LBP (lipopolysaccharide binding protein) - Rat Genome Database

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Gene: LBP (lipopolysaccharide binding protein) Homo sapiens
Analyze
Symbol: LBP
Name: lipopolysaccharide binding protein
RGD ID: 1347766
HGNC Page HGNC:6517
Description: Enables several functions, including coreceptor activity; lipopolysaccharide binding activity; and lipoteichoic acid binding activity. Involved in several processes, including positive regulation of innate immune response; regulation of cytokine production; and response to bacterium. Acts upstream of or within cellular response to lipopolysaccharide; cellular response to lipoteichoic acid; and positive regulation of tumor necrosis factor production. Located in cell surface and extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BPI fold containing family D, member 2; BPIFD2; lipopolysaccharide-binding protein; LPS-binding protein; MGC22233
RGD Orthologs
Mouse
Rat
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
GRCh382038,346,482 - 38,377,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2038,346,482 - 38,377,013 (+)EnsemblGRCh38hg38GRCh38
GRCh372036,974,885 - 37,005,655 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362036,408,299 - 36,439,067 (+)NCBINCBI36Build 36hg18NCBI36
Build 342036,408,298 - 36,439,067NCBI
Celera2033,683,680 - 33,714,456 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2033,709,729 - 33,740,760 (+)NCBIHuRef
CHM1_12036,878,602 - 36,909,384 (+)NCBICHM1_1
T2T-CHM13v2.02040,072,800 - 40,104,597 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
alpha-amanitin  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acids  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
atazanavir sulfate  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzylpenicillin  (ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chloroform  (ISO)
ciguatoxin CTX1B  (ISO)
cobalt dichloride  (ISO)
crocidolite asbestos  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (ISO)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (ISO)
diclofenac  (ISO)
diiodine  (ISO)
dimethylarsinic acid  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
erythromycin A  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
Ginkgolide A  (ISO)
glafenine  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
graphene oxide  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
ketamine  (EXP)
lead diacetate  (ISO)
leflunomide  (ISO)
levofloxacin  (ISO)
lipopolysaccharide  (EXP,ISO)
menadione  (ISO)
methimazole  (ISO)
methotrexate  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naloxone  (ISO)
nefazodone  (EXP)
nickel atom  (EXP)
Nonylphenol  (ISO)
O-methyleugenol  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenacetin  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
pipoxolan  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quinidine  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulindac  (ISO)
Sunset Yellow FCF  (EXP)
tacrolimus hydrate  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (IBA,IEA,IEP,ISS)
cell surface pattern recognition receptor signaling pathway  (IDA)
cellular defense response  (ISS)
cellular response to lipopolysaccharide  (IDA,IEA,IMP)
cellular response to lipoteichoic acid  (IDA)
defense response to bacterium  (IEA)
defense response to Gram-negative bacterium  (IBA,IDA,IEA,ISO,ISS)
defense response to Gram-positive bacterium  (IBA,IDA,IEA)
detection of molecule of bacterial origin  (IDA)
innate immune response  (IBA,IC,IEA,ISS)
leukocyte chemotaxis involved in inflammatory response  (IEA,ISO)
lipid transport  (IEA)
lipopolysaccharide transport  (IDA)
lipopolysaccharide-mediated signaling pathway  (IBA,IDA)
liver development  (ISO)
macrophage activation involved in immune response  (IBA,IEA,IMP,ISS)
negative regulation of tumor necrosis factor production  (IDA)
neutrophil chemotaxis  (IEA,ISO)
opsonization  (IC,ISS)
positive regulation of chemokine production  (IEA,ISO)
positive regulation of interleukin-6 production  (IDA)
positive regulation of interleukin-8 production  (IDA)
positive regulation of macrophage activation  (IBA,IDA,ISO)
positive regulation of neutrophil chemotaxis  (IEA,ISO)
positive regulation of phagocytosis, engulfment  (ISO)
positive regulation of respiratory burst involved in inflammatory response  (IEA,ISS)
positive regulation of toll-like receptor 4 signaling pathway  (IDA)
positive regulation of tumor necrosis factor production  (IDA,IEA,IMP,ISS)
regulation of membrane permeability  (ISO)
response to ethanol  (ISO)
response to lipopolysaccharide  (IDA,IEA,ISO)

Cellular Component
cell surface  (IDA,IEA)
extracellular exosome  (HDA)
extracellular region  (IEA,TAS)
extracellular space  (IBA,IDA,IEA,ISO,ISS)
membrane  (IEA)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Lipopolysaccharide-binding protein and lipopolysaccharide receptor CD14 gene expression after thermal injury and its potential mechanism(s). Fang CW, etal., J Trauma. 2002 Nov;53(5):957-67.
