FABP2 (fatty acid binding protein 2) - Rat Genome Database

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Gene: FABP2 (fatty acid binding protein 2) Homo sapiens
Analyze
Symbol: FABP2
Name: fatty acid binding protein 2
RGD ID: 735842
HGNC Page HGNC:3556
Description: Enables long-chain fatty acid binding activity. Involved in intestinal lipid absorption. Predicted to be located in apical cortex and microvillus. Predicted to be active in cytosol and nucleus. Implicated in alcoholic liver cirrhosis; carotid stenosis; coronary artery disease; end stage renal disease; and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FABPI; fatty acid binding protein 1; fatty acid binding protein 2, intestinal; fatty acid-binding protein 2; fatty acid-binding protein, intestinal; I-FABP; intestinal-type fatty acid-binding protein; MGC133132
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BW127_H  
Candidate Gene For: BW441_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384119,317,250 - 119,322,138 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4119,317,250 - 119,322,138 (-)EnsemblGRCh38hg38GRCh38
GRCh374120,238,405 - 120,243,293 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364120,457,853 - 120,462,766 (-)NCBINCBI36Build 36hg18NCBI36
Build 344120,596,008 - 120,600,921NCBI
Celera4117,600,001 - 117,604,911 (-)NCBICelera
Cytogenetic Map4q26NCBI
HuRef4115,960,235 - 115,965,143 (-)NCBIHuRef
CHM1_14120,214,972 - 120,219,883 (-)NCBICHM1_1
T2T-CHM13v2.04122,622,352 - 122,627,246 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
aflatoxin M1  (EXP)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
corn oil  (ISO)
cyclosporin A  (ISO)
decabromodiphenyl ether  (ISO)
dichlorine  (ISO)
diclofenac  (ISO)
difenoconazole  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
ferroheme b  (ISO)
folpet  (ISO)
furan  (ISO)
heme b  (ISO)
inulin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
metformin  (ISO)
microcystin-LR  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nordihydroguaiaretic acid  (ISO)
oleic acid  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propamocarb  (ISO)
propiconazole  (ISO)
rifaximin  (EXP)
rotenone  (ISO)
sodium dichromate  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
apical cortex  (IEA,ISO)
cytoplasm  (IEA)
cytosol  (IBA,TAS)
microvillus  (IEA,ISO)
nucleus  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Intestinal FABP2 A54T polymorphism: association with insulin resistance and obesity in women. Albala C, etal., Obes Res. 2004 Feb;12(2):340-5.
2. An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding, increased fat oxidation, and insulin resistance. Baier LJ, etal., J Clin Invest 1995 Mar;95(3):1281-7.
3. The fatty acid-binding protein-2 A54T polymorphism is associated with renal disease in patients with type 2 diabetes. Canani LH, etal., Diabetes. 2005 Nov;54(11):3326-30.
4. The T 54 allele of the intestinal fatty acid-binding protein 2 is associated with a parental history of stroke. Carlsson M, etal., J Clin Endocrinol Metab 2000 Aug;85(8):2801-4.
5. Codon-54 polymorphism of the fatty acid-binding protein 2 gene is associated with elevation of fasting and postprandial triglyceride in type 2 diabetes. Georgopoulos A, etal., J Clin Endocrinol Metab 2000 Sep;85(9):3155-60.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Variation of the fatty acid binding protein 2 gene is not associated with obesity and insulin resistance in Japanese subjects. Hayakawa T, etal., Metabolism. 1999 May;48(5):655-7.
8. Effects of intestinal fatty acid-binding protein gene Ala54Thr polymorphism and beta3-adrenergic receptor gene Trp64Arg polymorphism on insulin resistance and fasting plasma glucose in young to older Japanese men. Ishii T, etal., Metabolism. 2001 Nov;50(11):1301-7.
9. Comparison of the acute response to meals enriched with cis- or trans-fatty acids on glucose and lipids in overweight individuals with differing FABP2 genotypes. Lefevre M, etal., Metabolism. 2005 Dec;54(12):1652-8.
