VEGFB (vascular endothelial growth factor B) - Rat Genome Database

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Gene: VEGFB (vascular endothelial growth factor B) Homo sapiens
Analyze
Symbol: VEGFB
Name: vascular endothelial growth factor B
RGD ID: 1343221
HGNC Page HGNC
Description: Enables chemoattractant activity and vascular endothelial growth factor receptor 1 binding activity. Involved in several processes, including positive regulation of chemotaxis; positive regulation of signal transduction; and positive regulation of vascular wound healing. Located in extracellular space. Implicated in myocardial infarction and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: VEGF-B; VEGF-related factor; VEGFL; VRF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381164,234,584 - 64,239,264 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1164,234,584 - 64,239,264 (+)EnsemblGRCh38hg38GRCh38
GRCh371164,002,056 - 64,006,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361163,758,842 - 63,762,835 (+)NCBINCBI36hg18NCBI36
Build 341163,758,841 - 63,762,834NCBI
Celera1161,312,403 - 61,333,143 (+)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1160,330,131 - 60,334,631 (+)NCBIHuRef
CHM1_11163,885,273 - 63,889,739 (+)NCBICHM1_1
T2T-CHM13v2.01164,224,529 - 64,229,291 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
all-trans-retinoic acid  (EXP)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
bortezomib  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dieldrin  (ISO)
dioxygen  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
fipronil  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
leflunomide  (ISO)
metformin  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenytoin  (EXP)
pioglitazone  (EXP)
pirinixic acid  (EXP,ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
sildenafil citrate  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8637916   PMID:8702615   PMID:8889548   PMID:8919691   PMID:9365524   PMID:9684805   PMID:9751730   PMID:10409677   PMID:11122379   PMID:12366396   PMID:12477932   PMID:12652295  
PMID:12881472   PMID:15009103   PMID:15489334   PMID:15857508   PMID:16109918   PMID:16570043   PMID:16616187   PMID:16839256   PMID:17082651   PMID:18259607   PMID:18317782   PMID:18511699  
PMID:18537151   PMID:18564921   PMID:18757827   PMID:18930733   PMID:19275959   PMID:19424629   PMID:19483306   PMID:19910455   PMID:19913121   PMID:19948975   PMID:20223440   PMID:20228789  
PMID:20308035   PMID:20452482   PMID:20501651   PMID:20628086   PMID:20673868   PMID:21636803   PMID:21873635   PMID:22172722   PMID:22872519   PMID:23301033   PMID:23350126   PMID:23417498  
PMID:23444216   PMID:23553333   PMID:23697367   PMID:23728940   PMID:24145997   PMID:24374930   PMID:24561123   PMID:24987005   PMID:24987705   PMID:25001655   PMID:25241761   PMID:25416956  
PMID:25424698   PMID:25435370   PMID:25633991   PMID:25977072   PMID:26186194   PMID:26387747   PMID:26422603   PMID:27588416   PMID:28190774   PMID:28514442   PMID:28523459   PMID:28798193  
PMID:29969324   PMID:30420902   PMID:32296183   PMID:32499505   PMID:32754268   PMID:33856262   PMID:33961781   PMID:34301821   PMID:34647407   PMID:35399943  


Genomics

Comparative Map Data
VEGFB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381164,234,584 - 64,239,264 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1164,234,584 - 64,239,264 (+)EnsemblGRCh38hg38GRCh38
GRCh371164,002,056 - 64,006,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361163,758,842 - 63,762,835 (+)NCBINCBI36hg18NCBI36
Build 341163,758,841 - 63,762,834NCBI
Celera1161,312,403 - 61,333,143 (+)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1160,330,131 - 60,334,631 (+)NCBIHuRef
CHM1_11163,885,273 - 63,889,739 (+)NCBICHM1_1
T2T-CHM13v2.01164,224,529 - 64,229,291 (+)NCBI
Vegfb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39196,959,840 - 6,965,019 (-)NCBIGRCm39mm39
GRCm39 Ensembl196,959,841 - 6,965,019 (-)Ensembl
GRCm38196,982,472 - 6,987,651 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl196,982,473 - 6,987,651 (-)EnsemblGRCm38mm10GRCm38
MGSCv37197,056,962 - 7,062,141 (-)NCBIGRCm37mm9NCBIm37
MGSCv36197,049,516 - 7,054,647 (-)NCBImm8
Celera196,759,390 - 6,764,564 (-)NCBICelera
Cytogenetic Map19ANCBI
Vegfb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21204,172,297 - 204,178,046 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1204,172,225 - 204,177,944 (-)Ensembl
Rnor_6.01222,237,000 - 222,242,786 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1222,239,022 - 222,242,644 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01229,227,775 - 229,233,462 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41209,657,632 - 209,661,271 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11209,817,216 - 209,818,528 (-)NCBI
Celera1201,707,924 - 201,711,395 (-)NCBICelera
Cytogenetic Map1q43NCBI
Vegfb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542220,840,055 - 20,843,225 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542220,840,055 - 20,843,182 (-)NCBIChiLan1.0ChiLan1.0