2. Serum LBP levels reflect the impaired synthetic capacity of the remnant liver after partial hepatectomy in rats. Fang H, etal., J Immunol Methods. 2012 Aug 31;382(1-2):68-75. doi: 10.1016/j.jim.2012.05.006. Epub 2012 May 8.
3. Induction of hepatocyte lipopolysaccharide binding protein in models of sepsis and the acute-phase response. Geller DA, etal., Arch Surg. 1993 Jan;128(1):22-7; discussion 27-8.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Dietary supplementation of n-3 PUFA reduces weight gain and improves postprandial lipaemia and the associated inflammatory response in the obese JCR:LA-cp rat. Hassanali Z, etal., Diabetes Obes Metab. 2010 Feb;12(2):139-47. doi: 10.1111/j.1463-1326.2009.01130.x. Epub 2009 Nov 16.
6. Activity of lipopolysaccharide-binding protein-bactericidal/permeability-increasing protein fusion peptide in an experimental model of Pseudomonas sepsis. Opal SM, etal., Antimicrob Agents Chemother. 1995 Dec;39(12):2813-5.
7. Myeloid differentiation 2 as a therapeutic target of inflammatory disorders. Park SH, etal., Pharmacol Ther. 2012 Mar;133(3):291-8. doi: 10.1016/j.pharmthera.2011.11.001. Epub 2011 Nov 19.
8. Puerarin ameliorates experimental alcoholic liver injury by inhibition of endotoxin gut leakage, Kupffer cell activation, and endotoxin receptors expression. Peng JH, etal., J Pharmacol Exp Ther. 2013 Mar;344(3):646-54. doi: 10.1124/jpet.112.201137. Epub 2012 Dec 31.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Altered gene expression in gingival tissues and enhanced bone loss in rats with diabetes with experimental periodontitis. Soboku K, etal., J Periodontol. 2014 Mar;85(3):455-64. doi: 10.1902/jop.2013.120705. Epub 2013 Jun 3.
14. High-density lipoprotein administration attenuates liver proinflammatory response, restores liver endothelial nitric oxide synthase activity, and lowers portal pressure in cirrhotic rats. Thabut D, etal., Hepatology. 2007 Dec;46(6):1893-906.
15. The Kinetic Expression of Lipopolysaccharide-Binding Protein and CD14 Gene in Obstructive Jaundice. Tsai CH, etal., J Invest Surg. 2014 Aug 5.
16. Activation of the lipopolysaccharide signaling pathway in hepatic transplantation preservation injury. Tsoulfas G, etal., Transplantation. 2002 Jul 15;74(1):7-13.
17. LBP inhibitory peptide reduces endotoxin-induced macrophage activation and mortality. Wu X, etal., Inflamm Res. 2005 Nov;54(11):451-7.
18. [Role of endotoxin translocation on mesenteric lymph reperfusion aggravating multiple organ injury in SMAO shock rats]. Yang LN, etal., Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2012 Jan;28(1):74-8.
Additional References at PubMed
PMID:2402637   PMID:2477488   PMID:7517398   PMID:7583357   PMID:8409400   PMID:8432532   PMID:8663389   PMID:8985160   PMID:9179291   PMID:9240454   PMID:9338787   PMID:9441745  
PMID:9568897   PMID:9665271   PMID:10453023   PMID:10768924   PMID:10811873   PMID:10919979   PMID:11373419   PMID:11528597   PMID:11544322   PMID:11598069   PMID:11739189   PMID:11773072  
PMID:11780052   PMID:11976738   PMID:11991204   PMID:12117913   PMID:12417309   PMID:12477932   PMID:12521224   PMID:12538700   PMID:12594207   PMID:12615620   PMID:12754215   PMID:12831460  
PMID:12932360   PMID:14718574   PMID:15127192   PMID:15294986   PMID:15618154   PMID:15932345   PMID:16303759   PMID:16493079   PMID:16512634   PMID:16907704   PMID:16928689   PMID:18029348  
PMID:18056482   PMID:18056918   PMID:18288274   PMID:18397383   PMID:18559343   PMID:18783308   PMID:18987746   PMID:19010986   PMID:19056867   PMID:19200604   PMID:19423540   PMID:19522765  
PMID:19560454   PMID:19707138   PMID:19718443   PMID:19913121   PMID:20346360   PMID:20379614   PMID:20381257   PMID:20406964   PMID:20438785   PMID:20530747   PMID:20628086   PMID:20800603  
PMID:20865702   PMID:21353369   PMID:21633598   PMID:21702700   PMID:21722015   PMID:21740312   PMID:21873635   PMID:21901123   PMID:21988832   PMID:22476641   PMID:22552880   PMID:22736337  
PMID:22960476   PMID:23349936   PMID:23376485   PMID:23382691   PMID:23430250   PMID:23463341   PMID:23533145   PMID:24024966   PMID:24120359   PMID:24276451   PMID:24312369   PMID:24335151  
PMID:24667918   PMID:24906952   PMID:25014514   PMID:25063948   PMID:25613713   PMID:25753130   PMID:25785448   PMID:25978344   PMID:26046926   PMID:26799617   PMID:26804480   PMID:26880233  
PMID:28107471   PMID:28486964   PMID:28851981   PMID:29494603   PMID:29987050   PMID:30059659   PMID:30479651   PMID:31029530   PMID:31299414   PMID:32570947   PMID:32814053   PMID:33099510  
PMID:33495502   PMID:34653303   PMID:34732716   PMID:34921059   PMID:34948768   PMID:35294531   PMID:35332176   PMID:37480114   PMID:37789385   PMID:38615060  


Genomics

Comparative Map Data
LBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382038,346,482 - 38,377,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2038,346,482 - 38,377,013 (+)EnsemblGRCh38hg38GRCh38