10. Lack of association between the fatty acid binding protein 2 (FABP2) polymorphism with obesity and insulin resistance in two aboriginal populations from Chile. Perez-Bravo F, etal., Acta Diabetol. 2006 Dec;43(4):93-8.
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. The role of FABP2 gene polymorphism in alcoholic cirrhosis. Salguero ML, etal., Hepatol Res. 2005 Nov 8;.
14. Thr54 allele of the FABP2 gene affects resting metabolic rate and visceral obesity. Takakura Y, etal., Diabetes Res Clin Pract. 2005 Jan;67(1):36-42.
15. Thr54 allele carriers of the Ala54Thr variant of FABP2 gene have associations with metabolic syndrome and hypertriglyceridemia in urban South Indians. Vimaleswaran KS, etal., Metabolism. 2006 Sep;55(9):1222-6.
16. Genetic variation of the intestinal fatty acid-binding protein 2 gene in carotid atherosclerosis. Wanby P, etal., Vasc Med. 2005 May;10(2):103-8.
17. Genetic risk for coronary artery disease in individuals with or without type 2 diabetes. Yamada Y, etal., Mol Genet Metab. 2004 Apr;81(4):282-90.
18. Effect of Creosote Bush-Derived NDGA on Expression of Genes Involved in Lipid Metabolism in Liver of High-Fructose Fed Rats: Relevance to NDGA Amelioration of Hypertriglyceridemia and Hepatic Steatosis. Zhang H, etal., PLoS One. 2015 Sep 22;10(9):e0138203. doi: 10.1371/journal.pone.0138203. eCollection 2015.
Additional References at PubMed
PMID:1740333   PMID:2193826   PMID:2263509   PMID:2824476   PMID:3838313   PMID:8401509   PMID:8454101   PMID:8954037   PMID:9204553   PMID:9250601   PMID:9806794   PMID:10070036  
PMID:10856711   PMID:11288045   PMID:11299043   PMID:11385507   PMID:11423496   PMID:11555846   PMID:11606480   PMID:11707533   PMID:11730822   PMID:11866034   PMID:12079887   PMID:12161503  
PMID:12189904   PMID:12370850   PMID:12377750   PMID:12477932   PMID:12634920   PMID:12691171   PMID:12809489   PMID:12855223   PMID:12899384   PMID:14563446   PMID:14567680   PMID:14605999  
PMID:14650352   PMID:14666368   PMID:14686962   PMID:15135251   PMID:15135268   PMID:15159243   PMID:15177133   PMID:15489334   PMID:15527447   PMID:15547295   PMID:15572430   PMID:15598690  
PMID:15764642   PMID:15776585   PMID:15869758   PMID:16002819   PMID:16276364   PMID:16679929   PMID:16718625   PMID:16718632   PMID:16733910   PMID:16809903   PMID:16908951   PMID:16945373  
PMID:17143557   PMID:17207965   PMID:17209184   PMID:17212611   PMID:17292994   PMID:17310796   PMID:17343826   PMID:17383953   PMID:17428383   PMID:17447159   PMID:17512303   PMID:17594477  
PMID:17605029   PMID:17633563   PMID:17684408   PMID:17907115   PMID:17914506   PMID:17921407   PMID:17960769   PMID:17975119   PMID:17992640   PMID:18065580   PMID:18201778   PMID:18280114  
PMID:18282109   PMID:18422024   PMID:18440731   PMID:18506375   PMID:18634911   PMID:18660489   PMID:18701184   PMID:18824579   PMID:19023099   PMID:19056482   PMID:19156719   PMID:19282863  
PMID:19288030   PMID:19324445   PMID:19367093   PMID:19384318   PMID:19439328   PMID:19475463   PMID:19491387   PMID:19499240   PMID:19578796   PMID:19689066   PMID:19689828   PMID:19878569  
PMID:19913121   PMID:19948975   PMID:19961041   PMID:20047744   PMID:20080390   PMID:20202768   PMID:20308031   PMID:20329566   PMID:20332099   PMID:20384434   PMID:20413122   PMID:20416077  
PMID:20452482   PMID:20484485   PMID:20534879   PMID:20565774   PMID:20578207   PMID:20621703   PMID:20628086   PMID:20673868   PMID:20723947   PMID:21044950   PMID:21079390   PMID:21288588  
PMID:21355293   PMID:21767383   PMID:21840466   PMID:21861348   PMID:21873635   PMID:21988832   PMID:22396741   PMID:22817827   PMID:22838187   PMID:23072901   PMID:23303383   PMID:23362142  