VEGFB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v01159,591,750 - 59,595,926 (+)NCBIMhudiblu_PPA_v0panPan3
VEGFB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11852,821,348 - 52,824,649 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1852,821,365 - 52,824,655 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1851,428,177 - 51,431,373 (-)NCBI
ROS_Cfam_1.01853,866,506 - 53,869,702 (-)NCBI
UMICH_Zoey_3.11852,969,350 - 52,972,544 (-)NCBI
UNSW_CanFamBas_1.01852,544,911 - 52,548,106 (-)NCBI
UU_Cfam_GSD_1.01853,328,822 - 53,332,018 (-)NCBI
Vegfb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049478,520,812 - 8,523,909 (-)NCBI
SpeTri2.0NW_0049365994,963,161 - 4,966,258 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VEGFB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.127,872,873 - 7,876,149 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.226,939,765 - 6,943,006 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VEGFB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.119,997,820 - 10,001,518 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl19,997,665 - 10,001,429 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038107,336,571 - 107,340,450 (-)NCBIVero_WHO_p1.0
Vegfb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476722,068,107 - 22,071,491 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462476722,068,107 - 22,071,731 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH79811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,001,459 - 64,001,710UniSTSGRCh37
Build 361163,758,035 - 63,758,286RGDNCBI36
Celera1161,328,310 - 61,328,561RGD
Cytogenetic Map11q13UniSTS
RH27714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,004,514 - 64,004,618UniSTSGRCh37
GRCh371164,004,148 - 64,004,618UniSTSGRCh37
Build 361163,760,724 - 63,761,194RGDNCBI36
Celera1161,331,414 - 61,331,502UniSTS
Celera1161,331,059 - 61,331,502RGD
Cytogenetic Map11q13UniSTS
HuRef1160,332,057 - 60,332,513UniSTS
HuRef1160,332,425 - 60,332,513UniSTS
SHGC-82715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,000,045 - 64,000,343UniSTSGRCh37
Build 361163,756,621 - 63,756,919RGDNCBI36
Celera1161,326,896 - 61,327,194RGD
Cytogenetic Map11q13UniSTS
HuRef1160,327,936 - 60,328,234UniSTS
TNG Radiation Hybrid Map1127910.0UniSTS
VEGFB_2536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,005,851 - 64,006,430UniSTSGRCh37
Build 361163,762,427 - 63,763,006RGDNCBI36
Celera1161,332,735 - 61,333,314RGD
HuRef1160,333,746 - 60,334,325UniSTS
WI-14122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371164,006,129 - 64,006,254UniSTSGRCh37
Build 361163,762,705 - 63,762,830RGDNCBI36
Celera1161,333,013 - 61,333,138RGD
Cytogenetic Map11q13UniSTS
HuRef1160,334,024 - 60,334,149UniSTS
GeneMap99-GB4 RH Map11249.35UniSTS
Whitehead-RH Map11326.6UniSTS
NCBI RH Map11573.2UniSTS
WI-16915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,991,139 - 63,991,263UniSTSGRCh37
Build 361163,747,715 - 63,747,839RGDNCBI36
Celera1161,317,981 - 61,318,105RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1160,319,191 - 60,319,315UniSTS
GeneMap99-GB4 RH Map11248.07UniSTS
Whitehead-RH Map11336.2UniSTS
G33073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,987,957 - 63,988,070UniSTSGRCh37
Build 361163,744,533 - 63,744,646RGDNCBI36
Celera1161,314,803 - 61,314,916RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1160,316,015 - 60,316,128UniSTS
RH41986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,991,402 - 63,991,643UniSTSGRCh37
Build 361163,747,978 - 63,748,219RGDNCBI36
Celera1161,318,244 - 61,318,485RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1160,319,454 - 60,319,695UniSTS
GeneMap99-GB4 RH Map11238.23UniSTS
NCBI RH Map11573.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:921
Count of miRNA genes:519
Interacting mature miRNAs:568
Transcripts:ENST00000309422, ENST00000426086, ENST00000541681, ENST00000543462
Prediction methods:Microtar, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3
Medium 2429 2745 1697 598 1696 439 4356 2192 3708 417 1448 1608 172 1 1204 2788 3 1
Low 10 246 29 26 255 26 1 5 26 2 8 5 3 2 1
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF468110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG031449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM694361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU730521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS067228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS367408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX512460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000309422   ⟹   ENSP00000311127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1164,234,584 - 64,239,264 (+)Ensembl
RefSeq Acc Id: ENST00000426086   ⟹   ENSP00000401550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1164,234,584 - 64,239,264 (+)Ensembl
RefSeq Acc Id: ENST00000541681   ⟹   ENSP00000442526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1164,237,536 - 64,237,901 (+)Ensembl
RefSeq Acc Id: ENST00000543462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1164,237,127 - 64,238,787 (+)Ensembl