GRCh372036,974,885 - 37,005,655 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362036,408,299 - 36,439,067 (+)NCBINCBI36Build 36hg18NCBI36
Build 342036,408,298 - 36,439,067NCBI
Celera2033,683,680 - 33,714,456 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2033,709,729 - 33,740,760 (+)NCBIHuRef
CHM1_12036,878,602 - 36,909,384 (+)NCBICHM1_1
T2T-CHM13v2.02040,072,800 - 40,104,597 (+)NCBIT2T-CHM13v2.0
Lbp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392158,148,413 - 158,174,772 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2158,148,413 - 158,174,772 (+)EnsemblGRCm39 Ensembl
GRCm382158,306,493 - 158,332,852 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2158,306,493 - 158,332,852 (+)EnsemblGRCm38mm10GRCm38
MGSCv372158,132,229 - 158,158,588 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362157,997,986 - 158,023,737 (+)NCBIMGSCv36mm8
Celera2164,244,570 - 164,269,152 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map278.72NCBI
Lbp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83167,373,786 - 167,400,941 (+)NCBIGRCr8
mRatBN7.23146,953,889 - 146,981,032 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3146,954,015 - 146,981,586 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3150,786,436 - 150,813,463 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03159,285,723 - 159,312,752 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03157,020,490 - 157,047,489 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03154,786,232 - 154,812,910 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3154,786,215 - 154,813,464 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03160,793,301 - 160,819,979 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43149,016,605 - 149,043,530 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13148,922,500 - 148,949,992 (+)NCBI
Celera3145,655,280 - 145,682,077 (+)NCBICelera
Cytogenetic Map3q42NCBI
LBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22144,070,881 - 44,103,778 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12044,063,979 - 44,096,876 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02034,670,128 - 34,703,046 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12035,780,768 - 35,813,188 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2035,780,768 - 35,813,188 (+)Ensemblpanpan1.1panPan2
LBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12426,810,369 - 26,833,515 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2426,809,843 - 26,833,434 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2426,456,134 - 26,479,256 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02427,506,422 - 27,529,551 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2427,506,460 - 27,529,472 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12426,780,778 - 26,803,800 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02426,888,642 - 26,911,780 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02427,377,130 - 27,400,265 (+)NCBIUU_Cfam_GSD_1.0
Lbp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640175,713,998 - 175,732,560 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365613,016,926 - 3,035,552 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365613,017,471 - 3,035,481 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1741,398,791 - 41,429,551 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11741,398,935 - 41,429,467 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21746,838,042 - 46,868,577 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LBP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1225,375,364 - 25,407,181 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl225,374,755 - 25,406,839 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605074,213,568 - 74,246,762 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lbp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248421,301,831 - 1,332,346 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248421,306,299 - 1,332,269 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LBP
71 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_004139.4(LBP):c.959C>T (p.Ser320Phe) single nucleotide variant Malignant melanoma [RCV000072626] Chr20:38366806 [GRCh38]
Chr20:36995450 [GRCh37]
Chr20:36428864 [NCBI36]
Chr20:20q11.23		 not provided
NM_004139.5(LBP):c.998C>T (p.Pro333Leu) single nucleotide variant not provided [RCV000143861] Chr20:38369011 [GRCh38]
Chr20:38369011..38369012 [GRCh38]
Chr20:36997655 [GRCh37]
Chr20:36997655..36997656 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_004139.5(LBP):c.659C>T (p.Thr220Ile) single nucleotide variant not specified [RCV004304525] Chr20:38363981 [GRCh38]
Chr20:36992635 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.231G>C (p.Glu77Asp) single nucleotide variant not specified [RCV004310215] Chr20:38349654 [GRCh38]