PMID:23468166   PMID:23817228   PMID:23826253   PMID:23911300   PMID:24100750   PMID:24340071   PMID:24640155   PMID:24690233   PMID:24956227   PMID:25262933   PMID:25324448   PMID:25357227  
PMID:25388378   PMID:25416956   PMID:25594612   PMID:25730055   PMID:25793701   PMID:25807642   PMID:25847235   PMID:25910212   PMID:26019038   PMID:26114190   PMID:26238699   PMID:26316042  
PMID:26703680   PMID:26798632   PMID:27110575   PMID:27765895   PMID:27778448   PMID:28110600   PMID:28164671   PMID:28232029   PMID:28738793   PMID:28760427   PMID:28819290   PMID:28984785  
PMID:29338565   PMID:29404926   PMID:29744713   PMID:29771764   PMID:29785495   PMID:30100046   PMID:30927395   PMID:31301805   PMID:32456678   PMID:32619856   PMID:32696562   PMID:32922199  
PMID:32970496   PMID:33857216   PMID:34206471   PMID:34264553   PMID:34942410   PMID:35156780   PMID:35536089   PMID:35614607   PMID:35647197   PMID:36260646   PMID:36286801   PMID:36335131  
PMID:36382874   PMID:36609803   PMID:36701395   PMID:36758511   PMID:36768285   PMID:37076872   PMID:38159016   PMID:39242607   PMID:39277188  


Genomics

Comparative Map Data
FABP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384119,317,250 - 119,322,138 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4119,317,250 - 119,322,138 (-)EnsemblGRCh38hg38GRCh38
GRCh374120,238,405 - 120,243,293 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364120,457,853 - 120,462,766 (-)NCBINCBI36Build 36hg18NCBI36
Build 344120,596,008 - 120,600,921NCBI
Celera4117,600,001 - 117,604,911 (-)NCBICelera
Cytogenetic Map4q26NCBI
HuRef4115,960,235 - 115,965,143 (-)NCBIHuRef
CHM1_14120,214,972 - 120,219,883 (-)NCBICHM1_1
T2T-CHM13v2.04122,622,352 - 122,627,246 (-)NCBIT2T-CHM13v2.0
Fabp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393122,688,721 - 122,693,155 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3122,688,721 - 122,693,155 (+)EnsemblGRCm39 Ensembl
GRCm383122,895,072 - 122,899,506 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3122,895,072 - 122,899,506 (+)EnsemblGRCm38mm10GRCm38
MGSCv373122,598,310 - 122,602,424 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363122,887,414 - 122,891,528 (+)NCBIMGSCv36mm8
Celera3129,305,754 - 129,309,868 (+)NCBICelera
Cytogenetic Map3G1NCBI
cM Map353.74NCBI
Fabp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82213,724,629 - 213,728,686 (+)NCBIGRCr8
mRatBN7.22211,040,032 - 211,044,089 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2211,040,032 - 211,044,089 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2218,717,756 - 218,721,725 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02216,625,543 - 216,629,512 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02211,471,755 - 211,475,828 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02227,080,912 - 227,083,654 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2227,080,924 - 227,083,501 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02246,442,292 - 246,445,034 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42219,591,502 - 219,605,097 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12219,554,563 - 219,568,159 (+)NCBI
Celera2203,465,826 - 203,473,400 (+)NCBICelera
RH 3.4 Map21537.1RGD
Cytogenetic Map2q42NCBI
Fabp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542820,930,479 - 20,933,950 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542820,930,512 - 20,933,950 (+)NCBIChiLan1.0ChiLan1.0
FABP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23117,095,776 - 117,098,841 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14117,388,095 - 117,395,765 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04111,505,269 - 111,510,197 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14122,055,544 - 122,060,461 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4122,055,544 - 122,060,461 (-)Ensemblpanpan1.1panPan2
