chr11:73689104:G>A Detail (hg19) (UCP2)

Information

Genome

Assembly Position
hg19 chr11:73,689,104-73,689,104
hg38 chr11:73,978,059-73,978,059 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003355.2:c.164C>T NP_003346.2:p.Ala55Val
Ensemble ENST00000663595.2:c.164C>T ENST00000663595.2:p.Ala55Val
ENST00000310473.9:c.164C>T ENST00000310473.9:p.Ala55Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.473
ToMMo:0.492
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.403

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601693 OMIM
HGNC 12518 HGNC
Ensembl ENSG00000175567 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43182795 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.231 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.343 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.440 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.335 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.223 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.439 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.309 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.109 Diabetes Mellitus, Non-Insulin-Dependent UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with typ... BeFree 21751002 Detail
0.223 obesity In our case-control study we were not able to demonstrate any association betwee... BeFree 24752406 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3... BeFree 23365654 Detail
0.020 Diabetes Mellitus, Non-Insulin-Dependent Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3... BeFree 23365654 Detail
0.309 obesity In our case-control study we were not able to demonstrate any association betwee... BeFree 24752406 Detail
<0.001 obesity But neither the UCP2 Ala55Val nor the UCP3 -55C/T polymorphism showed any signif... BeFree 23560041 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with typ... BeFree 21751002 Detail
0.309 obesity UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity... BeFree 23560041 Detail
0.223 obesity UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity... BeFree 23560041 Detail
0.109 Diabetes Mellitus, Non-Insulin-Dependent Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3... BeFree 23365654 Detail
0.231 obesity UCP2 A55V variant might predispose to obesity and Val55 allele to confer populat... BeFree 17502873 Detail
<0.001 diabetic retinopathy Recently, our group reported that the -866A/55Val/Ins haplotype (-866G/A, Ala55V... BeFree 22134120 Detail
0.002 Glucose Metabolism Disorders [Our results suggest that combining genetic markers with traditional clinical ri... GAD 20384434 Detail
0.008 Cardiovascular Diseases UCP2 (uncoupling protein 2) plays an important role in cardiovascular diseases a... BeFree 23537071 Detail
0.223 obesity We conclude that genetic variability in the human UCP2 gene is not a common fact... BeFree 9349606 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent Lack of association of functional UCP2 -866G/A and Ala55Val polymorphisms and ty... BeFree 24065674 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent We conclude that genetic variability in the human UCP2 gene is not a common fact... BeFree 9349606 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent [Our results suggest that combining genetic markers with traditional clinical ri... GAD 20384434 Detail
0.012 Overweight UCP2 V55V is also associated with higher fasting insulin levels than A55V (P=0.0... BeFree 17502873 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent the genotype (P = 0.00006) and the allele (P = 0.00007) frequencies of Ala55Val ... BeFree 21175267 Detail
0.003 Coronary Arteriosclerosis These findings support the hypothesis that A55V polymorphism is associated with ... BeFree 23537071 Detail
0.223 obesity UCP2 A55V variant is associated with obesity and related phenotypes in an aborig... BeFree 17502873 Detail
0.006 Coronary heart disease These findings support the hypothesis that A55V polymorphism is associated with ... BeFree 23537071 Detail
0.011 Overweight UCP2 V55V is also associated with higher fasting insulin levels than A55V (P=0.0... BeFree 17502873 Detail
0.006 coronary artery disease These findings support the hypothesis that A55V polymorphism is associated with ... BeFree 23537071 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003355.3(UCP2):c.164C>T (p.Ala55Val) AND not specified ClinVar Detail
NM_003355.3(UCP2):c.164C>T (p.Ala55Val) AND not provided ClinVar Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with type 2 diabetes suscept... DisGeNET Detail
In our case-control study we were not able to demonstrate any association between UCP polymorphisms ... DisGeNET Detail
Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3 -55C/T polymorphism... DisGeNET Detail
Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3 -55C/T polymorphism... DisGeNET Detail
In our case-control study we were not able to demonstrate any association between UCP polymorphisms ... DisGeNET Detail
But neither the UCP2 Ala55Val nor the UCP3 -55C/T polymorphism showed any significant association wi... DisGeNET Detail
UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with type 2 diabetes suscept... DisGeNET Detail
UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity susceptibility - a ... DisGeNET Detail
UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity susceptibility - a ... DisGeNET Detail
Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3 -55C/T polymorphism... DisGeNET Detail
UCP2 A55V variant might predispose to obesity and Val55 allele to confer population-attributable ris... DisGeNET Detail
Recently, our group reported that the -866A/55Val/Ins haplotype (-866G/A, Ala55Val and Ins/Del polym... DisGeNET Detail
[Our results suggest that combining genetic markers with traditional clinical risk factors has the p... DisGeNET Detail
UCP2 (uncoupling protein 2) plays an important role in cardiovascular diseases and recent studies ha... DisGeNET Detail
We conclude that genetic variability in the human UCP2 gene is not a common factor contributing to N... DisGeNET Detail
Lack of association of functional UCP2 -866G/A and Ala55Val polymorphisms and type 2 diabetes in the... DisGeNET Detail
We conclude that genetic variability in the human UCP2 gene is not a common factor contributing to N... DisGeNET Detail
[Our results suggest that combining genetic markers with traditional clinical risk factors has the p... DisGeNET Detail
UCP2 V55V is also associated with higher fasting insulin levels than A55V (P=0.01) and A55A (P=0.04)... DisGeNET Detail
the genotype (P = 0.00006) and the allele (P = 0.00007) frequencies of Ala55Val of the UCP2 gene sho... DisGeNET Detail
These findings support the hypothesis that A55V polymorphism is associated with UCP2 functional alte... DisGeNET Detail
UCP2 A55V variant is associated with obesity and related phenotypes in an aboriginal community in Ta... DisGeNET Detail
These findings support the hypothesis that A55V polymorphism is associated with UCP2 functional alte... DisGeNET Detail
UCP2 V55V is also associated with higher fasting insulin levels than A55V (P=0.01) and A55A (P=0.04)... DisGeNET Detail
These findings support the hypothesis that A55V polymorphism is associated with UCP2 functional alte... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs660339 dbSNP
Genome
hg19
Position
chr11:73,689,104-73,689,104
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
83.49
Standard deviation of sample read depth (HGVD)
39.34
Number of reference allele (HGVD)
1276
Number of alternative allele (HGVD)
1144
Allele Frequency (HGVD)
0.4727272727272727
Gene Symbol (HGVD)
UCP2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs660339
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4918
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8242
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
3471
East Asian Heterozygous Counts (ExAC)
2039
East Asian Homozygous Counts (ExAC)
716
East Asian Allele Frequency (ExAC)
0.4029486881820293
Chromosome Counts in All Race (ExAC)
120962
Allele Counts in All Race (ExAC)
49751
Heterozygous Counts in All Race (ExAC)
28853
Homozygous Counts in All Race (ExAC)
10449
Allele Frequency in All Race (ExAC)
0.41129445611018334
Genome browser