Chr20:36978057 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.23(chr20:36960905-37061017)x1 copy number loss not provided [RCV000684101] Chr20:36960905..37061017 [GRCh37]
Chr20:20q11.23		 likely benign
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_004139.5(LBP):c.622G>A (p.Asp208Asn) single nucleotide variant not provided [RCV000951350] Chr20:38360737 [GRCh38]
Chr20:36989391 [GRCh37]
Chr20:20q11.23		 benign
NM_004139.5(LBP):c.1316A>C (p.Lys439Thr) single nucleotide variant not provided [RCV000966087] Chr20:38373127 [GRCh38]
Chr20:37001771 [GRCh37]
Chr20:20q11.23		 benign
NM_004139.5(LBP):c.746G>A (p.Gly249Asp) single nucleotide variant not provided [RCV000968407] Chr20:38364577 [GRCh38]
Chr20:36993231 [GRCh37]
Chr20:20q11.23		 benign
NM_004139.5(LBP):c.641A>G (p.Gln214Arg) single nucleotide variant not provided [RCV000891789] Chr20:38360756 [GRCh38]
Chr20:36989410 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.144A>G (p.Leu48=) single nucleotide variant not provided [RCV000948048] Chr20:38349567 [GRCh38]
Chr20:38349567..38349568 [GRCh38]
Chr20:36977970 [GRCh37]
Chr20:36977970..36977971 [GRCh37]
Chr20:20q11.23		 benign
NM_004139.5(LBP):c.1015C>T (p.Leu339Phe) single nucleotide variant not provided [RCV000879923] Chr20:38369028 [GRCh38]
Chr20:36997672 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.373C>A (p.Leu125Ile) single nucleotide variant not provided [RCV000950860] Chr20:38354288 [GRCh38]
Chr20:36982688 [GRCh37]
Chr20:20q11.23		 benign
NM_004139.5(LBP):c.271T>A (p.Ser91Thr) single nucleotide variant not provided [RCV000969834] Chr20:38350842 [GRCh38]
Chr20:36979245 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.612A>G (p.Ser204=) single nucleotide variant not provided [RCV000948494] Chr20:38360727 [GRCh38]
Chr20:36989381 [GRCh37]
Chr20:20q11.23		 benign
NM_004139.5(LBP):c.1335C>T (p.Ala445=) single nucleotide variant not provided [RCV000914413] Chr20:38373947 [GRCh38]
Chr20:37002591 [GRCh37]
Chr20:20q11.23		 benign
NM_004139.5(LBP):c.726G>A (p.Met242Ile) single nucleotide variant not provided [RCV000974144] Chr20:38364048 [GRCh38]
Chr20:36992702 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.276G>A (p.Ala92=) single nucleotide variant not provided [RCV000910789] Chr20:38350847 [GRCh38]
Chr20:36979250 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.1209G>C (p.Lys403Asn) single nucleotide variant not specified [RCV004289736] Chr20:38370797 [GRCh38]
Chr20:36999441 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.676G>A (p.Ala226Thr) single nucleotide variant not specified [RCV004196047] Chr20:38363998 [GRCh38]
Chr20:36992652 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.893A>G (p.Tyr298Cys) single nucleotide variant not specified [RCV004163689] Chr20:38364724 [GRCh38]
Chr20:36993378 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.935C>T (p.Ser312Phe) single nucleotide variant not specified [RCV004131427] Chr20:38366782 [GRCh38]
Chr20:36995426 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.1105C>T (p.Leu369Phe) single nucleotide variant not specified [RCV004175434] Chr20:38369118 [GRCh38]
Chr20:36997762 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.94G>A (p.Ala32Thr) single nucleotide variant not specified [RCV004221812] Chr20:38346610 [GRCh38]
Chr20:36975013 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.1382T>C (p.Leu461Pro) single nucleotide variant not specified [RCV004269172] Chr20:38373994 [GRCh38]
Chr20:37002638 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.1229A>G (p.Glu410Gly) single nucleotide variant not specified [RCV004267767] Chr20:38371291 [GRCh38]
Chr20:36999935 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.683T>C (p.Ile228Thr) single nucleotide variant not specified [RCV004267796] Chr20:38364005 [GRCh38]
Chr20:36992659 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.926C>T (p.Pro309Leu) single nucleotide variant not specified [RCV004253635] Chr20:38366773 [GRCh38]
Chr20:36995417 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.338A>G (p.Gln113Arg) single nucleotide variant not specified [RCV004314312] Chr20:38350909 [GRCh38]
Chr20:36979312 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.224G>T (p.Arg75Leu) single nucleotide variant not specified [RCV004358920] Chr20:38349647 [GRCh38]
Chr20:36978050 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.941T>G (p.Ile314Ser) single nucleotide variant not specified [RCV004339833] Chr20:38366788 [GRCh38]
Chr20:36995432 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.1203C>T (p.Phe401=) single nucleotide variant not provided [RCV003431319] Chr20:38370791 [GRCh38]
Chr20:36999435 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.1231C>G (p.Leu411Val) single nucleotide variant not specified [RCV004410296] Chr20:38371293 [GRCh38]