FABP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13238,244,065 - 38,248,093 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.03238,465,352 - 38,497,153 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3238,465,346 - 38,492,684 (-)EnsemblROS_Cfam_1.0 Ensembl
Fabp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530167,281,463 - 67,284,661 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936869146,844 - 149,902 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936869146,567 - 149,929 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FABP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8104,464,342 - 104,470,480 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18104,464,342 - 104,468,059 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28112,120,922 - 112,124,639 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FABP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1766,797,832 - 66,803,459 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl766,798,990 - 66,802,738 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603745,658,385 - 45,663,315 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in FABP2
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000134.4(FABP2):c.163A>G (p.Thr55Ala) single nucleotide variant FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF [RCV000017958]|not provided [RCV001650835] Chr4:119320747 [GRCh38]
Chr4:120241902 [GRCh37]
Chr4:4q26
benign
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
NM_000134.3(FABP2):c.380G>A (p.Arg127Lys) single nucleotide variant Malignant melanoma [RCV000074317] Chr4:119319060 [GRCh38]
Chr4:120240215 [GRCh37]
Chr4:120459663 [NCBI36]
Chr4:4q26
not provided
GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1 copy number loss See cases [RCV000138837] Chr4:118360303..120924156 [GRCh38]
Chr4:119281458..121845311 [GRCh37]
Chr4:119500906..122064761 [NCBI36]
Chr4:4q26-27
pathogenic
GRCh38/hg38 4q26(chr4:116090996-119545165)x1 copy number loss See cases [RCV000138236] Chr4:116090996..119545165 [GRCh38]
Chr4:117012152..120466320 [GRCh37]
Chr4:117231601..120685768 [NCBI36]
Chr4:4q26
likely pathogenic
GRCh38/hg38 4q26(chr4:118858868-119856165)x3 copy number gain See cases [RCV000139232] Chr4:118858868..119856165 [GRCh38]
Chr4:119780023..120777320 [GRCh37]
Chr4:119999471..120996768 [NCBI36]
Chr4:4q26
likely benign
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 copy number loss See cases [RCV000143207] Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 copy number loss not provided [RCV000682448] Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2
pathogenic
GRCh37/hg19 4q26(chr4:117108352-120317108)x1 copy number loss not provided [RCV000682449] Chr4:117108352..120317108 [GRCh37]
Chr4:4q26
uncertain significance
GRCh37/hg19 4q26(chr4:120003576-120689244)x3 copy number gain not provided [RCV000682453] Chr4:120003576..120689244 [GRCh37]
Chr4:4q26
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NC_000004.12:g.119322182del deletion not provided [RCV001609713] Chr4:119322182 [GRCh38]
Chr4:120243337 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.241-136A>G single nucleotide variant not provided [RCV001708996] Chr4:119319779 [GRCh38]
Chr4:120240934 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.68-148G>A single nucleotide variant not provided [RCV001645264] Chr4:119320990 [GRCh38]
Chr4:120242145 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.68-167T>G single nucleotide variant not provided [RCV001645279] Chr4:119321009 [GRCh38]
Chr4:120242164 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.241-34TAT[13] microsatellite not provided [RCV001668074] Chr4:119319647..119319648 [GRCh38]
