GFPT2 (glutamine-fructose-6-phosphate transaminase 2) - Rat Genome Database

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Gene: GFPT2 (glutamine-fructose-6-phosphate transaminase 2) Homo sapiens
Analyze
Symbol: GFPT2
Name: glutamine-fructose-6-phosphate transaminase 2
RGD ID: 1351553
HGNC Page HGNC:4242
Description: Enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Involved in UDP-N-acetylglucosamine biosynthetic process and fructose 6-phosphate metabolic process. Predicted to be located in cytosol. Implicated in type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: D-fructose-6-phosphate amidotransferase 2; FLJ10380; GFAT; GFAT 2; GFAT2; glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2; glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2; glutamine: fructose-6-phosphate aminotransferase 2; glutamine:fructose 6 phosphate amidotransferase 2; glutamine:fructose-6-phosphate amidotransferase 2; hexosephosphate aminotransferase 2
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh385180,300,698 - 180,353,336 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5180,300,698 - 180,353,336 (-)EnsemblGRCh38hg38GRCh38
GRCh375179,727,698 - 179,780,336 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365179,660,306 - 179,712,921 (-)NCBINCBI36Build 36hg18NCBI36
Build 345179,660,305 - 179,712,921NCBI
Celera5175,353,585 - 175,406,149 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5174,452,687 - 174,505,224 (-)NCBIHuRef
CHM1_15179,160,010 - 179,212,604 (-)NCBICHM1_1
T2T-CHM13v2.05180,856,156 - 180,908,788 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ampicillin  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
DDE  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
ketamine  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
methylparaben  (EXP)
metronidazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
neomycin  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
ozone  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Common variants in glutamine:fructose-6-phosphate amidotransferase 2 (GFPT2) gene are associated with type 2 diabetes, diabetic nephropathy, and increased GFPT2 mRNA levels. Zhang H, etal., J Clin Endocrinol Metab. 2004 Feb;89(2):748-55.
Additional References at PubMed
PMID:10198162   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17081983   PMID:17542649   PMID:17574229   PMID:20353610   PMID:20881960   PMID:21044950   PMID:21145461   PMID:21873635  
PMID:21897333   PMID:23284306   PMID:23314748   PMID:24378760   PMID:24778252   PMID:25720964   PMID:26186194   PMID:26344197   PMID:26514267   PMID:26871637   PMID:26887390   PMID:28514442  
PMID:29760045   PMID:29943541   PMID:30849544   PMID:30885209   PMID:31091453   PMID:31182584   PMID:31685298   PMID:32235678   PMID:33303629   PMID:33742100   PMID:33846782   PMID:33961781  
PMID:34244565   PMID:34349018   PMID:34735873   PMID:34857952   PMID:34923141   PMID:35122331   PMID:35140242   PMID:35229715   PMID:35256949   PMID:35337019   PMID:35509820   PMID:35545034  
PMID:35914814   PMID:36195245   PMID:36215168   PMID:36543142   PMID:36574265   PMID:37249651   PMID:39317702  


Genomics

Comparative Map Data
GFPT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385180,300,698 - 180,353,336 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5180,300,698 - 180,353,336 (-)EnsemblGRCh38hg38GRCh38
GRCh375179,727,698 - 179,780,336 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365179,660,306 - 179,712,921 (-)NCBINCBI36Build 36hg18NCBI36
Build 345179,660,305 - 179,712,921NCBI
Celera5175,353,585 - 175,406,149 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5174,452,687 - 174,505,224 (-)NCBIHuRef
CHM1_15179,160,010 - 179,212,604 (-)NCBICHM1_1
T2T-CHM13v2.05180,856,156 - 180,908,788 (-)NCBIT2T-CHM13v2.0
Gfpt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391149,684,981 - 49,729,448 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1149,685,005 - 49,729,440 (+)EnsemblGRCm39 Ensembl
GRCm381149,794,155 - 49,838,620 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1149,794,178 - 49,838,613 (+)EnsemblGRCm38mm10GRCm38