Chr20:36999937 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.1257C>A (p.Phe419Leu) single nucleotide variant not specified [RCV004410297] Chr20:38371319 [GRCh38]
Chr20:36999963 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.1336G>A (p.Glu446Lys) single nucleotide variant not specified [RCV004410298] Chr20:38373948 [GRCh38]
Chr20:37002592 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.1397A>G (p.His466Arg) single nucleotide variant not specified [RCV004410299] Chr20:38374009 [GRCh38]
Chr20:37002653 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.1436T>G (p.Met479Arg) single nucleotide variant not specified [RCV004410300] Chr20:38376659 [GRCh38]
Chr20:37005301 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.20C>T (p.Ala7Val) single nucleotide variant not specified [RCV004410301] Chr20:38346536 [GRCh38]
Chr20:36974939 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.240C>T (p.Ser80=) single nucleotide variant not specified [RCV004410302] Chr20:38350811 [GRCh38]
Chr20:36979214 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.241C>G (p.Leu81Val) single nucleotide variant not specified [RCV004410303] Chr20:38350812 [GRCh38]
Chr20:36979215 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.367T>C (p.Phe123Leu) single nucleotide variant not specified [RCV004410304] Chr20:38350938 [GRCh38]
Chr20:36979341 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.448G>A (p.Gly150Arg) single nucleotide variant not specified [RCV004410305] Chr20:38354363 [GRCh38]
Chr20:36982763 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.502G>A (p.Val168Met) single nucleotide variant not specified [RCV004410306] Chr20:38354417 [GRCh38]
Chr20:36982817 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.523G>C (p.Gly175Arg) single nucleotide variant not specified [RCV004410308] Chr20:38354438 [GRCh38]
Chr20:36982838 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.769C>T (p.Arg257Cys) single nucleotide variant not specified [RCV004410309] Chr20:38364600 [GRCh38]
Chr20:36993254 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.776C>T (p.Pro259Leu) single nucleotide variant not specified [RCV004410310] Chr20:38364607 [GRCh38]
Chr20:36993261 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.822C>A (p.Asn274Lys) single nucleotide variant not specified [RCV004410311] Chr20:38364653 [GRCh38]
Chr20:36993307 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.845C>T (p.Ser282Leu) single nucleotide variant not specified [RCV004410312] Chr20:38364676 [GRCh38]
Chr20:36993330 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.1186A>G (p.Ser396Gly) single nucleotide variant not specified [RCV004642141] Chr20:38370774 [GRCh38]
Chr20:36999418 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.214G>A (p.Gly72Ser) single nucleotide variant not specified [RCV004642139] Chr20:38349637 [GRCh38]
Chr20:36978040 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.82C>G (p.Pro28Ala) single nucleotide variant not specified [RCV004642137] Chr20:38346598 [GRCh38]
Chr20:36975001 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.968C>A (p.Pro323His) single nucleotide variant not specified [RCV004642140] Chr20:38366815 [GRCh38]
Chr20:36995459 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.214G>T (p.Gly72Cys) single nucleotide variant not specified [RCV004642143] Chr20:38349637 [GRCh38]
Chr20:36978040 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.979C>T (p.Arg327Trp) single nucleotide variant not specified [RCV004633889] Chr20:38366826 [GRCh38]
Chr20:36995470 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.59C>T (p.Thr20Ile) single nucleotide variant not specified [RCV004633890] Chr20:38346575 [GRCh38]
Chr20:36974978 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.49C>A (p.Leu17Ile) single nucleotide variant not specified [RCV004642144] Chr20:38346565 [GRCh38]
Chr20:36974968 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.829G>T (p.Val277Phe) single nucleotide variant not specified [RCV004642142] Chr20:38364660 [GRCh38]
Chr20:36993314 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.331C>T (p.Arg111Trp) single nucleotide variant not specified [RCV004939868] Chr20:38350902 [GRCh38]
Chr20:36979305 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.552G>T (p.Gln184His) single nucleotide variant not specified [RCV004939869] Chr20:38355373 [GRCh38]
Chr20:36983773 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.665T>C (p.Ile222Thr) single nucleotide variant not specified [RCV004939870] Chr20:38363987 [GRCh38]
Chr20:36992641 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_004139.5(LBP):c.501G>T (p.Glu167Asp) single nucleotide variant not specified [RCV004939866] Chr20:38354416 [GRCh38]
Chr20:36982816 [GRCh37]
Chr20:20q11.23		 likely benign