Chr4:120240802..120240803 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.241-34TAT[14] microsatellite not provided [RCV000946810] Chr4:119319647..119319648 [GRCh38]
Chr4:120240802..120240803 [GRCh37]
Chr4:4q26
benign
Single allele deletion Neurodevelopmental disorder [RCV000787448] Chr4:116624547..126168646 [GRCh37]
Chr4:4q26-28.1
likely pathogenic
NM_000134.4(FABP2):c.240+179T>C single nucleotide variant not provided [RCV001609266] Chr4:119320491 [GRCh38]
Chr4:120241646 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.240+151G>A single nucleotide variant not provided [RCV001714747] Chr4:119320519 [GRCh38]
Chr4:120241674 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.*15G>A single nucleotide variant not provided [RCV001615744] Chr4:119319026 [GRCh38]
Chr4:120240181 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.240+166A>G single nucleotide variant not provided [RCV001681118] Chr4:119320504 [GRCh38]
Chr4:120241659 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.67+156C>T single nucleotide variant not provided [RCV001657514] Chr4:119321880 [GRCh38]
Chr4:120243035 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.216T>C (p.Asn72=) single nucleotide variant not provided [RCV001621265] Chr4:119320694 [GRCh38]
Chr4:120241849 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.241-34TAT[11] microsatellite not provided [RCV001654605] Chr4:119319647..119319648 [GRCh38]
Chr4:120240802..120240803 [GRCh37]
Chr4:4q26
benign
NC_000004.12:g.119322237_119322238insCTCTA insertion not provided [RCV001674050] Chr4:119322234..119322235 [GRCh38]
Chr4:120243389..120243390 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.240+100G>T single nucleotide variant not provided [RCV001674761] Chr4:119320570 [GRCh38]
Chr4:120241725 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.*65A>G single nucleotide variant not provided [RCV001638490] Chr4:119318976 [GRCh38]
Chr4:120240131 [GRCh37]
Chr4:4q26
benign
GRCh37/hg19 4q26(chr4:120191740-120248879)x1 copy number loss not provided [RCV001005594] Chr4:120191740..120248879 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.357A>G (p.Val119=) single nucleotide variant not provided [RCV001666870] Chr4:119319083 [GRCh38]
Chr4:120240238 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.67+262C>A single nucleotide variant not provided [RCV001707300] Chr4:119321774 [GRCh38]
Chr4:120242929 [GRCh37]
Chr4:4q26
benign
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) copy number loss Atypical behavior [RCV001352657] Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2
pathogenic
NC_000004.12:g.119322356T>C single nucleotide variant not provided [RCV001679790] Chr4:119322356 [GRCh38]
Chr4:120243511 [GRCh37]
Chr4:4q26
benign
NC_000004.12:g.119322197C>T single nucleotide variant not provided [RCV001654268] Chr4:119322197 [GRCh38]
Chr4:120243352 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.*252G>A single nucleotide variant not provided [RCV001615870] Chr4:119318789 [GRCh38]
Chr4:120239944 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.68-315G>A single nucleotide variant not provided [RCV001670434] Chr4:119321157 [GRCh38]
Chr4:120242312 [GRCh37]
Chr4:4q26
benign
NM_000134.4(FABP2):c.241-34TAT[9] microsatellite not provided [RCV001652803] Chr4:119319648..119319650 [GRCh38]
Chr4:120240803..120240805 [GRCh37]
Chr4:4q26
benign
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 copy number loss not provided [RCV001795851] Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3
pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21
pathogenic
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) copy number loss not specified [RCV002053451] Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2
pathogenic