MGSCv371149,607,657 - 49,652,122 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361149,637,612 - 49,682,036 (+)NCBIMGSCv36mm8
Celera1154,356,266 - 54,400,730 (+)NCBICelera
Cytogenetic Map11B1.2NCBI
cM Map1129.9NCBI
Gfpt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81034,616,146 - 34,662,420 (+)NCBIGRCr8
mRatBN7.21034,115,005 - 34,161,329 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1034,115,052 - 34,161,329 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1038,790,597 - 38,836,668 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0107,329,012 - 7,375,083 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01033,784,262 - 33,830,334 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01035,279,237 - 35,325,506 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1035,279,236 - 35,325,508 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01035,051,132 - 35,097,280 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41035,290,139 - 35,336,286 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11035,291,187 - 35,337,335 (+)NCBI
Celera1033,471,073 - 33,517,016 (+)NCBICelera
Cytogenetic Map10q21NCBI
Gfpt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955408330,112 - 372,413 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955408330,112 - 372,413 (+)NCBIChiLan1.0ChiLan1.0
GFPT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24175,323,496 - 175,378,253 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15173,487,562 - 173,542,333 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05175,504,272 - 175,558,610 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15182,815,725 - 182,869,823 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5182,815,719 - 182,869,823 (-)Ensemblpanpan1.1panPan2
GFPT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1111,378,275 - 1,419,643 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl111,378,336 - 1,419,653 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha111,440,563 - 1,481,926 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0111,349,822 - 1,391,200 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl111,349,855 - 1,391,191 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1111,302,674 - 1,344,040 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0111,400,733 - 1,442,090 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0111,640,780 - 1,682,142 (+)NCBIUU_Cfam_GSD_1.0
Gfpt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213119,283,259 - 119,333,923 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936739493,060 - 543,702 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936739493,082 - 543,700 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GFPT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl278,285,203 - 78,328,285 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1278,285,208 - 78,328,288 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2279,770,248 - 79,813,317 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GFPT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12382,035,258 - 82,086,201 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2382,034,854 - 82,071,828 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607513,422,000 - 13,475,977 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gfpt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473343,058,156 - 43,089,508 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473343,057,319 - 43,103,568 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GFPT2
55 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3 copy number gain See cases [RCV000051205] Chr5:178529878..181269805 [GRCh38]
Chr5:177956879..180696806 [GRCh37]
Chr5:177889485..180629412 [NCBI36]
Chr5:5q35.3		 uncertain significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
NM_005110.2(GFPT2):c.1744G>A (p.Ala582Thr) single nucleotide variant Malignant melanoma [RCV000061226] Chr5:180304870 [GRCh38]
Chr5:179731870 [GRCh37]
Chr5:179664476 [NCBI36]
Chr5:5q35.3		 not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1 copy number loss See cases [RCV000135285] Chr5:179669736..180897169 [GRCh38]