NM_004139.5(LBP):c.452G>A (p.Arg151Lys) single nucleotide variant not specified [RCV004939867] Chr20:38354367 [GRCh38]
Chr20:36982767 [GRCh37]
Chr20:20q11.23		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR22hsa-miR-22-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:251
Count of miRNA genes:221
Interacting mature miRNAs:232
Transcripts:ENST00000217407
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
597177115GWAS1273189_Hintercellular adhesion molecule 2 measurement QTL GWAS1273189 (human)2e-12intercellular adhesion molecule 2 measurement203834762438347625Human
597122577GWAS1218651_Hblood protein measurement QTL GWAS1218651 (human)2e-264blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597171103GWAS1267177_Hcilia- and flagella-associated protein 45 measurement QTL GWAS1267177 (human)2e-14cilia- and flagella-associated protein 45 measurement203836901138369012Human
407046986GWAS695962_Hperiodontitis QTL GWAS695962 (human)0.000002periodontitis203834923338349234Human
597303569GWAS1399643_Hlevel of thioredoxin-like protein 4A in blood serum QTL GWAS1399643 (human)1e-50level of thioredoxin-like protein 4A in blood serum203835441138354412Human
597120519GWAS1216593_Hblood protein measurement QTL GWAS1216593 (human)9e-303blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597181195GWAS1277269_Hlipopolysaccharide-binding protein measurement QTL GWAS1277269 (human)4e-624lipopolysaccharide-binding protein measurement203836901138369012Human
597179404GWAS1275478_Hsignal-transducing adaptor protein 1 measurement QTL GWAS1275478 (human)5e-43signal-transducing adaptor protein 1 measurement203836901138369012Human
597300749GWAS1396823_Hheterogeneous nuclear ribonucleoproteins C1/C2 measurement QTL GWAS1396823 (human)1e-30heterogeneous nuclear ribonucleoproteins C1/C2 measurement203836901138369012Human
597124107GWAS1220181_Hblood protein measurement QTL GWAS1220181 (human)1e-83blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203835010738350108Human
597303353GWAS1399427_Hlevel of alpha-aminoadipic semialdehyde dehydrogenase in blood serum QTL GWAS1399427 (human)2e-13level of alpha-aminoadipic semialdehyde dehydrogenase in blood serum203836901138369012Human
597433656GWAS1529730_Hprotein measurement QTL GWAS1529730 (human)4e-53protein measurement203836901138369012Human
597178940GWAS1275014_Hprotein measurement QTL GWAS1275014 (human)3e-184protein measurement203836901138369012Human
597123250GWAS1219324_Hblood protein measurement QTL GWAS1219324 (human)6e-40blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597180607GWAS1276681_Hprotein measurement QTL GWAS1276681 (human)1e-18protein measurement203835441138354412Human
597179697GWAS1275771_Hbactericidal permeability-increasing protein measurement QTL GWAS1275771 (human)2e-112neutrophil phagocytosis trait (VT:0002467)203835169338351694Human
597179698GWAS1275772_Hbactericidal permeability-increasing protein measurement QTL GWAS1275772 (human)1e-50neutrophil phagocytosis trait (VT:0002467)203835067038350671Human
597237684GWAS1333758_Hblood protein measurement QTL GWAS1333758 (human)0.000001blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836870538368706Human
597237686GWAS1333760_Hblood protein measurement QTL GWAS1333760 (human)1e-306blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597300648GWAS1396722_HPR domain zinc finger protein 1 measurement QTL GWAS1396722 (human)4e-33PR domain zinc finger protein 1 measurement203836901138369012Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
597171758GWAS1267832_Hchitinase-3-like protein 2 measurement QTL GWAS1267832 (human)6e-14chitinase-3-like protein 2 measurement203836901138369012Human
597172385GWAS1268459_Hprotein measurement QTL GWAS1268459 (human)3e-16protein measurement203836901138369012Human
597180964GWAS1277038_Hlipopolysaccharide-binding protein measurement QTL GWAS1277038 (human)9e-33lipopolysaccharide-binding protein measurement203835441138354412Human
597122602GWAS1218676_Hblood protein measurement QTL GWAS1218676 (human)4e-12blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203835010738350108Human
597180965GWAS1277039_Hlipopolysaccharide-binding protein measurement QTL GWAS1277039 (human)5e-93lipopolysaccharide-binding protein measurement203837180838371810Human
597238746GWAS1334820_Hblood protein measurement QTL GWAS1334820 (human)1e-12blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597172443GWAS1268517_Hprotein measurement QTL GWAS1268517 (human)2e-25protein measurement203836901138369012Human
597175773GWAS1271847_Hprotein measurement QTL GWAS1271847 (human)2e-15protein measurement203836950538369507Human
597175774GWAS1271848_Hprotein measurement QTL GWAS1271848 (human)8e-562protein measurement203836901138369012Human
597303634GWAS1399708_Hlevel of serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform in blood serum QTL GWAS1399708 (human)4e-16level of serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform in blood serum203835441138354412Human
597174992GWAS1271066_HCD226 antigen measurement QTL GWAS1271066 (human)3e-15CD226 antigen measurement203835723138357232Human
597332817GWAS1428891_HS-6-hydroxywarfarin measurement QTL GWAS1428891 (human)0.000002S-6-hydroxywarfarin measurement203835324438353245Human
597170771GWAS1266845_Hacidic leucine-rich nuclear phosphoprotein 32 family member A measurement QTL GWAS1266845 (human)3e-15acidic leucine-rich nuclear phosphoprotein 32 family member A measurement203836901138369012Human
597180502GWAS1276576_HRAC-beta serine/threonine-protein kinase measurement QTL GWAS1276576 (human)3e-36RAC-beta serine/threonine-protein kinase measurement203836901138369012Human
597171272GWAS1267346_Hprotein measurement QTL GWAS1267346 (human)7e-36protein measurement203836901138369012Human
597124038GWAS1220112_Hblood protein measurement QTL GWAS1220112 (human)5e-22blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597124166GWAS1220240_Hblood protein measurement QTL GWAS1220240 (human)1e-14blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597170250GWAS1266324_Hkeratinocyte differentiation-associated protein measurement QTL GWAS1266324 (human)4e-17keratinocyte differentiation-associated protein measurement203836901138369012Human
597304393GWAS1400467_Hlevel of inositol monophosphatase 1 in blood serum QTL GWAS1400467 (human)1e-21level of inositol monophosphatase 1 in blood serum203835441138354412Human
597181261GWAS1277335_Hmitochondrial ubiquitin ligase activator of NFKB 1 measurement QTL GWAS1277335 (human)9e-13mitochondrial ubiquitin ligase activator of NFKB 1 measurement203835132338351324Human
597182400GWAS1278474_Htranscription factor IIIb 90 kda subunit measurement QTL GWAS1278474 (human)5e-41transcription factor IIIb 90 kda subunit measurement203836901138369012Human
597180608GWAS1276682_Hprotein measurement QTL GWAS1276682 (human)2e-73protein measurement203836901138369012Human
597123916GWAS1219990_Hblood protein measurement QTL GWAS1219990 (human)8e-163blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597178692GWAS1274766_Hprotein measurement QTL GWAS1274766 (human)4e-23protein measurement203835441138354412Human
597170244GWAS1266318_Hprotein measurement QTL GWAS1266318 (human)1e-13protein measurement203835723138357232Human
597307974GWAS1404048_Hlevel of colipase-like protein 1 in blood serum QTL GWAS1404048 (human)1e-24level of colipase-like protein 1 in blood serum203836901138369012Human
597123401GWAS1219475_Hblood protein measurement QTL GWAS1219475 (human)8e-19blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
407026722GWAS675698_Hserum IgG glycosylation measurement QTL GWAS675698 (human)0.000005serum IgG glycosylation measurement203834956738349568Human
597302907GWAS1398981_HRAC-beta serine/threonine-protein kinase measurement QTL GWAS1398981 (human)6e-21RAC-beta serine/threonine-protein kinase measurement203835441138354412Human
597235323GWAS1331397_Hblood protein measurement QTL GWAS1331397 (human)3e-43blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203836901138369012Human
597322226GWAS1418300_HRAC-beta serine/threonine-protein kinase measurement QTL GWAS1418300 (human)5e-13RAC-beta serine/threonine-protein kinase measurement203835441138354412Human
597274480GWAS1370554_Hlipopolysaccharide-binding protein measurement QTL GWAS1370554 (human)2e-24lipopolysaccharide-binding protein measurement203836901138369012Human
597122428GWAS1218502_Hblood protein measurement QTL GWAS1218502 (human)3e-17blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203835723138357232Human
597180148GWAS1276222_Hprotein measurement QTL GWAS1276222 (human)4e-15protein measurement203836901138369012Human
597301858GWAS1397932_Hlevel of cellular tumor antigen p53 in blood serum QTL GWAS1397932 (human)2e-22level of cellular tumor antigen p53 in blood serum203835441138354412Human
597274465GWAS1370539_Hlipopolysaccharide-binding protein measurement QTL GWAS1370539 (human)6e-21lipopolysaccharide-binding protein measurement203836064838360649Human
597274467GWAS1370541_Hlipopolysaccharide-binding protein measurement QTL GWAS1370541 (human)8e-17lipopolysaccharide-binding protein measurement203835266038352661Human
597123693GWAS1219767_Hblood protein measurement QTL GWAS1219767 (human)4e-23blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)203835723138357232Human
597300710GWAS1396784_Hcytochrome c oxidase subunit 8A, mitochondrial measurement QTL GWAS1396784 (human)1e-104cytochrome c oxidase subunit 8A, mitochondrial measurement203836901138369012Human
597274468GWAS1370542_Hlipopolysaccharide-binding protein measurement QTL GWAS1370542 (human)4e-16lipopolysaccharide-binding protein measurement203835692938356930Human
597181285GWAS1277359_Hheterogeneous nuclear ribonucleoproteins C1/C2 measurement QTL GWAS1277359 (human)1e-43heterogeneous nuclear ribonucleoproteins C1/C2 measurement203836901138369012Human
597274470GWAS1370544_Hlipopolysaccharide-binding protein measurement QTL GWAS1370544 (human)4e-142lipopolysaccharide-binding protein measurement203835441138354412Human

Markers in Region
fa14e09.s1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37728,195,390 - 28,195,694UniSTSGRCh37
GRCh372036,992,370 - 36,992,584UniSTSGRCh37
Build 36728,161,915 - 28,162,219RGDNCBI36
Celera2033,701,171 - 33,701,383UniSTS
Celera728,185,398 - 28,185,702RGD
HuRef2033,727,526 - 33,727,738UniSTS
HuRef728,077,293 - 28,077,597UniSTS
CRA_TCAGchr7v2728,245,957 - 28,246,261UniSTS
RH11581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,005,494 - 37,005,596UniSTSGRCh37
Build 362036,438,908 - 36,439,010RGDNCBI36
Celera2033,714,297 - 33,714,399RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,740,601 - 33,740,703UniSTS
GeneMap99-GB4 RH Map20212.44UniSTS
LBP_2743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,005,221 - 37,005,663UniSTSGRCh37
Build 362036,438,635 - 36,439,077RGDNCBI36
Celera2033,714,024 - 33,714,466RGD
HuRef2033,740,328 - 33,740,770UniSTS


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 2068 2664 2128 3759 1638 2116 3 607 1280 457 2010 6175 5530 26 2779 692 1516 1437 156

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF105067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY344471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ028088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L42172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000217407   ⟹   ENSP00000217407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,346,482 - 38,377,013 (+)Ensembl
RefSeq Acc Id: NM_004139   ⟹   NP_004130
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,346,482 - 38,377,013 (+)NCBI
GRCh372036,974,814 - 37,005,653 (+)NCBI
Build 362036,408,299 - 36,439,067 (+)NCBI Archive
HuRef2033,709,729 - 33,740,760 (+)NCBI
CHM1_12036,878,602 - 36,909,384 (+)NCBI
T2T-CHM13v2.02040,072,800 - 40,104,597 (+)NCBI
Sequence:
RefSeq Acc Id: NP_004130   ⟸   NM_004139
- Peptide Label: precursor
- UniProtKB: Q9H403 (UniProtKB/Swiss-Prot),   Q92672 (UniProtKB/Swiss-Prot),   O43438 (UniProtKB/Swiss-Prot),   B2R938 (UniProtKB/Swiss-Prot),   Q9UD66 (UniProtKB/Swiss-Prot),   P18428 (UniProtKB/Swiss-Prot),   Q8TCF0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000217407   ⟸   ENST00000217407
Protein Domains
Lipid-binding serum glycoprotein C-terminal   Lipid-binding serum glycoprotein N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P18428-F1-model_v2 AlphaFold P18428 1-481 view protein structure

Promoters
RGD ID:13206915
Promoter ID:EPDNEW_H27038
Type:multiple initiation site
Name:LBP_1
Description:lipopolysaccharide binding protein
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
GRCh382038,346,482 - 38,346,542EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6517 AgrOrtholog
COSMIC LBP COSMIC
Ensembl Genes ENSG00000129988 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000217407 ENTREZGENE
  ENST00000217407.3 UniProtKB/Swiss-Prot
Gene3D-CATH Bactericidal permeability-increasing protein, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bactericidal permeability-increasing protein, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129988 GTEx
HGNC ID HGNC:6517 ENTREZGENE
Human Proteome Map LBP Human Proteome Map
InterPro Bactericidal_perm-incr_a/b_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPI/LBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPI/LBP/Plunc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipid-bd_serum_glycop_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipid-bd_serum_glycop_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipid-bd_serum_glycop_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3929 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3929 ENTREZGENE
OMIM 151990 OMIM
PANTHER PTHR10504 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10504:SF66 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LBP_BPI_CETP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LBP_BPI_CETP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30303 PharmGKB
PIRSF Lipid_binding_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LBP_BPI_CETP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BPI1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPI2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55394 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R938 ENTREZGENE
  LBP_HUMAN UniProtKB/Swiss-Prot
  O43438 ENTREZGENE
  P18428 ENTREZGENE
  Q8TCF0 ENTREZGENE, UniProtKB/TrEMBL
  Q92672 ENTREZGENE
  Q9H403 ENTREZGENE
  Q9UD66 ENTREZGENE
UniProt Secondary B2R938 UniProtKB/Swiss-Prot
  O43438 UniProtKB/Swiss-Prot
  Q92672 UniProtKB/Swiss-Prot
  Q9H403 UniProtKB/Swiss-Prot
  Q9UD66 UniProtKB/Swiss-Prot