GRCh37/hg19 4q26-27(chr4:119902254-121463237) copy number gain not specified [RCV002053452] Chr4:119902254..121463237 [GRCh37]
Chr4:4q26-27
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_000134.4(FABP2):c.304G>A (p.Glu102Lys) single nucleotide variant not specified [RCV004202202] Chr4:119319580 [GRCh38]
Chr4:120240735 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.317T>C (p.Val106Ala) single nucleotide variant not specified [RCV004146331] Chr4:119319567 [GRCh38]
Chr4:120240722 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.76A>G (p.Ile26Val) single nucleotide variant not specified [RCV004146332] Chr4:119320834 [GRCh38]
Chr4:120241989 [GRCh37]
Chr4:4q26
likely benign
NM_000134.4(FABP2):c.68G>A (p.Gly23Asp) single nucleotide variant not specified [RCV004217058] Chr4:119320842 [GRCh38]
Chr4:120241997 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.286C>T (p.Arg96Trp) single nucleotide variant not specified [RCV004249127] Chr4:119319598 [GRCh38]
Chr4:120240753 [GRCh37]
Chr4:4q26
uncertain significance
GRCh37/hg19 4q26(chr4:120191741-120245035)x1 copy number loss not provided [RCV003485435] Chr4:120191741..120245035 [GRCh37]
Chr4:4q26
uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3
pathogenic
NM_000134.4(FABP2):c.147A>C (p.Thr49=) single nucleotide variant not provided [RCV003435141] Chr4:119320763 [GRCh38]
Chr4:120241918 [GRCh37]
Chr4:4q26
likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_000134.4(FABP2):c.134G>A (p.Gly45Glu) single nucleotide variant not specified [RCV004378402] Chr4:119320776 [GRCh38]
Chr4:120241931 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.245C>T (p.Thr82Ile) single nucleotide variant not specified [RCV004378403] Chr4:119319639 [GRCh38]
Chr4:120240794 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.214A>T (p.Asn72Tyr) single nucleotide variant not specified [RCV004623157] Chr4:119320696 [GRCh38]
Chr4:120241851 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.127C>G (p.Gln43Glu) single nucleotide variant not specified [RCV004623159] Chr4:119320783 [GRCh38]
Chr4:120241938 [GRCh37]
Chr4:4q26
uncertain significance
NM_000134.4(FABP2):c.272T>G (p.Ile91Ser) single nucleotide variant not specified [RCV004623160] Chr4:119319612 [GRCh38]
Chr4:120240767 [GRCh37]
Chr4:4q26
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:752
Count of miRNA genes:448
Interacting mature miRNAs:478
Transcripts:ENST00000274024
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643256BW127_HBody Weight QTL 127 (human)1.310.007Body weightbody mass index4106319694132319694Human
407079015GWAS727991_Hpulmonary embolism QTL GWAS727991 (human)8e-17pulmonary embolism4119320747119320748Human
407196112GWAS845088_Handrosterone sulfate measurement QTL GWAS845088 (human)0.000004androsterone sulfate measurement4119318723119318724Human
407196751GWAS845727_HcGMP-specific 3',5'-cyclic phosphodiesterase measurement QTL GWAS845727 (human)4e-12cGMP-specific 3',5'-cyclic phosphodiesterase measurement4119320694119320695Human

Markers in Region
SHGC4-110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374120,240,211 - 120,240,619UniSTSGRCh37
Build 364120,459,659 - 120,460,067RGDNCBI36
Celera4117,601,807 - 117,602,215RGD
Cytogenetic Map4q28-q31UniSTS
HuRef4115,962,041 - 115,962,449UniSTS
TNG Radiation Hybrid Map473768.0UniSTS
GDB:178665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374120,240,775 - 120,240,878UniSTSGRCh37
Build 364120,460,223 - 120,460,326RGDNCBI36
Celera4117,602,371 - 117,602,477RGD
Cytogenetic Map4q28-q31UniSTS
HuRef4115,962,605 - 115,962,717UniSTS
SHGC-145405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374120,242,866 - 120,243,175UniSTSGRCh37
Build 364120,462,314 - 120,462,623RGDNCBI36
Celera4117,604,461 - 117,604,770RGD
Cytogenetic Map4q28-q31UniSTS
HuRef4115,964,693 - 115,965,002UniSTS
TNG Radiation Hybrid Map1042794.0UniSTS
PMC31346P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374120,241,733 - 120,242,108UniSTSGRCh37
Build 364120,461,181 - 120,461,556RGDNCBI36
Celera4117,603,328 - 117,603,703RGD
Cytogenetic Map4q28-q31UniSTS
HuRef4115,963,560 - 115,963,935UniSTS
FABP2_200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374120,238,315 - 120,239,210UniSTSGRCh37
Build 364120,457,763 - 120,458,658RGDNCBI36
Celera4117,599,911 - 117,600,806RGD
HuRef4115,960,145 - 115,961,040UniSTS
SHGC-59292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374120,240,031 - 120,240,183UniSTSGRCh37
Build 364120,459,479 - 120,459,631RGDNCBI36
Celera4117,601,627 - 117,601,779RGD
Cytogenetic Map4q28-q31UniSTS
HuRef4115,961,861 - 115,962,013UniSTS
GeneMap99-GB4 RH Map4546.46UniSTS
Whitehead-RH Map4597.7UniSTS
NCBI RH Map41251.6UniSTS
SHGC4-8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374120,240,730 - 120,240,934UniSTSGRCh37
Build 364120,460,178 - 120,460,382RGDNCBI36
Celera4117,602,326 - 117,602,533RGD
Cytogenetic Map4q28-q31UniSTS
HuRef4115,962,560 - 115,962,773UniSTS
Stanford-G3 RH Map46747.0UniSTS
NCBI RH Map41228.1UniSTS
GeneMap99-G3 RH Map46693.0UniSTS
SHGC-59542  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q28-q31UniSTS
HuRef4115,962,852 - 115,963,027UniSTS
GeneMap99-GB4 RH Map4556.1UniSTS


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
615 1577 1536 1403 1880 1004 1094 1 310 827 219 723 4303 3317 4 1607 382 1047 744 93

Sequence


Ensembl Acc Id: ENST00000274024   ⟹   ENSP00000274024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4119,317,250 - 119,322,138 (-)Ensembl
RefSeq Acc Id: NM_000134   ⟹   NP_000125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384119,317,250 - 119,322,138 (-)NCBI
GRCh374120,238,405 - 120,243,316 (-)ENTREZGENE
Build 364120,457,853 - 120,462,766 (-)NCBI Archive
HuRef4115,960,235 - 115,965,143 (-)ENTREZGENE
CHM1_14120,214,972 - 120,219,883 (-)NCBI
T2T-CHM13v2.04122,622,352 - 122,627,246 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000125   ⟸   NM_000134
- UniProtKB: Q2NKJ1 (UniProtKB/Swiss-Prot),   P12104 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000274024   ⟸   ENST00000274024

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12104-F1-model_v2 AlphaFold P12104 1-132 view protein structure

Promoters
RGD ID:6868366
Promoter ID:EPDNEW_H7348
Type:multiple initiation site
Name:FABP2_1
Description:fatty acid binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7349  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384119,322,138 - 119,322,198EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3556 AgrOrtholog
COSMIC FABP2 COSMIC
Ensembl Genes ENSG00000145384 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274024 ENTREZGENE
  ENST00000274024.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot
GTEx ENSG00000145384 GTEx
HGNC ID HGNC:3556 ENTREZGENE
Human Proteome Map FABP2 Human Proteome Map
InterPro Calycin UniProtKB/Swiss-Prot
  FABP2 UniProtKB/Swiss-Prot
  Fatty_acid-bd UniProtKB/Swiss-Prot
  ILBP UniProtKB/Swiss-Prot
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot
KEGG Report hsa:2169 UniProtKB/Swiss-Prot
NCBI Gene 2169 ENTREZGENE
OMIM 134640 OMIM
PANTHER PTHR11955 UniProtKB/Swiss-Prot
  PTHR11955:SF89 UniProtKB/Swiss-Prot
Pfam Lipocalin UniProtKB/Swiss-Prot
PharmGKB PA27957 PharmGKB
PRINTS FATTYACIDBP UniProtKB/Swiss-Prot
PROSITE FABP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot
UniProt FABPI_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2NKJ1 ENTREZGENE
UniProt Secondary Q2NKJ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 FABP2  fatty acid binding protein 2  FABP2  fatty acid binding protein 2, intestinal  Symbol and/or name change 5135510 APPROVED