuRef1088,979,385 - 88,979,575UniSTS
TNG Radiation Hybrid Map1044608.0UniSTS
SHGC-170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,351,615 - 95,351,785UniSTSGRCh37
Build 361095,341,605 - 95,341,775RGDNCBI36
Celera1089,092,740 - 89,092,910RGD
Cytogenetic Map10q23-q24UniSTS
HuRef1088,979,375 - 88,979,545UniSTS
GeneMap99-G3 RH Map104615.0UniSTS
D10S2145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,351,627 - 95,351,732UniSTSGRCh37
Build 361095,341,617 - 95,341,722RGDNCBI36
Celera1089,092,752 - 89,092,857RGD
Cytogenetic Map10q23-q24UniSTS
HuRef1088,979,387 - 88,979,492UniSTS
GeneMap99-G3 RH Map104615.0UniSTS
MARC_24240-24241:1032810986:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,360,203 - 95,360,716UniSTSGRCh37
Build 361095,350,193 - 95,350,706RGDNCBI36
Celera1089,101,328 - 89,101,841RGD
HuRef1088,987,963 - 88,988,476UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2398 2786 2220 4871 1706 2273 2 620 1298 462 2225 6590 5816 37 3673 811 1701 1541 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF025334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF025335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG565176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI712834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX495987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT989643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT989644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000371464   ⟹   ENSP00000360519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,591,694 - 93,601,235 (-)Ensembl
Ensembl Acc Id: ENST00000371467   ⟹   ENSP00000360522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,591,687 - 93,601,663 (-)Ensembl
Ensembl Acc Id: ENST00000371469   ⟹   ENSP00000360524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,591,889 - 93,601,744 (-)Ensembl
Ensembl Acc Id: ENST00000629763   ⟹   ENSP00000487033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,591,837 - 93,601,716 (-)Ensembl
RefSeq Acc Id: NM_001323517   ⟹   NP_001310446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,591,836 - 93,601,513 (-)NCBI
CHM1_11095,634,147 - 95,643,824 (-)NCBI
T2T-CHM13v2.01094,471,788 - 94,481,464 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323518   ⟹   NP_001310447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,591,694 - 93,601,744 (-)NCBI
CHM1_11095,634,147 - 95,644,055 (-)NCBI
T2T-CHM13v2.01094,471,646 - 94,481,695 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006744   ⟹   NP_006735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,591,694 - 93,601,235 (-)NCBI
GRCh371095,351,593 - 95,361,101 (-)NCBI
Build 361095,341,583 - 95,350,983 (-)NCBI Archive
HuRef1088,979,353 - 88,988,753 (-)ENTREZGENE
CHM1_11095,634,147 - 95,643,547 (-)NCBI
T2T-CHM13v2.01094,471,646 - 94,481,186 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006735   ⟸   NM_006744
- Peptide Label: isoform a precursor
- UniProtKB: P02753 (UniProtKB/Swiss-Prot),   Q8WWA3 (UniProtKB/Swiss-Prot),   Q5VY24 (UniProtKB/Swiss-Prot),   O43479 (UniProtKB/Swiss-Prot),   O43478 (UniProtKB/Swiss-Prot),   D3DR38 (UniProtKB/Swiss-Prot),   Q9P178 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310447   ⟸   NM_001323518
- Peptide Label: isoform b
- UniProtKB: Q5VY30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310446   ⟸   NM_001323517
- Peptide Label: isoform a precursor
- UniProtKB: P02753 (UniProtKB/Swiss-Prot),   Q8WWA3 (UniProtKB/Swiss-Prot),   Q5VY24 (UniProtKB/Swiss-Prot),   O43479 (UniProtKB/Swiss-Prot),   O43478 (UniProtKB/Swiss-Prot),   D3DR38 (UniProtKB/Swiss-Prot),   Q9P178 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000360519   ⟸   ENST00000371464
Ensembl Acc Id: ENSP00000360522   ⟸   ENST00000371467
Ensembl Acc Id: ENSP00000360524   ⟸   ENST00000371469
Ensembl Acc Id: ENSP00000487033   ⟸   ENST00000629763
Protein Domains
Lipocalin/cytosolic fatty-acid binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02753-F1-model_v2 AlphaFold P02753 1-201 view protein structure

Promoters
RGD ID:7218201
Promoter ID:EPDNEW_H14845
Type:initiation region
Name:RBP4_1
Description:retinol binding protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,601,235 - 93,601,295EPDNEW
RGD ID:6788043
Promoter ID:HG_KWN:10601
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000371463,   ENST00000371467,   ENST00000371469,   OTTHUMT00000049429,   OTTHUMT00000049432,   OTTHUMT00000049433
Position:
Human AssemblyChrPosition (strand)Source
Build 361095,350,926 - 95,351,426 (-)MPROMDB
RGD ID:6849616
Promoter ID:EP14047
Type:single initiation site
Name:HS_RBP4
Description:Plasma retinol-binding protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361095,350,986 - 95,351,046EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9922 AgrOrtholog
COSMIC RBP4 COSMIC
Ensembl Genes ENSG00000138207 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000371464 ENTREZGENE
  ENST00000371464.8 UniProtKB/Swiss-Prot
  ENST00000371467 ENTREZGENE
  ENST00000371467.5 UniProtKB/Swiss-Prot
  ENST00000371469 ENTREZGENE
  ENST00000371469.2 UniProtKB/TrEMBL
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138207 GTEx
HGNC ID HGNC:9922 ENTREZGENE
Human Proteome Map RBP4 Human Proteome Map
InterPro Calycin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin_ApoD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Retinol-bd/Purpurin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5950 UniProtKB/Swiss-Prot
NCBI Gene 5950 ENTREZGENE
OMIM 180250 OMIM
PANTHER PTHR11873 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINOL-BINDING PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipocalin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34289 PharmGKB, RGD
PIRSF Lipocalin_ApoD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBP_purpurin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS LIPOCALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINOLBNDNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LIPOCALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DR38 ENTREZGENE
  O43478 ENTREZGENE
  O43479 ENTREZGENE
  P02753 ENTREZGENE
  Q5VY24 ENTREZGENE
  Q5VY30 ENTREZGENE, UniProtKB/TrEMBL
  Q8WWA3 ENTREZGENE
  Q9P178 ENTREZGENE
  RET4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DR38 UniProtKB/Swiss-Prot
  O43478 UniProtKB/Swiss-Prot
  O43479 UniProtKB/Swiss-Prot
  Q5VY24 UniProtKB/Swiss-Prot
  Q8WWA3 UniProtKB/Swiss-Prot
  Q9P178 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 RBP4  retinol binding protein 4  RBP4  retinol binding protein 4, plasma  Symbol and/or name change 5135510 APPROVED