Chr5:179096737..180324169 [GRCh37]
Chr5:179029343..180256775 [NCBI36]
Chr5:5q35.3		 likely pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3 copy number gain See cases [RCV000142298] Chr5:178235909..181292788 [GRCh38]
Chr5:177662910..180719789 [GRCh37]
Chr5:177595516..180652395 [NCBI36]
Chr5:5q35.3		 likely pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:177776148-180687012) copy number loss not provided [RCV000767663] Chr5:177776148..180687012 [GRCh37]
Chr5:5q35.3		 likely pathogenic
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:179240402-179751111)x3 copy number gain See cases [RCV000446333] Chr5:179240402..179751111 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179309535-180719789)x3 copy number gain See cases [RCV000447009] Chr5:179309535..180719789 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:178228725-180678091)x3 copy number gain See cases [RCV000448488] Chr5:178228725..180678091 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:178849756-180719789)x3 copy number gain See cases [RCV000448073] Chr5:178849756..180719789 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179663119-179857751)x3 copy number gain See cases [RCV000447828] Chr5:179663119..179857751 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_005110.4(GFPT2):c.86G>A (p.Arg29Gln) single nucleotide variant not specified [RCV004294191] Chr5:180338522 [GRCh38]
Chr5:179765522 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3 copy number gain See cases [RCV000512203] Chr5:177535168..180719789 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179240909-180035580)x3 copy number gain not provided [RCV000682625] Chr5:179240909..180035580 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179694142-179799330)x1 copy number loss not provided [RCV000682626] Chr5:179694142..179799330 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1 copy number loss not provided [RCV000682620] Chr5:177114088..180719789 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_005110.4(GFPT2):c.897C>T (p.Ala299=) single nucleotide variant not provided [RCV000964997] Chr5:180318854 [GRCh38]
Chr5:179745854 [GRCh37]
Chr5:5q35.3		 benign
NM_005110.4(GFPT2):c.1872C>T (p.Asp624=) single nucleotide variant not provided [RCV000916297] Chr5:180302555 [GRCh38]
Chr5:179729555 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4 copy number gain not provided [RCV001005750] Chr5:178487249..180622216 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179606925-179807137)x1 copy number loss Intellectual disability [RCV001250265] Chr5:179606925..179807137 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.704G>C (p.Cys235Ser) single nucleotide variant not specified [RCV004305524] Chr5:180324278 [GRCh38]
Chr5:179751278 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1609A>C (p.Thr537Pro) single nucleotide variant not specified [RCV004303446] Chr5:180307241 [GRCh38]
Chr5:179734241 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3 copy number gain not provided [RCV001005751] Chr5:179479838..180695063 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179528704-179860433)x1 copy number loss not provided [RCV001258716] Chr5:179528704..179860433 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179522222-179952028)x3 copy number gain not provided [RCV001258719] Chr5:179522222..179952028 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1420G>A (p.Ala474Thr) single nucleotide variant not specified [RCV004292802] Chr5:180313818 [GRCh38]
Chr5:179740818 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:177954576-180198875) copy number gain not specified [RCV002053539] Chr5:177954576..180198875 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_005110.4(GFPT2):c.1369C>T (p.Arg457Cys) single nucleotide variant not specified [RCV004212976] Chr5:180313869 [GRCh38]
Chr5:179740869 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3 copy number gain not provided [RCV002475701] Chr5:177746012..179975280 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.638A>G (p.Lys213Arg) single nucleotide variant not specified [RCV004079344] Chr5:180324854 [GRCh38]
Chr5:179751854 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1951G>A (p.Val651Met) single nucleotide variant not specified [RCV004093920] Chr5:180302476 [GRCh38]
Chr5:179729476 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1735G>A (p.Gly579Arg) single nucleotide variant not specified [RCV004077490] Chr5:180304879 [GRCh38]
Chr5:179731879 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1358G>A (p.Ser453Asn) single nucleotide variant not specified [RCV004176410] Chr5:180313880 [GRCh38]
Chr5:179740880 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1289C>T (p.Thr430Ile) single nucleotide variant not specified [RCV004110052] Chr5:180313949 [GRCh38]
Chr5:179740949 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.595C>T (p.Arg199Trp) single nucleotide variant not specified [RCV004108070] Chr5:180328278 [GRCh38]
Chr5:179755278 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1525C>T (p.Arg509Cys) single nucleotide variant not specified [RCV004205903] Chr5:180312451 [GRCh38]
Chr5:179739451 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1106G>A (p.Arg369Gln) single nucleotide variant not specified [RCV004218549] Chr5:180316810 [GRCh38]
Chr5:179743810 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.766G>A (p.Val256Met) single nucleotide variant not specified [RCV004242878] Chr5:180324216 [GRCh38]
Chr5:179751216 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1231C>T (p.Pro411Ser) single nucleotide variant not specified [RCV004106978] Chr5:180316383 [GRCh38]
Chr5:179743383 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.61G>A (p.Glu21Lys) single nucleotide variant not specified [RCV004206098] Chr5:180338547 [GRCh38]
Chr5:179765547 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.460A>C (p.Lys154Gln) single nucleotide variant not specified [RCV004147122] Chr5:180330774 [GRCh38]
Chr5:179757774 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1713C>G (p.Ile571Met) single nucleotide variant not specified [RCV004199411] Chr5:180304901 [GRCh38]
Chr5:179731901 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1339G>A (p.Val447Ile) single nucleotide variant not specified [RCV004206175] Chr5:180313899 [GRCh38]
Chr5:179740899 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1987G>C (p.Val663Leu) single nucleotide variant not specified [RCV004211406] Chr5:180302440 [GRCh38]
Chr5:179729440 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.410G>C (p.Gly137Ala) single nucleotide variant not specified [RCV004266240] Chr5:180330824 [GRCh38]
Chr5:179757824 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.292G>T (p.Val98Phe) single nucleotide variant not specified [RCV004282929] Chr5:180335876 [GRCh38]
Chr5:179762876 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.709A>G (p.Thr237Ala) single nucleotide variant not specified [RCV004307081] Chr5:180324273 [GRCh38]
Chr5:179751273 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.133A>C (p.Asn45His) single nucleotide variant not specified [RCV004251519] Chr5:180336560 [GRCh38]
Chr5:179763560 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1686G>C (p.Glu562Asp) single nucleotide variant not specified [RCV004349663] Chr5:180304928 [GRCh38]
Chr5:179731928 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1157G>A (p.Arg386Gln) single nucleotide variant not specified [RCV004337832] Chr5:180316457 [GRCh38]
Chr5:179743457 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1152+1G>A single nucleotide variant not provided [RCV003331516] Chr5:180316763 [GRCh38]
Chr5:179743763 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.227T>C (p.Met76Thr) single nucleotide variant not specified [RCV004338321] Chr5:180335941 [GRCh38]
Chr5:179762941 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3 copy number gain not provided [RCV003484632] Chr5:178581633..180719789 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:179565253-180051586)x3 copy number gain not provided [RCV003484634] Chr5:179565253..180051586 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.765C>T (p.Ala255=) single nucleotide variant not provided [RCV003430047] Chr5:180324217 [GRCh38]
Chr5:179751217 [GRCh37]
Chr5:5q35.3		 likely benign
NM_005110.4(GFPT2):c.736G>A (p.Ala246Thr) single nucleotide variant not provided [RCV003430048] Chr5:180324246 [GRCh38]
Chr5:179751246 [GRCh37]
Chr5:5q35.3		 likely benign
NM_005110.4(GFPT2):c.102C>T (p.Gly34=) single nucleotide variant not provided [RCV003430049] Chr5:180338506 [GRCh38]
Chr5:179765506 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3 copy number gain not specified [RCV003986579] Chr5:177944162..180183615 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3 copy number gain not specified [RCV003986542] Chr5:177944162..180198875 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_005110.4(GFPT2):c.*18G>A single nucleotide variant GFPT2-related disorder [RCV003934373] Chr5:180301546 [GRCh38]
Chr5:179728546 [GRCh37]
Chr5:5q35.3		 likely benign
NM_005110.4(GFPT2):c.1249G>A (p.Val417Ile) single nucleotide variant not specified [RCV004387823] Chr5:180316365 [GRCh38]
Chr5:179743365 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.322C>T (p.Arg108Cys) single nucleotide variant not specified [RCV004387828] Chr5:180335846 [GRCh38]
Chr5:179762846 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.802A>G (p.Ile268Val) single nucleotide variant not specified [RCV004387831] Chr5:180318949 [GRCh38]
Chr5:179745949 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.763G>T (p.Ala255Ser) single nucleotide variant not specified [RCV004387830] Chr5:180324219 [GRCh38]
Chr5:179751219 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1837C>T (p.Arg613Cys) single nucleotide variant not specified [RCV004387827] Chr5:180304777 [GRCh38]
Chr5:179731777 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.141C>T (p.His47=) single nucleotide variant not specified [RCV004387825] Chr5:180336552 [GRCh38]
Chr5:179763552 [GRCh37]
Chr5:5q35.3		 likely benign
NM_005110.4(GFPT2):c.475A>C (p.Asn159His) single nucleotide variant not specified [RCV004387829] Chr5:180330759 [GRCh38]
Chr5:179757759 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1738C>A (p.Pro580Thr) single nucleotide variant not specified [RCV004387826] Chr5:180304876 [GRCh38]
Chr5:179731876 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1260C>G (p.Phe420Leu) single nucleotide variant not specified [RCV004387824] Chr5:180316354 [GRCh38]
Chr5:179743354 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1298C>T (p.Ala433Val) single nucleotide variant not specified [RCV004626948] Chr5:180313940 [GRCh38]
Chr5:179740940 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.410G>A (p.Gly137Asp) single nucleotide variant not specified [RCV004626946] Chr5:180330824 [GRCh38]
Chr5:179757824 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.667T>C (p.Tyr223His) single nucleotide variant not specified [RCV004626947] Chr5:180324825 [GRCh38]
Chr5:179751825 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_005110.4(GFPT2):c.1688T>G (p.Ile563Arg) single nucleotide variant not specified [RCV004626949] Chr5:180304926 [GRCh38]
Chr5:179731926 [GRCh37]
Chr5:5q35.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2444
Count of miRNA genes:992
Interacting mature miRNAs:1195
Transcripts:ENST00000253778, ENST00000503228, ENST00000503546, ENST00000510122, ENST00000518158, ENST00000518185, ENST00000518906, ENST00000520165
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
597175992GWAS1272066_Hmitogen-activated protein kinase 9 measurement QTL GWAS1272066 (human)4e-71mitogen-activated protein kinase 9 measurement5180313366180313367Human
597129175GWAS1225249_Hbody height QTL GWAS1225249 (human)0.0000001body height (VT:0001253)body height (CMO:0000106)5180339927180339928Human
597200633GWAS1296707_Hbody height QTL GWAS1296707 (human)3e-36body height (VT:0001253)body height (CMO:0000106)5180302328180302329Human
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
597263231GWAS1359305_Hbody height QTL GWAS1359305 (human)1e-08body height (VT:0001253)body height (CMO:0000106)5180337698180337699Human
597579701GWAS1636561_Hbody height QTL GWAS1636561 (human)1e-22body height (VT:0001253)body height (CMO:0000106)5180306934180306935Human