RefSeq Acc Id: NM_001243733   ⟹   NP_001230662
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,234,584 - 64,239,264 (+)NCBI
GRCh371164,002,056 - 64,006,736 (+)NCBI
HuRef1160,330,131 - 60,334,631 (+)NCBI
CHM1_11163,885,273 - 63,889,739 (+)NCBI
T2T-CHM13v2.01164,224,529 - 64,229,291 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003377   ⟹   NP_003368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,234,584 - 64,239,264 (+)NCBI
GRCh371164,002,056 - 64,006,736 (+)NCBI
Build 361163,758,842 - 63,762,835 (+)NCBI Archive
HuRef1160,330,131 - 60,334,631 (+)NCBI
CHM1_11163,885,273 - 63,889,739 (+)NCBI
T2T-CHM13v2.01164,224,529 - 64,229,291 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003368   ⟸   NM_003377
- Peptide Label: isoform VEGFB-186 precursor
- UniProtKB: P49765 (UniProtKB/Swiss-Prot),   Q7LAP4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230662   ⟸   NM_001243733
- Peptide Label: isoform VEGFB-167 precursor
- UniProtKB: P49765 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000442526   ⟸   ENST00000541681
RefSeq Acc Id: ENSP00000401550   ⟸   ENST00000426086
RefSeq Acc Id: ENSP00000311127   ⟸   ENST00000309422
Protein Domains
PDGF_2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49765-F1-model_v2 AlphaFold P49765 1-207 view protein structure

Promoters
RGD ID:6789577
Promoter ID:HG_KWN:13197
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003377,   UC001NYX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361163,758,236 - 63,759,162 (+)MPROMDB
RGD ID:7220833
Promoter ID:EPDNEW_H16162
Type:initiation region
Name:VEGFB_1
Description:vascular endothelial growth factor B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16163  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,234,584 - 64,234,644EPDNEW
RGD ID:7220835
Promoter ID:EPDNEW_H16163
Type:initiation region
Name:VEGFB_2
Description:vascular endothelial growth factor B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16162  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,234,828 - 64,234,888EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001128612.2(NUDT22):c.820T>C (p.Ser274Pro) single nucleotide variant Malignant melanoma [RCV000069586] Chr11:64229898 [GRCh38]
Chr11:63997370 [GRCh37]
Chr11:63753946 [NCBI36]
Chr11:11q13.1
not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1 copy number loss See cases [RCV000140879] Chr11:62893226..64335043 [GRCh38]
Chr11:62660698..64102515 [GRCh37]
Chr11:62417274..63859091 [NCBI36]
Chr11:11q12.3-13.1
likely pathogenic
GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3 copy number gain Ductal breast carcinoma [RCV000207269] Chr11:63995089..64012419 [GRCh37]
Chr11:11q13.1
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.1(chr11:63994510-64005097)x3 copy number gain not provided [RCV000750076] Chr11:63994510..64005097 [GRCh37]
Chr11:11q13.1
benign
NM_003377.5(VEGFB):c.616G>A (p.Gly206Arg) single nucleotide variant not provided [RCV000891527] Chr11:64237625 [GRCh38]
Chr11:64005097 [GRCh37]
Chr11:11q13.1
benign
NM_003377.5(VEGFB):c.408C>T (p.Asp136=) single nucleotide variant not provided [RCV000948384] Chr11:64237220 [GRCh38]
Chr11:64004692 [GRCh37]
Chr11:11q13.1
benign
dup(11)(q13.1q13.1) duplication Ependymoma [RCV000785872] Chr11:63533279..65429676 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_003377.5(VEGFB):c.443G>A (p.Arg148His) single nucleotide variant not provided [RCV000968217] Chr11:64237452 [GRCh38]
Chr11:64004924 [GRCh37]
Chr11:11q13.1
benign
NM_003377.5(VEGFB):c.147C>T (p.Pro49=) single nucleotide variant not provided [RCV000953291] Chr11:64235856 [GRCh38]
Chr11:64003328 [GRCh37]
Chr11:11q13.1
benign
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12681 AgrOrtholog
COSMIC VEGFB COSMIC
Ensembl Genes ENSG00000173511 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000311127 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401550 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442526 UniProtKB/TrEMBL
Ensembl Transcript ENST00000309422 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000426086 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000541681 UniProtKB/TrEMBL
Gene3D-CATH 2.10.160.10 UniProtKB/TrEMBL
  2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173511 GTEx
HGNC ID HGNC:12681 ENTREZGENE
Human Proteome Map VEGFB Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PD_growth_factor_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDGF/VEGF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VEGF_C_sf UniProtKB/TrEMBL
KEGG Report hsa:7423 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7423 ENTREZGENE
OMIM 601398 OMIM
Pfam PDGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37303 PharmGKB
PROSITE PDGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57593 UniProtKB/TrEMBL
UniProt H0YGB6_HUMAN UniProtKB/TrEMBL
  P49765 ENTREZGENE
  Q7LAP4 ENTREZGENE, UniProtKB/TrEMBL
  Q8TEV2_HUMAN UniProtKB/TrEMBL
  VEGFB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q16528 UniProtKB/Swiss-Prot