chr4:119320747:T>G Detail (hg38) (FABP2)

Information

Genome

Assembly Position
hg19 chr4:120,241,902-120,241,902 View the variant detail on this assembly version.
hg38 chr4:119,320,747-119,320,747

HGVS

Type Transcript Protein
RefSeq NM_000134.3:c.163A>C NP_000125.2:p.Thr55Pro
Ensemble ENST00000274024.4:c.163A>C ENST00000274024.4:p.Thr55Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 134640 OMIM
HGNC 3556 HGNC
Ensembl ENSG00000145384 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.101 Metabolic syndrome X AGT T174M, GNB3 825C>T, and APOC3 -455T>C genotypes were significantly ass... BeFree 15869758 Detail
0.035 obesity To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr po... BeFree 22817827 Detail
<0.001 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.006 Cerebrovascular accident The aim of this study was to investigate whether the A54T polymorphism in the FA... BeFree 16013194 Detail
0.125 Hyperlipidemia In conclusion, no major difference was associated with the beta3AR Trp64Arg or F... BeFree 11699048 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent A54T polymorphism in the fatty acid binding protein 2 studies in a Saudi populat... BeFree 24690233 Detail
0.035 obesity Influence of ALA54THR polymorphism of fatty acid-binding protein 2 on obesity an... BeFree 17992640 Detail
0.008 Dyslipidemias Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorph... BeFree 15547295 Detail
0.002 Diabetes FABP2 Ala54Thr polymorphism and diabetes in Chilean elders. BeFree 17292994 Detail
<0.001 Kidney Diseases The fatty acid-binding protein-2 A54T polymorphism is associated with renal dise... BeFree 16249461 Detail
<0.001 Insulin resistance syndrome Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorph... BeFree 15547295 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent The Ala54Thr polymorphism of the FABP2 gene influences the postprandial fatty ac... BeFree 20484485 Detail
0.005 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 atherosclerosis The FABP2 A54T missense mutation may contribute to the TG enrichment of HDL in t... BeFree 11707533 Detail
0.035 obesity (1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respect... BeFree 11593593 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent Association between FABP2 Ala54Thr polymorphisms and type 2 diabetes mellitus ri... BeFree 25388378 Detail
0.463 Hypercholesterolemia, Familial We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T... BeFree 15135251 Detail
0.440 obesity Fatty acid-binding protein 2 Ala54Thr genotype is associated with insulin resist... BeFree 23817228 Detail
0.035 obesity The fatty acid binding protein 2 (FABP2) polymorphism Ala54Thr and obesity in Pa... BeFree 26238699 Detail
0.003 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
<0.001 Overweight To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr po... BeFree 22817827 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent To explore this we assessed the frequency of the FABP2 Ala54Thr polymorphism, ob... BeFree 12855223 Detail
0.079 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, no major difference was associated with the beta3AR Trp64Arg or F... BeFree 11699048 Detail
0.011 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.129 diabetes mellitus The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.006 Diabetes The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.035 obesity Preliminary evidence of FABP2 A54T polymorphism associated with reduced risk of ... BeFree 16718632 Detail
0.035 obesity Effects of the FABP2 A54T mutation on triglyceride metabolism of viscerally obes... BeFree 11707533 Detail
0.035 obesity Fatty acid-binding protein 2 Ala54Thr genotype is associated with insulin resist... BeFree 23817228 Detail
0.005 Metabolic syndrome X Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorph... BeFree 15547295 Detail
0.006 Cerebrovascular accident Genotypes for these polymorphisms, especially for the 2445G--&gt;A (Ala54Thr) po... BeFree 18506375 Detail
0.115 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.008 Dyslipidemias The results from the published studies on the association of fatty acid-binding ... BeFree 20047744 Detail
0.008 Dyslipidemias No association found between the Ala54Thr polymorphism of FABP2 gene and obesity... BeFree 11866034 Detail
0.017 Metabolic syndrome X AGT T174M, GNB3 825C&gt;T, and APOC3 -455T&gt;C genotypes were significantly ass... BeFree 15869758 Detail
0.089 Metabolic syndrome X AGT T174M, GNB3 825C&gt;T, and APOC3 -455T&gt;C genotypes were significantly ass... BeFree 15869758 Detail