597585393GWAS1642253_Hbody height QTL GWAS1642253 (human)5e-23body height (VT:0001253)body height (CMO:0000106)5180306407180306408Human
597021050GWAS1117124_Hairway imaging measurement QTL GWAS1117124 (human)5e-11airway imaging measurementrespiratory system measurement (CMO:0000094)5180315263180315264Human
597356586GWAS1452660_Hbody height QTL GWAS1452660 (human)7e-50body height (VT:0001253)body height (CMO:0000106)5180339927180339928Human
407059281GWAS708257_Hbody height QTL GWAS708257 (human)2e-09body height (VT:0001253)body height (CMO:0000106)5180304014180304015Human
597356584GWAS1452658_Hbody height QTL GWAS1452658 (human)6e-26body height (VT:0001253)body height (CMO:0000106)5180334163180334164Human
597356585GWAS1452659_Hbody height QTL GWAS1452659 (human)3e-53body height (VT:0001253)body height (CMO:0000106)5180336876180336877Human
597582665GWAS1639525_Hbody height QTL GWAS1639525 (human)2e-21body height (VT:0001253)body height (CMO:0000106)5180306407180306408Human
597253582GWAS1349656_Hurate measurement, bone density QTL GWAS1349656 (human)4e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)5180315208180315209Human
597077793GWAS1173867_Hblood protein measurement QTL GWAS1173867 (human)0.000001blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)5180318607180318608Human
406998266GWAS647242_HBMI-adjusted waist circumference QTL GWAS647242 (human)3e-09body size trait (VT:0100005)5180309613180309614Human
597299299GWAS1395373_Hbody height QTL GWAS1395373 (human)6e-34body height (VT:0001253)body height (CMO:0000106)5180302519180302520Human
597202466GWAS1298540_Hbone density QTL GWAS1298540 (human)2e-12bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)5180319036180319037Human
406998265GWAS647241_HBMI-adjusted waist circumference QTL GWAS647241 (human)6e-10body size trait (VT:0100005)5180321207180321208Human
597209316GWAS1305390_HFacial wrinkling QTL GWAS1305390 (human)0.000004Facial wrinkling5180302009180302010Human
597356583GWAS1452657_Hbody height QTL GWAS1452657 (human)1e-300body height (VT:0001253)body height (CMO:0000106)5180302328180302329Human
597269604GWAS1365678_HBMI-adjusted hip circumference QTL GWAS1365678 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)5180303004180303005Human
597582851GWAS1639711_Hbody height QTL GWAS1639711 (human)4e-18body height (VT:0001253)body height (CMO:0000106)5180320511180320512Human

Markers in Region
SHGC-148059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,731,902 - 179,732,249UniSTSGRCh37
Build 365179,664,508 - 179,664,855RGDNCBI36
Celera5175,357,787 - 175,358,134RGD
Cytogenetic Map5q34-q35UniSTS
HuRef5174,456,889 - 174,457,236UniSTS
TNG Radiation Hybrid Map584325.0UniSTS
SHGC-148282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,777,691 - 179,778,014UniSTSGRCh37
Build 365179,710,297 - 179,710,620RGDNCBI36
Celera5175,403,525 - 175,403,848RGD
Cytogenetic Map5q34-q35UniSTS
HuRef5174,502,600 - 174,502,923UniSTS
TNG Radiation Hybrid Map584402.0UniSTS
SHGC-146797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,732,239 - 179,732,561UniSTSGRCh37
Build 365179,664,845 - 179,665,167RGDNCBI36
Celera5175,358,124 - 175,358,446RGD
Cytogenetic Map5q34-q35UniSTS
HuRef5174,457,226 - 174,457,548UniSTS
TNG Radiation Hybrid Map584348.0UniSTS
RH78425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,727,831 - 179,728,011UniSTSGRCh37
Build 365179,660,437 - 179,660,617RGDNCBI36
Celera5175,353,716 - 175,353,896RGD
Cytogenetic Map5q34-q35UniSTS
HuRef5174,452,818 - 174,452,998UniSTS
GeneMap99-GB4 RH Map5650.3UniSTS
GEPT2_3752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,727,503 - 179,728,325UniSTSGRCh37
Build 365179,660,109 - 179,660,931RGDNCBI36
Celera5175,353,388 - 175,354,210RGD
HuRef5174,452,490 - 174,453,312UniSTS


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 2404 2788 2237 4949 1716 2325 5 616 1793 458 2268 7116 6319 48 3711 848 1728 1597 171

Sequence


Ensembl Acc Id: ENST00000253778   ⟹   ENSP00000253778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,300,698 - 180,353,336 (-)Ensembl
Ensembl Acc Id: ENST00000503228   ⟹   ENSP00000422771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,338,573 - 180,352,900 (-)Ensembl
Ensembl Acc Id: ENST00000503546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,335,869 - 180,353,336 (-)Ensembl
Ensembl Acc Id: ENST00000510122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,318,619 - 180,324,364 (-)Ensembl
Ensembl Acc Id: ENST00000518158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,331,412 - 180,353,336 (-)Ensembl
Ensembl Acc Id: ENST00000518185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,318,844 - 180,330,934 (-)Ensembl
Ensembl Acc Id: ENST00000518906   ⟹   ENSP00000431125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,318,809 - 180,331,648 (-)Ensembl
Ensembl Acc Id: ENST00000520165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5180,316,764 - 180,324,486 (-)Ensembl
RefSeq Acc Id: NM_005110   ⟹   NP_005101
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,300,698 - 180,353,336 (-)NCBI
GRCh375179,727,698 - 179,780,341 (-)NCBI
Build 365179,660,306 - 179,712,921 (-)NCBI Archive
Celera5175,353,585 - 175,406,149 (-)RGD
HuRef5174,452,687 - 174,505,224 (-)RGD
CHM1_15179,160,000 - 179,212,673 (-)NCBI
T2T-CHM13v2.05180,856,156 - 180,908,788 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005101   ⟸   NM_005110
- UniProtKB: O94808 (UniProtKB/Swiss-Prot),   Q53XM2 (UniProtKB/Swiss-Prot),   Q9BWS4 (UniProtKB/Swiss-Prot),   A0A0S2Z4X9 (UniProtKB/TrEMBL),   B3KMR8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000253778   ⟸   ENST00000253778
Ensembl Acc Id: ENSP00000422771   ⟸   ENST00000503228
Ensembl Acc Id: ENSP00000431125   ⟸   ENST00000518906
Protein Domains
Glutamine amidotransferase type-2   SIS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94808-F1-model_v2 AlphaFold O94808 1-682 view protein structure

Promoters
RGD ID:6812716
Promoter ID:HG_ACW:66884
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:GFPT2.EAPR07,   GFPT2.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365179,673,301 - 179,673,801 (-)MPROMDB
RGD ID:6803219
Promoter ID:HG_KWN:52018
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3
Transcripts:ENST00000253778
Position:
Human AssemblyChrPosition (strand)Source
Build 365179,712,796 - 179,713,297 (-)MPROMDB
RGD ID:6871808
Promoter ID:EPDNEW_H9069
Type:initiation region
Name:GFPT2_1
Description:glutamine-fructose-6-phosphate transaminase 2
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
GRCh385180,353,336 - 180,353,396EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4242 AgrOrtholog
COSMIC GFPT2 COSMIC
Ensembl Genes ENSG00000131459 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000253778 ENTREZGENE
  ENST00000253778.13 UniProtKB/Swiss-Prot
  ENST00000503228.1 UniProtKB/TrEMBL
  ENST00000518906.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glucose-6-phosphate isomerase like protein, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131459 GTEx
HGNC ID HGNC:4242 ENTREZGENE
Human Proteome Map GFPT2 Human Proteome Map
InterPro GATase_2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GFAT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlmS/AgaS_SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlmS/FrlB_SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlmS_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9945 ENTREZGENE
OMIM 603865 OMIM
PANTHER GLUCOSAMINE--FRUCTOSE-6-PHOSPHATE AMINOTRANSFERASE, ISOMERIZING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUTAMINE--FRUCTOSE-6-PHOSPHATE AMINOTRANSFERASE [ISOMERIZING] 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GATase_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GATase_7 UniProtKB/TrEMBL
  SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28652 PharmGKB
PROSITE GATASE_TYPE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53697 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4W6_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4X9 ENTREZGENE, UniProtKB/TrEMBL
  B3KMR8 ENTREZGENE, UniProtKB/TrEMBL
  D6RAC1_HUMAN UniProtKB/TrEMBL
  E5RJP4_HUMAN UniProtKB/TrEMBL
  GFPT2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53XM2 ENTREZGENE
  Q9BWS4 ENTREZGENE
UniProt Secondary Q53XM2 UniProtKB/Swiss-Prot
  Q9BWS4 UniProtKB/Swiss-Prot