SLC2A2 (solute carrier family 2 member 2) - Rat Genome Database

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Gene: SLC2A2 (solute carrier family 2 member 2) Homo sapiens
Analyze
Symbol: SLC2A2
Name: solute carrier family 2 member 2
RGD ID: 730861
HGNC Page HGNC
Description: Enables dehydroascorbic acid transmembrane transporter activity; fructose transmembrane transporter activity; and glucose transmembrane transporter activity. Involved in dehydroascorbic acid transport; fructose transmembrane transport; and glucose transmembrane transport. Located in plasma membrane. Implicated in Fanconi syndrome; glycogen storage disease; and type 2 diabetes mellitus. Biomarker of gastrinoma and insulinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glucose transporter type 2, liver; GLUT-2; GLUT2; solute carrier family 2 (facilitated glucose transporter), member 2; solute carrier family 2, facilitated glucose transporter member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3170,996,347 - 171,026,743 (-)EnsemblGRCh38hg38GRCh38
GRCh383170,996,341 - 171,026,721 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373170,714,136 - 170,744,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363172,196,831 - 172,227,462 (-)NCBINCBI36hg18NCBI36
Build 343172,196,838 - 172,227,470NCBI
Celera3169,114,036 - 169,144,639 (-)NCBI
Cytogenetic Map3q26.2NCBI
HuRef3168,084,022 - 168,114,636 (-)NCBIHuRef
CHM1_13170,677,320 - 170,707,971 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-deoxy-D-glucose  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-O-methyl-D-glucose  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (ISO)
5-iodotubercidin  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
9-cis-retinoic acid  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
alloxan  (ISO)
allyl isothiocyanate  (ISO)
alpha-D-galactose  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (EXP,ISO)
atrazine  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-maltose  (EXP)
bexarotene  (ISO)
bezafibrate  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
boric acid  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cis-caffeic acid  (EXP)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
cytochalasin B  (EXP,ISO)
D-glucose  (EXP,ISO)
D-mannopyranose  (ISO)
decabromodiphenyl ether  (ISO)
dehydroascorbic acid  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
diazoxide  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
Diosbulbin B  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
ebselen  (ISO)
endosulfan  (EXP,ISO)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (ISO)
fructose  (EXP,ISO)
furan  (ISO)
galactose  (EXP)
genistein  (ISO)
gentamycin  (ISO)
Ginsenoside Rh4  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glyburide  (ISO)
glycerol  (ISO)
heptachlor  (ISO)
hesperidin  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
indometacin  (ISO)
isoflavones  (ISO)
ketamine  (ISO)
L-dehydroascorbic acid  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
maltose  (EXP)
mercaptopurine  (ISO)
mercury dichloride  (ISO)
metacetamol  (ISO)
metformin  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methylglyoxal  (EXP)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
mirex  (ISO)
ML-7  (ISO)
monosodium L-glutamate  (ISO)
myricetin  (ISO)
myrtenal  (ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (EXP)
N-nitrosomorpholine  (ISO)
naringin  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
Nonylphenol  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oleic acid  (EXP)
oxycodone  (ISO)
paracetamol  (EXP,ISO)
penconazole  (ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phloretin  (EXP,ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
promethazine  (ISO)
propiconazole  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP)
quercetin 3-O-beta-D-galactopyranoside  (EXP)
rebaudioside A  (ISO)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
steviol  (ISO)
stevioside  (ISO)
streptozocin  (ISO)
styrene  (ISO)
sucrose  (ISO)
taurine  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
trans-caffeic acid  (EXP)
trichloroethene  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
zearalenone  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1852621   PMID:1862003   PMID:2656669   PMID:3399500   PMID:7589840   PMID:7593639   PMID:8063045   PMID:8457197   PMID:8482435   PMID:8626492   PMID:8923459   PMID:9266402  
PMID:9686354   PMID:9751501   PMID:10697967   PMID:10987651   PMID:11044475   PMID:11247674   PMID:11344224   PMID:11592815   PMID:11681785   PMID:11810292   PMID:11978637   PMID:11988093  
PMID:12017192   PMID:12477932   PMID:13480676   PMID:14551916   PMID:14614558   PMID:15009676   PMID:15889141   PMID:15983230   PMID:17065357   PMID:17141226   PMID:17192490   PMID:17204838  
PMID:18220613   PMID:18239936   PMID:18349384   PMID:19223655   PMID:19269875   PMID:19303158   PMID:19554504   PMID:19913121   PMID:20066028   PMID:20081858   PMID:20142250   PMID:20201351  
PMID:20419449   PMID:20424473   PMID:20564476   PMID:20628086   PMID:20800603   PMID:21832049   PMID:21852673   PMID:21920790   PMID:21943636   PMID:22001757   PMID:22145468   PMID:22214819  
PMID:22221271   PMID:22350464   PMID:22581228   PMID:22660720   PMID:22865906   PMID:22993150   PMID:23010768   PMID:23185617   PMID:23257979   PMID:23341889   PMID:23396969   PMID:23986439  
PMID:24236070   PMID:24824030   PMID:25165176   PMID:25523092   PMID:25687571   PMID:25711084   PMID:25776730   PMID:25919556   PMID:26112465   PMID:27500523   PMID:27858715   PMID:28083649  
PMID:28477418   PMID:28514442   PMID:28641978   PMID:29329106   PMID:29677207   PMID:29913554   PMID:29987050   PMID:30132032   PMID:30413829   PMID:30950137   PMID:31407220   PMID:31473689  
PMID:32556999   PMID:32589140   PMID:32617672   PMID:33199025   PMID:33287738   PMID:34035238  


Genomics

Candidate Gene Status
SLC2A2 is a candidate Gene for QTL BW262_H
Comparative Map Data
SLC2A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3170,996,347 - 171,026,743 (-)EnsemblGRCh38hg38GRCh38
GRCh383170,996,341 - 171,026,721 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373170,714,136 - 170,744,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363172,196,831 - 172,227,462 (-)NCBINCBI36hg18NCBI36
Build 343172,196,838 - 172,227,470NCBI
Celera3169,114,036 - 169,144,639 (-)NCBI
Cytogenetic Map3q26.2NCBI
HuRef3168,084,022 - 168,114,636 (-)NCBIHuRef
CHM1_13170,677,320 - 170,707,971 (-)NCBICHM1_1
Slc2a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39328,752,052 - 28,782,510 (+)NCBIGRCm39mm39
GRCm39 Ensembl328,752,052 - 28,785,508 (+)Ensembl
GRCm38328,697,903 - 28,728,361 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl328,697,903 - 28,731,359 (+)EnsemblGRCm38mm10GRCm38
MGSCv37328,596,825 - 28,627,283 (+)NCBIGRCm37mm9NCBIm37
MGSCv36328,889,050 - 28,919,403 (+)NCBImm8
Celera328,651,848 - 28,682,069 (+)NCBICelera
Cytogenetic Map3A3NCBI
cM Map312.19NCBI
Slc2a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22111,609,798 - 111,639,930 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2111,611,774 - 111,639,933 (+)Ensembl
Rnor_6.02114,413,427 - 114,445,418 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2114,413,410 - 114,445,395 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02134,112,829 - 134,144,459 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42116,036,501 - 116,065,834 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12115,981,388 - 116,010,832 (+)NCBI
Celera2106,800,647 - 106,828,175 (+)NCBICelera
Cytogenetic Map2q24NCBI
Slc2a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554201,101,769 - 1,129,715 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554201,101,769 - 1,129,672 (-)NCBIChiLan1.0ChiLan1.0
SLC2A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13176,188,184 - 176,218,722 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3176,188,184 - 176,218,722 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03168,002,609 - 168,033,237 (-)NCBIMhudiblu_PPA_v0panPan3
SLC2A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13435,368,583 - 35,398,197 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3435,370,192 - 35,400,409 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3444,378,744 - 44,410,779 (-)NCBI
ROS_Cfam_1.03435,449,090 - 35,481,171 (-)NCBI
UMICH_Zoey_3.13435,390,307 - 35,422,083 (-)NCBI
UNSW_CanFamBas_1.03435,359,864 - 35,391,881 (-)NCBI
UU_Cfam_GSD_1.03435,623,885 - 35,655,904 (-)NCBI
Slc2a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602102,013,626 - 102,049,304 (-)NCBI
SpeTri2.0NW_0049365931,572,661 - 1,605,071 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC2A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13109,587,256 - 109,623,787 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113109,592,595 - 109,614,105 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213118,535,745 - 118,557,254 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC2A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11518,434,370 - 18,466,331 (+)NCBI
ChlSab1.1 Ensembl1518,434,916 - 18,467,352 (+)Ensembl
Vero_WHO_p1.0NW_02366606327,204,593 - 27,235,096 (+)NCBI
Slc2a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473049,026,603 - 49,056,363 (-)NCBI

Position Markers
SHGC-77535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,714,198 - 170,714,373UniSTSGRCh37
Build 363172,196,892 - 172,197,067RGDNCBI36
Celera3169,114,097 - 169,114,272RGD
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,084,083 - 168,084,258UniSTS
TNG Radiation Hybrid Map395535.0UniSTS
GeneMap99-GB4 RH Map3635.57UniSTS
NCBI RH Map31550.6UniSTS
GDB:180741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,736,789 - 170,736,998UniSTSGRCh37
Build 363172,219,483 - 172,219,692RGDNCBI36
Celera3169,136,688 - 169,136,869RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,106,676 - 168,106,859UniSTS
GDB:181209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,715,126 - 170,715,661UniSTSGRCh37
Build 363172,197,820 - 172,198,355RGDNCBI36
Celera3169,115,025 - 169,115,560RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,085,011 - 168,085,546UniSTS
GDB:188623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,727,622 - 170,727,780UniSTSGRCh37
Build 363172,210,316 - 172,210,474RGDNCBI36
Celera3169,127,521 - 169,127,679RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,097,507 - 168,097,667UniSTS
WI-11773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,736,043 - 170,736,170UniSTSGRCh37
Build 363172,218,737 - 172,218,864RGDNCBI36
Celera3169,135,942 - 169,136,069RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,105,930 - 168,106,057UniSTS
GeneMap99-GB4 RH Map3634.93UniSTS
Whitehead-RH Map3773.7UniSTS
NCBI RH Map31550.6UniSTS
SHGC-77533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,715,664 - 170,715,894UniSTSGRCh37
Build 363172,198,358 - 172,198,588RGDNCBI36
Celera3169,115,563 - 169,115,793RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,085,549 - 168,085,779UniSTS
TNG Radiation Hybrid Map395535.0UniSTS
GeneMap99-GB4 RH Map3635.57UniSTS
NCBI RH Map31550.6UniSTS
SLC2A2_841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,714,034 - 170,714,776UniSTSGRCh37
Build 363172,196,728 - 172,197,470RGDNCBI36
Celera3169,113,933 - 169,114,675RGD
HuRef3168,083,919 - 168,084,661UniSTS
D3S1355E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,735,358 - 170,735,477UniSTSGRCh37
Build 363172,218,052 - 172,218,171RGDNCBI36
Celera3169,135,257 - 169,135,376RGD
HuRef3168,105,245 - 168,105,364UniSTS
RH70213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,727,627 - 170,727,767UniSTSGRCh37
Build 363172,210,321 - 172,210,461RGDNCBI36
Celera3169,127,526 - 169,127,666RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,097,512 - 168,097,654UniSTS
GeneMap99-GB4 RH Map3635.57UniSTS
NCBI RH Map31550.6UniSTS
RH68967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,714,358 - 170,714,500UniSTSGRCh37
Build 363172,197,052 - 172,197,194RGDNCBI36
Celera3169,114,257 - 169,114,399RGD
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,084,243 - 168,084,385UniSTS
GeneMap99-GB4 RH Map3635.57UniSTS
NCBI RH Map31550.6UniSTS
D3S3881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,715,556 - 170,715,673UniSTSGRCh37
Build 363172,198,250 - 172,198,367RGDNCBI36
Celera3169,115,455 - 169,115,572RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,085,441 - 168,085,558UniSTS
Stanford-G3 RH Map37799.0UniSTS
NCBI RH Map31547.6UniSTS
GeneMap99-G3 RH Map38269.0UniSTS
STS-H60870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,725,046 - 170,725,230UniSTSGRCh37
Build 363172,207,740 - 172,207,924RGDNCBI36
Celera3169,124,945 - 169,125,129RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3168,094,931 - 168,095,115UniSTS
TNG Radiation Hybrid Map395535.0UniSTS
GeneMap99-GB4 RH Map3635.57UniSTS
NCBI RH Map31550.6UniSTS
SLC2A2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373170,715,798 - 170,716,157UniSTSGRCh37
Build 363172,198,492 - 172,198,851RGDNCBI36
Celera3169,115,697 - 169,116,056RGD
HuRef3168,085,683 - 168,086,042UniSTS
RH69731  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q26.1-q26.2UniSTS
GeneMap99-GB4 RH Map3635.78UniSTS
NCBI RH Map31550.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2622
Count of miRNA genes:680
Interacting mature miRNAs:743
Transcripts:ENST00000314251, ENST00000382808, ENST00000461867, ENST00000469787, ENST00000471379, ENST00000497642
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 2 2 2
Medium 97 1 421 421 86 423 1 147 2 3
Low 83 36 50 23 89 23 17 6 26 131 38 13 6 8
Below cutoff 748 934 552 52 508 8 1160 577 1431 49 721 509 45 380 808

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC061708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC890011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC901936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S41308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000314251   ⟹   ENSP00000323568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3170,996,347 - 171,026,720 (-)Ensembl
RefSeq Acc Id: ENST00000461867   ⟹   ENSP00000418888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,005,420 - 171,018,623 (-)Ensembl
RefSeq Acc Id: ENST00000469787   ⟹   ENSP00000417918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3170,997,755 - 171,026,743 (-)Ensembl
RefSeq Acc Id: ENST00000471379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,005,416 - 171,007,470 (-)Ensembl
RefSeq Acc Id: ENST00000497642   ⟹   ENSP00000418456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3170,996,820 - 171,026,720 (-)Ensembl
RefSeq Acc Id: NM_000340   ⟹   NP_000331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383170,996,347 - 171,026,720 (-)NCBI
GRCh373170,714,137 - 170,744,768 (-)ENTREZGENE
GRCh373170,714,137 - 170,744,768 (-)NCBI
Build 363172,196,831 - 172,227,462 (-)NCBI Archive
HuRef3168,084,022 - 168,114,636 (-)ENTREZGENE
CHM1_13170,677,320 - 170,707,971 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278658   ⟹   NP_001265587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383170,996,347 - 171,026,720 (-)NCBI
HuRef3168,084,022 - 168,114,636 (-)NCBI
CHM1_13170,677,320 - 170,707,971 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278659   ⟹   NP_001265588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383170,996,347 - 171,026,720 (-)NCBI
GRCh373170,714,137 - 170,744,768 (-)NCBI
HuRef3168,084,022 - 168,114,636 (-)NCBI
CHM1_13170,677,320 - 170,707,971 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513087   ⟹   XP_011511389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383170,996,341 - 171,026,677 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453720   ⟹   XP_024309488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383170,996,341 - 171,026,721 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000331   ⟸   NM_000340
- Peptide Label: isoform 1
- UniProtKB: P11168 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265587   ⟸   NM_001278658
- Peptide Label: isoform 2
- UniProtKB: P11168 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265588   ⟸   NM_001278659
- Peptide Label: isoform 3
- UniProtKB: P11168 (UniProtKB/Swiss-Prot),   Q6PAU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511389   ⟸   XM_011513087
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024309488   ⟸   XM_024453720
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000417918   ⟸   ENST00000469787
RefSeq Acc Id: ENSP00000418456   ⟸   ENST00000497642
RefSeq Acc Id: ENSP00000323568   ⟸   ENST00000314251
RefSeq Acc Id: ENSP00000418888   ⟸   ENST00000461867
Protein Domains
MFS

Promoters
RGD ID:6866276
Promoter ID:EPDNEW_H6303
Type:initiation region
Name:SLC2A2_1
Description:solute carrier family 2 member 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
GRCh383171,026,720 - 171,026,780EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV000017470]|Monogenic diabetes [RCV000445382] Chr3:171007171 [GRCh38]
Chr3:170724960 [GRCh37]
Chr3:3q26.2
pathogenic|risk factor|uncertain significance
SLC2A2, 1-BP DEL deletion Fanconi-Bickel syndrome [RCV000017471] Chr3:3q26.1-q26.3 pathogenic
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) single nucleotide variant Fanconi-Bickel syndrome [RCV000017472] Chr3:170999142 [GRCh38]
Chr3:170716931 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) single nucleotide variant Fanconi-Bickel syndrome [RCV000017473] Chr3:171005347 [GRCh38]
Chr3:170723136 [GRCh37]
Chr3:3q26.2
pathogenic
SLC2A2, 1405C-T single nucleotide variant Fanconi-Bickel syndrome [RCV000017474] Chr3:3q26.1-q26.3 pathogenic
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) single nucleotide variant Fanconi-Bickel syndrome [RCV000017475] Chr3:170998317 [GRCh38]
Chr3:170716106 [GRCh37]
Chr3:3q26.2
pathogenic|likely pathogenic
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter) single nucleotide variant Fanconi-Bickel syndrome [RCV000017476] Chr3:170998308 [GRCh38]
Chr3:170716097 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.1051del (p.Val351fs) deletion Fanconi-Bickel syndrome [RCV000017477] Chr3:171002593 [GRCh38]
Chr3:170720382 [GRCh37]
Chr3:3q26.2
pathogenic
SLC2A2, 1-BP INS, 793C insertion Fanconi-Bickel syndrome [RCV000017478] Chr3:3q26.1-q26.3 pathogenic
SLC2A2, 1264G-A single nucleotide variant Fanconi-Bickel syndrome [RCV000017479] Chr3:3q26.1-q26.3 pathogenic
SLC2A2, 469C-T single nucleotide variant Fanconi-Bickel syndrome [RCV000017480] Chr3:3q26.1-q26.3 pathogenic
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu) single nucleotide variant Fanconi-Bickel syndrome [RCV000017481] Chr3:170998299 [GRCh38]
Chr3:170716088 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.109-2A>G single nucleotide variant Fanconi-Bickel syndrome [RCV000017482] Chr3:171014733 [GRCh38]
Chr3:170732522 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter) single nucleotide variant Fanconi-Bickel syndrome [RCV000017483] Chr3:171005389 [GRCh38]
Chr3:170723178 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) single nucleotide variant Fanconi-Bickel syndrome [RCV000017484] Chr3:170999069 [GRCh38]
Chr3:170716858 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) deletion Fanconi-Bickel syndrome [RCV000527547] Chr3:171014601 [GRCh38]
Chr3:170732390 [GRCh37]
Chr3:3q26.2
pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) single nucleotide variant Fanconi-Bickel syndrome [RCV000970650]|Monogenic diabetes [RCV000664086] Chr3:170997922 [GRCh38]
Chr3:170715711 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) single nucleotide variant Fanconi-Bickel syndrome [RCV000330469]|not provided [RCV000675652]|not specified [RCV000118386] Chr3:170998041 [GRCh38]
Chr3:170715830 [GRCh37]
Chr3:3q26.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) single nucleotide variant Fanconi-Bickel syndrome [RCV000370969]|not provided [RCV000675656]|not specified [RCV000118387] Chr3:171014511 [GRCh38]
Chr3:170732300 [GRCh37]
Chr3:3q26.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000340.2(SLC2A2):c.496+8A>T single nucleotide variant Fanconi-Bickel syndrome [RCV000261186]|not provided [RCV000675655]|not specified [RCV000118388] Chr3:171009950 [GRCh38]
Chr3:170727739 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) single nucleotide variant Fanconi-Bickel syndrome [RCV000300639]|not provided [RCV000675654]|not specified [RCV000118389] Chr3:171007166 [GRCh38]
Chr3:170724955 [GRCh37]
Chr3:3q26.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) single nucleotide variant Fanconi-Bickel syndrome [RCV001147820]|not provided [RCV000180494] Chr3:170999148 [GRCh38]
Chr3:170716937 [GRCh37]
Chr3:3q26.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) single nucleotide variant Fanconi-Bickel syndrome [RCV000972183]|Monogenic diabetes [RCV000664087]|not specified [RCV000599891] Chr3:171014637 [GRCh38]
Chr3:170732426 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) single nucleotide variant Fanconi-Bickel syndrome [RCV000274009]|not specified [RCV000253307] Chr3:171014593 [GRCh38]
Chr3:170732382 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_000340.2(SLC2A2):c.*1260A>G single nucleotide variant Fanconi-Bickel syndrome [RCV000267754] Chr3:170996643 [GRCh38]
Chr3:170714432 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_000340.2(SLC2A2):c.*930_*934del deletion Fanconi-Bickel syndrome [RCV000279206] Chr3:170996969..170996973 [GRCh38]
Chr3:170714758..170714762 [GRCh37]
Chr3:3q26.2
likely benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_000340.2(SLC2A2):c.*8del (p.Ter525=) deletion Fanconi-Bickel syndrome [RCV000278027]|not specified [RCV000244425] Chr3:170997895 [GRCh38]
Chr3:170715684 [GRCh37]
Chr3:3q26.2
benign|uncertain significance
NM_000340.2(SLC2A2):c.-2C>A single nucleotide variant not specified [RCV000249623] Chr3:171026672 [GRCh38]
Chr3:170744461 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.776-15C>T single nucleotide variant Fanconi-Bickel syndrome [RCV000301722]|not provided [RCV000675653]|not specified [RCV000242540] Chr3:171005487 [GRCh38]
Chr3:170723276 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) single nucleotide variant Fanconi-Bickel syndrome [RCV000960501]|Monogenic diabetes [RCV001174383]|not specified [RCV000245094] Chr3:171014539 [GRCh38]
Chr3:170732328 [GRCh37]
Chr3:3q26.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) single nucleotide variant Fanconi-Bickel syndrome [RCV000968998]|not specified [RCV000250360] Chr3:171006057 [GRCh38]
Chr3:170723846 [GRCh37]
Chr3:3q26.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000340.2(SLC2A2):c.1069-9T>C single nucleotide variant Fanconi-Bickel syndrome [RCV000288706]|not specified [RCV000252763] Chr3:170999175 [GRCh38]
Chr3:170716964 [GRCh37]
Chr3:3q26.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000340.2(SLC2A2):c.109-19A>G single nucleotide variant not specified [RCV000243350] Chr3:171014750 [GRCh38]
Chr3:170732539 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.-48G>A single nucleotide variant Fanconi-Bickel syndrome [RCV000272849] Chr3:171026718 [GRCh38]
Chr3:170744507 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.496+6_496+7dup duplication Fanconi-Bickel syndrome [RCV000314039]|not provided [RCV000907964]|not specified [RCV000486949] Chr3:171009950..171009951 [GRCh38]
Chr3:170727739..170727740 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val) single nucleotide variant Fanconi-Bickel syndrome [RCV000353212] Chr3:171007180 [GRCh38]
Chr3:170724969 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*1222T>A single nucleotide variant Fanconi-Bickel syndrome [RCV000377586] Chr3:170996681 [GRCh38]
Chr3:170714470 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.*11C>G single nucleotide variant Fanconi-Bickel syndrome [RCV000317787] Chr3:170997892 [GRCh38]
Chr3:170715681 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*234C>A single nucleotide variant Fanconi-Bickel syndrome [RCV000318519]|not provided [RCV001575143] Chr3:170997669 [GRCh38]
Chr3:170715458 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_000340.2(SLC2A2):c.*153A>G single nucleotide variant Fanconi-Bickel syndrome [RCV000356979] Chr3:170997750 [GRCh38]
Chr3:170715539 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*1086G>A single nucleotide variant Fanconi-Bickel syndrome [RCV000319188] Chr3:170996817 [GRCh38]
Chr3:170714606 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*356A>T single nucleotide variant Fanconi-Bickel syndrome [RCV000358229] Chr3:170997547 [GRCh38]
Chr3:170715336 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=) single nucleotide variant Fanconi-Bickel syndrome [RCV000380801] Chr3:170998346 [GRCh38]
Chr3:170716135 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) microsatellite Fanconi-Bickel syndrome [RCV000403776] Chr3:171005443..171005445 [GRCh38]
Chr3:170723232..170723234 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*1257C>T single nucleotide variant Fanconi-Bickel syndrome [RCV000320576] Chr3:170996646 [GRCh38]
Chr3:170714435 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.612+10C>A single nucleotide variant Fanconi-Bickel syndrome [RCV000405753] Chr3:171007138 [GRCh38]
Chr3:170724927 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*607del deletion Fanconi-Bickel syndrome [RCV000405807] Chr3:170997296 [GRCh38]
Chr3:170715085 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) single nucleotide variant Fanconi-Bickel syndrome [RCV000290819] Chr3:170998076 [GRCh38]
Chr3:170715865 [GRCh37]
Chr3:3q26.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000340.2(SLC2A2):c.*474A>G single nucleotide variant Fanconi-Bickel syndrome [RCV000305826] Chr3:170997429 [GRCh38]
Chr3:170715218 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr) single nucleotide variant Fanconi-Bickel syndrome [RCV000341235] Chr3:171002605 [GRCh38]
Chr3:170720394 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*486T>C single nucleotide variant Fanconi-Bickel syndrome [RCV000364162] Chr3:170997417 [GRCh38]
Chr3:170715206 [GRCh37]
Chr3:3q26.2
likely benign|uncertain significance
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) single nucleotide variant Fanconi-Bickel syndrome [RCV000387347]|Type 2 diabetes mellitus [RCV000764476]|not provided [RCV000415930] Chr3:170998046 [GRCh38]
Chr3:170715835 [GRCh37]
Chr3:3q26.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000340.1(SLC2A2):c.-238A>G single nucleotide variant Fanconi-Bickel syndrome [RCV000326534] Chr3:171026908 [GRCh38]
Chr3:170744697 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His) single nucleotide variant Fanconi-Bickel syndrome [RCV000348110] Chr3:170998272 [GRCh38]
Chr3:170716061 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*796T>C single nucleotide variant Fanconi-Bickel syndrome [RCV000392482] Chr3:170997107 [GRCh38]
Chr3:170714896 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*725G>C single nucleotide variant Fanconi-Bickel syndrome [RCV000349697] Chr3:170997178 [GRCh38]
Chr3:170714967 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_000340.2(SLC2A2):c.*1059del deletion Fanconi-Bickel syndrome [RCV000371497] Chr3:170996844 [GRCh38]
Chr3:170714633 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.*476T>C single nucleotide variant Fanconi-Bickel syndrome [RCV000394372] Chr3:170997427 [GRCh38]
Chr3:170715216 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys) single nucleotide variant Fanconi-Bickel syndrome [RCV000331437] Chr3:171014634 [GRCh38]
Chr3:170732423 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*909C>T single nucleotide variant Fanconi-Bickel syndrome [RCV000350617] Chr3:170996994 [GRCh38]
Chr3:170714783 [GRCh37]
Chr3:3q26.2
benign|likely benign
NM_000340.2(SLC2A2):c.*1164T>C single nucleotide variant Fanconi-Bickel syndrome [RCV000280824] Chr3:170996739 [GRCh38]
Chr3:170714528 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*94del deletion Fanconi-Bickel syndrome [RCV000260276] Chr3:170997809 [GRCh38]
Chr3:170715598 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=) duplication Fanconi-Bickel syndrome [RCV000388752] Chr3:170997894..170997895 [GRCh38]
Chr3:170715683..170715684 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*325del deletion Fanconi-Bickel syndrome [RCV000265825] Chr3:170997578 [GRCh38]
Chr3:170715367 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) single nucleotide variant Fanconi-Bickel syndrome [RCV001147021]|Type 2 diabetes mellitus [RCV000764477]|not provided [RCV000490046] Chr3:171014682 [GRCh38]
Chr3:170732471 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*726T>C single nucleotide variant Fanconi-Bickel syndrome [RCV000292273] Chr3:170997177 [GRCh38]
Chr3:170714966 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.15+6G>A single nucleotide variant Fanconi-Bickel syndrome [RCV000383572] Chr3:171026650 [GRCh38]
Chr3:170744439 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*568A>T single nucleotide variant Fanconi-Bickel syndrome [RCV000307116] Chr3:170997335 [GRCh38]
Chr3:170715124 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=) single nucleotide variant Fanconi-Bickel syndrome [RCV000340226] Chr3:171006079 [GRCh38]
Chr3:170723868 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) duplication Fanconi-Bickel syndrome [RCV000626196] Chr3:171002600..171002601 [GRCh38]
Chr3:170720389..170720390 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.613-1G>C single nucleotide variant Fanconi-Bickel syndrome [RCV000626238] Chr3:171006106 [GRCh38]
Chr3:170723895 [GRCh37]
Chr3:3q26.2
pathogenic|likely pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
NM_000340.2(SLC2A2):c.240T>C (p.Pro80=) single nucleotide variant not specified [RCV000434761] Chr3:171014600 [GRCh38]
Chr3:170732389 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=) single nucleotide variant Fanconi-Bickel syndrome [RCV001479818]|not specified [RCV000424384] Chr3:171014678 [GRCh38]
Chr3:170732467 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.1038C>T (p.Gly346=) single nucleotide variant not specified [RCV000424641] Chr3:171002606 [GRCh38]
Chr3:170720395 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=) single nucleotide variant not specified [RCV000437213] Chr3:170998316 [GRCh38]
Chr3:170716105 [GRCh37]
Chr3:3q26.2
likely benign
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_000340.1(SLC2A2):c.496+7_496+8insTC insertion not specified [RCV000486949] Chr3:171009950..171009951 [GRCh38]
Chr3:170727739..170727740 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter) single nucleotide variant Type 2 diabetes mellitus [RCV000510336] Chr3:170998236 [GRCh38]
Chr3:170716025 [GRCh37]
Chr3:3q26.2
affects
NM_000340.2(SLC2A2):c.963+1G>A single nucleotide variant Fanconi-Bickel syndrome [RCV001387331]|Type 2 diabetes mellitus [RCV000511807] Chr3:171005284 [GRCh38]
Chr3:170723073 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) single nucleotide variant Fanconi-Bickel syndrome [RCV000490904] Chr3:171006093 [GRCh38]
Chr3:170723882 [GRCh37]
Chr3:3q26.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) single nucleotide variant Fanconi-Bickel syndrome [RCV000513671] Chr3:170998321 [GRCh38]
Chr3:170716110 [GRCh37]
Chr3:3q26.2
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000340.2(SLC2A2):c.372-16C>T single nucleotide variant not specified [RCV000609662] Chr3:171010098 [GRCh38]
Chr3:170727887 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=) single nucleotide variant Fanconi-Bickel syndrome [RCV001478172]|not specified [RCV000606965] Chr3:171005396 [GRCh38]
Chr3:170723185 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs) microsatellite Fanconi-Bickel syndrome [RCV000625589] Chr3:170998208..170998209 [GRCh38]
Chr3:170715997..170715998 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.775+1G>A single nucleotide variant Fanconi-Bickel syndrome [RCV001060330]|not provided [RCV000594596] Chr3:171005942 [GRCh38]
Chr3:170723731 [GRCh37]
Chr3:3q26.2
pathogenic|likely pathogenic
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) single nucleotide variant Fanconi-Bickel syndrome [RCV000650225]|not provided [RCV001355604] Chr3:171007167 [GRCh38]
Chr3:170724956 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) single nucleotide variant Fanconi-Bickel syndrome [RCV000650226] Chr3:170999066 [GRCh38]
Chr3:170716855 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA insertion Fanconi-Bickel syndrome [RCV000650227] Chr3:171009950..171009951 [GRCh38]
Chr3:170727739..170727740 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=) single nucleotide variant not specified [RCV000610873] Chr3:170999158 [GRCh38]
Chr3:170716947 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.588C>T (p.Ile196=) single nucleotide variant not specified [RCV000608973] Chr3:171007172 [GRCh38]
Chr3:170724961 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.963+18C>T single nucleotide variant not specified [RCV000609291] Chr3:171005267 [GRCh38]
Chr3:170723056 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) deletion Fanconi-Bickel syndrome [RCV000702449] Chr3:171006007..171006010 [GRCh38]
Chr3:170723796..170723799 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) indel Fanconi-Bickel syndrome [RCV000699759] Chr3:170997988..170997989 [GRCh38]
Chr3:170715777..170715778 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1069-10A>G single nucleotide variant Fanconi-Bickel syndrome [RCV000690408] Chr3:170999176 [GRCh38]
Chr3:170716965 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) duplication Fanconi-Bickel syndrome [RCV000695619] Chr3:171002673..171002674 [GRCh38]
Chr3:170720462..170720463 [GRCh37]
Chr3:3q26.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000340.2(SLC2A2):c.*1303T>C single nucleotide variant Fanconi-Bickel syndrome [RCV001147710] Chr3:170996600 [GRCh38]
Chr3:170714389 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.496+10A>T single nucleotide variant Fanconi-Bickel syndrome [RCV000967690] Chr3:171009948 [GRCh38]
Chr3:170727737 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.593C>A (p.Thr198Lys) single nucleotide variant Fanconi-Bickel syndrome [RCV001433182]|not provided [RCV000966440] Chr3:171007167 [GRCh38]
Chr3:170724956 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) microsatellite Fanconi-Bickel syndrome [RCV000778688] Chr3:171014723..171014725 [GRCh38]
Chr3:170732512..170732514 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.775+9G>A single nucleotide variant not provided [RCV000897151] Chr3:171005934 [GRCh38]
Chr3:170723723 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.16-9C>G single nucleotide variant not provided [RCV000884801] Chr3:171018632 [GRCh38]
Chr3:170736421 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.*1349C>T single nucleotide variant Fanconi-Bickel syndrome [RCV001146823] Chr3:170996554 [GRCh38]
Chr3:170714343 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.*1004G>A single nucleotide variant Fanconi-Bickel syndrome [RCV001151061] Chr3:170996899 [GRCh38]
Chr3:170714688 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*960T>G single nucleotide variant Fanconi-Bickel syndrome [RCV001151062] Chr3:170996943 [GRCh38]
Chr3:170714732 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*1531A>G single nucleotide variant Fanconi-Bickel syndrome [RCV001146821] Chr3:170996372 [GRCh38]
Chr3:170714161 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*166G>A single nucleotide variant Fanconi-Bickel syndrome [RCV001146911] Chr3:170997737 [GRCh38]
Chr3:170715526 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser) single nucleotide variant Fanconi-Bickel syndrome [RCV000810094] Chr3:171010075 [GRCh38]
Chr3:170727864 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.963+14C>T single nucleotide variant not provided [RCV000841373] Chr3:171005271 [GRCh38]
Chr3:170723060 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.*698T>A single nucleotide variant Fanconi-Bickel syndrome [RCV001151064] Chr3:170997205 [GRCh38]
Chr3:170714994 [GRCh37]
Chr3:3q26.2
uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_000340.2(SLC2A2):c.971A>G (p.Tyr324Cys) single nucleotide variant Monogenic diabetes [RCV001174382] Chr3:171002673 [GRCh38]
Chr3:170720462 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr) single nucleotide variant Fanconi-Bickel syndrome [RCV001145064] Chr3:171014652 [GRCh38]
Chr3:170732441 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) single nucleotide variant Fanconi-Bickel syndrome [RCV001149360] Chr3:171007239 [GRCh38]
Chr3:170725028 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*83A>T single nucleotide variant Fanconi-Bickel syndrome [RCV001146912] Chr3:170997820 [GRCh38]
Chr3:170715609 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.10G>C (p.Asp4His) single nucleotide variant Monogenic diabetes [RCV001174384] Chr3:171026661 [GRCh38]
Chr3:170744450 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*1207G>A single nucleotide variant Fanconi-Bickel syndrome [RCV001147711] Chr3:170996696 [GRCh38]
Chr3:170714485 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*1201T>C single nucleotide variant Fanconi-Bickel syndrome [RCV001147712] Chr3:170996702 [GRCh38]
Chr3:170714491 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) single nucleotide variant Fanconi-Bickel syndrome [RCV001147821] Chr3:171002649 [GRCh38]
Chr3:170720438 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=) single nucleotide variant Fanconi-Bickel syndrome [RCV000913854] Chr3:170999071 [GRCh38]
Chr3:170716860 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.*254T>G single nucleotide variant Fanconi-Bickel syndrome [RCV001144964] Chr3:170997649 [GRCh38]
Chr3:170715438 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.*325T>A single nucleotide variant Fanconi-Bickel syndrome [RCV001144963] Chr3:170997578 [GRCh38]
Chr3:170715367 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.372-4T>C single nucleotide variant Fanconi-Bickel syndrome [RCV001145063] Chr3:171010086 [GRCh38]
Chr3:170727875 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.775+68T>C single nucleotide variant not provided [RCV001541591] Chr3:171005875 [GRCh38]
Chr3:170723664 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.612+208G>A single nucleotide variant not provided [RCV001538159] Chr3:171006940 [GRCh38]
Chr3:170724729 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) duplication Fanconi-Bickel syndrome [RCV001060329] Chr3:171014658..171014659 [GRCh38]
Chr3:170732447..170732448 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.*920A>C single nucleotide variant Fanconi-Bickel syndrome [RCV001151063] Chr3:170996983 [GRCh38]
Chr3:170714772 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.*170G>A single nucleotide variant Fanconi-Bickel syndrome [RCV001146910] Chr3:170997733 [GRCh38]
Chr3:170715522 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=) single nucleotide variant Fanconi-Bickel syndrome [RCV001145062] Chr3:171009959 [GRCh38]
Chr3:170727748 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.497-2A>G single nucleotide variant Fanconi-Bickel syndrome [RCV001054596] Chr3:171007265 [GRCh38]
Chr3:170725054 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.*1420T>C single nucleotide variant Fanconi-Bickel syndrome [RCV001146822] Chr3:170996483 [GRCh38]
Chr3:170714272 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.841del (p.Glu281fs) deletion Fanconi-Bickel syndrome [RCV001336805] Chr3:171005407 [GRCh38]
Chr3:170723196 [GRCh37]
Chr3:3q26.2
pathogenic
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His) single nucleotide variant Fanconi-Bickel syndrome [RCV001302354] Chr3:170998090 [GRCh38]
Chr3:170715879 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr) single nucleotide variant Fanconi-Bickel syndrome [RCV001306912] Chr3:170999117 [GRCh38]
Chr3:170716906 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.76T>C (p.Tyr26His) single nucleotide variant Type 2 diabetes mellitus [RCV001329195] Chr3:171018563 [GRCh38]
Chr3:170736352 [GRCh37]
Chr3:3q26.2
uncertain significance
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter) single nucleotide variant Fanconi-Bickel syndrome [RCV001350487] Chr3:170998208 [GRCh38]
Chr3:170715997 [GRCh37]
Chr3:3q26.2
uncertain significance
NC_000003.11:g.170744893G>A single nucleotide variant Fanconi-Bickel syndrome [RCV001522188] Chr3:171027104 [GRCh38]
Chr3:170744893 [GRCh37]
Chr3:3q26.2
benign
NC_000003.11:g.170744920T>G single nucleotide variant Fanconi-Bickel syndrome [RCV001522189] Chr3:171027131 [GRCh38]
Chr3:170744920 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=) single nucleotide variant Fanconi-Bickel syndrome [RCV001448745] Chr3:171018600 [GRCh38]
Chr3:170736389 [GRCh37]
Chr3:3q26.2
likely benign
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=) single nucleotide variant Fanconi-Bickel syndrome [RCV001401644] Chr3:171005297 [GRCh38]
Chr3:170723086 [GRCh37]
Chr3:3q26.2
likely benign
NC_000003.11:g.170744815T>C single nucleotide variant Fanconi-Bickel syndrome [RCV001518116] Chr3:171027026 [GRCh38]
Chr3:170744815 [GRCh37]
Chr3:3q26.2
benign
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=) single nucleotide variant Fanconi-Bickel syndrome [RCV001502798] Chr3:170998298 [GRCh38]
Chr3:170716087 [GRCh37]
Chr3:3q26.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11006 AgrOrtholog
COSMIC SLC2A2 COSMIC
Ensembl Genes ENSG00000163581 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000323568 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417918 UniProtKB/TrEMBL
  ENSP00000418456 UniProtKB/TrEMBL
  ENSP00000418888 UniProtKB/TrEMBL
Ensembl Transcript ENST00000314251 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000461867 UniProtKB/TrEMBL
  ENST00000469787 UniProtKB/TrEMBL
  ENST00000497642 UniProtKB/TrEMBL
GTEx ENSG00000163581 GTEx
HGNC ID HGNC:11006 ENTREZGENE
Human Proteome Map SLC2A2 Human Proteome Map
InterPro Glc_transpt_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_sugar_transport-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sugar/inositol_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sugar_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6514 UniProtKB/Swiss-Prot
NCBI Gene 6514 ENTREZGENE
OMIM 125853 OMIM
  138160 OMIM
  227810 OMIM
Pfam Sugar_tr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35876 PharmGKB, RGD
PRINTS GLUCTRSPORT2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGRTRNSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGAR_TRANSPORT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGAR_TRANSPORT_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs TIGR00879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DH64_HUMAN UniProtKB/TrEMBL
  C9J0E8_HUMAN UniProtKB/TrEMBL
  F8WBJ2_HUMAN UniProtKB/TrEMBL
  GTR2_HUMAN UniProtKB/Swiss-Prot
  L8E6W0_HUMAN UniProtKB/TrEMBL
  P11168 ENTREZGENE
  Q6PAU8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K481 UniProtKB/Swiss-Prot
  B2R936 UniProtKB/Swiss-Prot
  B7Z547 UniProtKB/Swiss-Prot
  F8W8V8 UniProtKB/Swiss-Prot
  Q9UCW9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC2A2  solute carrier family 2 member 2    solute carrier family 2 (facilitated glucose transporter), member 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 SLC2A2  solute carrier family 2 (facilitated glucose transporter), member 2  SLC2A2  solute carrier family 2 (facilitated glucose transporter), member 2  Symbol and/or name change 5135510 APPROVED