0.005 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent Preliminary evidence of FABP2 A54T polymorphism associated with reduced risk of ... BeFree 16718632 Detail
0.002 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.017 Metabolic syndrome X Thr54 allele carriers of the Ala54Thr variant of FABP2 gene have associations wi... BeFree 16919542 Detail
0.003 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 diabetes mellitus The Ala54Thr polymorphism of FABP2 gene increases affinity of intestinal fatty a... BeFree 20484485 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent Studies on the association of fatty acid-binding protein 2 (FABP2) A54T and prom... BeFree 17512303 Detail
<0.001 Impaired glucose tolerance (1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respect... BeFree 11593593 Detail
0.002 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 obesity A missense mutation (A54T) in the fatty acid binding protein type 2 (FABP2) gene... BeFree 11707533 Detail
0.007 Dyslipidemias Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorph... BeFree 15547295 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent The fatty acid-binding protein-2 A54T polymorphism is associated with renal dise... BeFree 16249461 Detail
0.143 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 Diabetes The Ala54Thr polymorphism of FABP2 gene increases affinity of intestinal fatty a... BeFree 20484485 Detail
0.005 Carotid Atherosclerosis The objective of the present study was to investigate the role of ADMA and the F... BeFree 17212611 Detail
0.002 Diabetes The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, no major difference was associated with the beta3AR Trp64Arg or F... BeFree 11699048 Detail
0.122 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 cerebral infarction No significant difference in Ala54Thr genotypic distribution of FABP2 was observ... BeFree 25262933 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent To investigate whether or not the intestinal fatty acid binding protein gene (FA... BeFree 11593593 Detail
0.035 obesity No association found between the Ala54Thr polymorphism of FABP2 gene and obesity... BeFree 11866034 Detail
0.035 obesity Intestinal FABP2 A54T polymorphism: association with insulin resistance and obes... BeFree 14981227 Detail
0.002 diabetes mellitus FABP2 Ala54Thr polymorphism and diabetes in Chilean elders. BeFree 17292994 Detail
0.005 Obesity, Morbid To investigate whether the Ala54Thr polymorphism of the fatty acid binding prote... BeFree 11866034 Detail
<0.001 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
<0.001 Hyperlipidemia In conclusion, no major difference was associated with the beta3AR Trp64Arg or F... BeFree 11699048 Detail
0.124 Hypercholesterolemia, Familial We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T... BeFree 15135251 Detail
0.009 Metabolic syndrome X AGT T174M, GNB3 825C&gt;T, and APOC3 -455T&gt;C genotypes were significantly ass... BeFree 15869758 Detail
<0.001 Hypercholesterolemia, Familial We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T... BeFree 15135251 Detail
0.049 Diabetes Mellitus, Non-Insulin-Dependent Influence of Ala54Thr polymorphism of fatty acid-binding protein 2 on insulin re... BeFree 20329566 Detail
0.035 obesity Influence of ALA54THR polymorphism of fatty acid binding protein 2 on lifestyle ... BeFree 16809903 Detail
0.002 diabetes mellitus The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.006 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.035 obesity Effect of fatty acid-binding protein 2 Ala54Thr genotype on weight loss and card... BeFree 23072901 Detail
0.015 Cardiovascular Diseases Our results suggest that A54T polymorphism of the FABP2 gene is associated with ... BeFree 17907115 Detail
<0.001 Overweight To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr po... BeFree 22817827 Detail
0.003 obesity To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr po... BeFree 22817827 Detail
0.003 cerebral infarction Genotypes for these polymorphisms, especially for the 2445G--&gt;A (Ala54Thr) po... BeFree 18506375 Detail
0.015 Cardiovascular Diseases Therefore, we aimed to test the hypotheses that in MDD-patients the FABP2 Ala54T... BeFree 24340071 Detail
0.143 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.035 obesity Metabolic syndrome and ALA54THR polymorphism of fatty acid-binding protein 2 in ... BeFree 20723947 Detail
<0.001 Hashimoto Disease We analyzed the associations of seven polymorphisms of genes involved in lipid m... BeFree 25587205 Detail
Annotation

Annotations

DescrptionSourceLinks
AGT T174M, GNB3 825C&gt;T, and APOC3 -455T&gt;C genotypes were significantly associated with MetS (P... DisGeNET Detail
To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr polymorphism on anthro... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The aim of this study was to investigate whether the A54T polymorphism in the FABP2 gene is associat... DisGeNET Detail
In conclusion, no major difference was associated with the beta3AR Trp64Arg or FABP2 Ala54Thr polymo... DisGeNET Detail
A54T polymorphism in the fatty acid binding protein 2 studies in a Saudi population with type 2 diab... DisGeNET Detail
Influence of ALA54THR polymorphism of fatty acid-binding protein 2 on obesity and cardiovascular ris... DisGeNET Detail
Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorphisms are associated ... DisGeNET Detail
FABP2 Ala54Thr polymorphism and diabetes in Chilean elders. DisGeNET Detail
The fatty acid-binding protein-2 A54T polymorphism is associated with renal disease in patients with... DisGeNET Detail
Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorphisms are associated ... DisGeNET Detail
The Ala54Thr polymorphism of the FABP2 gene influences the postprandial fatty acids in patients with... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The FABP2 A54T missense mutation may contribute to the TG enrichment of HDL in the postprandial stat... DisGeNET Detail
(1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respectively; (2) The FABP2... DisGeNET Detail
Association between FABP2 Ala54Thr polymorphisms and type 2 diabetes mellitus risk: a HuGE Review an... DisGeNET Detail
We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and... DisGeNET Detail
Fatty acid-binding protein 2 Ala54Thr genotype is associated with insulin resistance and leptin leve... DisGeNET Detail
The fatty acid binding protein 2 (FABP2) polymorphism Ala54Thr and obesity in Pakistan: A population... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr polymorphism on anthro... DisGeNET Detail
To explore this we assessed the frequency of the FABP2 Ala54Thr polymorphism, obesity, and Type II d... DisGeNET Detail
In conclusion, no major difference was associated with the beta3AR Trp64Arg or FABP2 Ala54Thr polymo... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
Preliminary evidence of FABP2 A54T polymorphism associated with reduced risk of type 2 diabetes and ... DisGeNET Detail
Effects of the FABP2 A54T mutation on triglyceride metabolism of viscerally obese men. DisGeNET Detail
Fatty acid-binding protein 2 Ala54Thr genotype is associated with insulin resistance and leptin leve... DisGeNET Detail
Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorphisms are associated ... DisGeNET Detail
Genotypes for these polymorphisms, especially for the 2445G--&gt;A (Ala54Thr) polymorphism of FABP2,... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The results from the published studies on the association of fatty acid-binding protein 2 (FABP2) Al... DisGeNET Detail
No association found between the Ala54Thr polymorphism of FABP2 gene and obesity and obesity with dy... DisGeNET Detail
AGT T174M, GNB3 825C&gt;T, and APOC3 -455T&gt;C genotypes were significantly associated with MetS (P... DisGeNET Detail
AGT T174M, GNB3 825C&gt;T, and APOC3 -455T&gt;C genotypes were significantly associated with MetS (P... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
Preliminary evidence of FABP2 A54T polymorphism associated with reduced risk of type 2 diabetes and ... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
Thr54 allele carriers of the Ala54Thr variant of FABP2 gene have associations with metabolic syndrom... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Ala54Thr polymorphism of FABP2 gene increases affinity of intestinal fatty acid-binding protein ... DisGeNET Detail
Studies on the association of fatty acid-binding protein 2 (FABP2) A54T and promoter polymorphism, a... DisGeNET Detail
(1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respectively; (2) The FABP2... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
A missense mutation (A54T) in the fatty acid binding protein type 2 (FABP2) gene has been associated... DisGeNET Detail
Our objectives were to determine whether Ala54Thr FABP2 and G-493T MTP polymorphisms are associated ... DisGeNET Detail
The fatty acid-binding protein-2 A54T polymorphism is associated with renal disease in patients with... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Ala54Thr polymorphism of FABP2 gene increases affinity of intestinal fatty acid-binding protein ... DisGeNET Detail
The objective of the present study was to investigate the role of ADMA and the FABP2 A54T polymorphi... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
In conclusion, no major difference was associated with the beta3AR Trp64Arg or FABP2 Ala54Thr polymo... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
No significant difference in Ala54Thr genotypic distribution of FABP2 was observed between stroke gr... DisGeNET Detail
To investigate whether or not the intestinal fatty acid binding protein gene (FABP2)-Ala54Thr variat... DisGeNET Detail
No association found between the Ala54Thr polymorphism of FABP2 gene and obesity and obesity with dy... DisGeNET Detail
Intestinal FABP2 A54T polymorphism: association with insulin resistance and obesity in women. DisGeNET Detail
FABP2 Ala54Thr polymorphism and diabetes in Chilean elders. DisGeNET Detail
To investigate whether the Ala54Thr polymorphism of the fatty acid binding protein 2 gene is associa... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
In conclusion, no major difference was associated with the beta3AR Trp64Arg or FABP2 Ala54Thr polymo... DisGeNET Detail
We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and... DisGeNET Detail
AGT T174M, GNB3 825C&gt;T, and APOC3 -455T&gt;C genotypes were significantly associated with MetS (P... DisGeNET Detail
We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and... DisGeNET Detail
Influence of Ala54Thr polymorphism of fatty acid-binding protein 2 on insulin resistance and adipocy... DisGeNET Detail
Influence of ALA54THR polymorphism of fatty acid binding protein 2 on lifestyle modification respons... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
Effect of fatty acid-binding protein 2 Ala54Thr genotype on weight loss and cardiovascular risk fact... DisGeNET Detail
Our results suggest that A54T polymorphism of the FABP2 gene is associated with cardiovascular disea... DisGeNET Detail
To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr polymorphism on anthro... DisGeNET Detail
To analyze the effect of the fatty acid-binding protein (FABP2) gene Ala54Thr polymorphism on anthro... DisGeNET Detail
Genotypes for these polymorphisms, especially for the 2445G--&gt;A (Ala54Thr) polymorphism of FABP2,... DisGeNET Detail
Therefore, we aimed to test the hypotheses that in MDD-patients the FABP2 Ala54Thr-polymorphism woul... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
Metabolic syndrome and ALA54THR polymorphism of fatty acid-binding protein 2 in obese patients. DisGeNET Detail
We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3... 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
rs1799883 dbSNP
Genome
hg38
Position
chr4:119,320,747-119,320,747
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser