SLC2A5 (solute carrier family 2 member 5) - Rat Genome Database

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Gene: SLC2A5 (solute carrier family 2 member 5) Homo sapiens
Analyze
Symbol: SLC2A5
Name: solute carrier family 2 member 5
RGD ID: 68456
HGNC Page HGNC:11010
Description: Enables fructose transmembrane transporter activity. Involved in fructose import across plasma membrane. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: fructose transporter; glucose transporter type 5, small intestine; glucose transporter-like protein 5; GLUT-5; GLUT5; solute carrier family 2 (facilitated glucose transporter), member 5; solute carrier family 2 (facilitated glucose/fructose transporter), member 5; solute carrier family 2, facilitated glucose transporter member 5; solute carrier family 2, member 5; testicular tissue protein Li 81
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
GRCh3819,035,106 - 9,094,195 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19,035,106 - 9,088,478 (-)EnsemblGRCh38hg38GRCh38
GRCh3719,095,165 - 9,132,318 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,019,594 - 9,052,257 (-)NCBINCBI36Build 36hg18NCBI36
Build 3419,031,272 - 9,063,936NCBI
Celera18,205,681 - 8,257,881 (-)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef18,246,781 - 8,279,898 (-)NCBIHuRef
CHM1_119,086,735 - 9,120,070 (-)NCBICHM1_1
T2T-CHM13v2.018,568,756 - 8,627,452 (-)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
(-)-demecolcine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3',5'-cyclic AMP  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acetamide  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP,ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bucladesine  (EXP)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cycloheximide  (ISO)
cyclosporin A  (ISO)
D-glucose  (EXP,ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diethyl maleate  (ISO)
dimethylarsinic acid  (ISO)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
formaldehyde  (EXP)
fructose  (EXP,ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
GW 4064  (ISO)
hydroquinone  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (EXP)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
ketamine  (ISO)
lead diacetate  (ISO)
levonorgestrel  (EXP)
LY294002  (ISO)
metformin  (ISO)
methamphetamine  (EXP)
methylarsonic acid  (ISO)
mifepristone  (ISO)
mirtazapine  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
Nutlin-3  (EXP)
ochratoxin A  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pioglitazone  (EXP,ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sucrose  (ISO)
sulforaphane  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
triadimefon  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
wortmannin  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1550217   PMID:1634504   PMID:1695905   PMID:8037665   PMID:8333543   PMID:9691177   PMID:11247674   PMID:11840567   PMID:12477932   PMID:12554125   PMID:12820898   PMID:14757434  
PMID:15489334   PMID:16803853   PMID:17251278   PMID:17577579   PMID:18424253   PMID:18439419   PMID:19056867   PMID:19091748   PMID:19913121   PMID:20043883   PMID:20379614   PMID:20628086  
PMID:20965718   PMID:21165569   PMID:21873635   PMID:21938742   PMID:21988832   PMID:23084044   PMID:23341889   PMID:23376485   PMID:23533145   PMID:23910014   PMID:24623722   PMID:25326153  
PMID:26194112   PMID:26319403   PMID:28083649   PMID:28514442   PMID:28616912   PMID:29259131   PMID:29548810   PMID:29660339   PMID:29913554   PMID:30272826   PMID:31102011   PMID:31243309  
PMID:31918632   PMID:32051337   PMID:32296183   PMID:32649737   PMID:33961781   PMID:34188196   PMID:34215797   PMID:34604392   PMID:35257833   PMID:35285861   PMID:35387598   PMID:35605301  
PMID:36746764   PMID:37507736   PMID:37674366  


Genomics

Comparative Map Data
SLC2A5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819,035,106 - 9,094,195 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19,035,106 - 9,088,478 (-)EnsemblGRCh38hg38GRCh38
GRCh3719,095,165 - 9,132,318 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,019,594 - 9,052,257 (-)NCBINCBI36Build 36hg18NCBI36
Build 3419,031,272 - 9,063,936NCBI
Celera18,205,681 - 8,257,881 (-)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef18,246,781 - 8,279,898 (-)NCBIHuRef
CHM1_119,086,735 - 9,120,070 (-)NCBICHM1_1
T2T-CHM13v2.018,568,756 - 8,627,452 (-)NCBIT2T-CHM13v2.0
Slc2a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394150,203,801 - 150,228,625 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4150,203,740 - 150,228,626 (+)EnsemblGRCm39 Ensembl
GRCm384150,119,344 - 150,144,168 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4150,119,283 - 150,144,169 (+)EnsemblGRCm38mm10GRCm38
MGSCv374149,493,453 - 149,518,277 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364148,963,144 - 148,987,968 (+)NCBIMGSCv36mm8
Celera4152,395,331 - 152,418,947 (+)NCBICelera
Cytogenetic Map4E2NCBI
cM Map480.97NCBI
Slc2a5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85165,857,412 - 165,892,928 (+)NCBIGRCr8
mRatBN7.25160,583,055 - 160,609,994 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5160,583,234 - 160,611,106 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5163,299,711 - 163,326,461 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05165,121,924 - 165,148,813 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05165,078,270 - 165,105,019 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05167,142,182 - 167,174,203 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5167,141,875 - 167,174,310 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05170,782,871 - 170,808,467 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45167,240,442 - 167,285,761 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15167,250,629 - 167,295,948 (+)NCBI
Celera5158,844,838 - 158,869,525 (+)NCBICelera
Cytogenetic Map5q36NCBI
Slc2a5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554864,194,833 - 4,211,377 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554864,194,568 - 4,208,568 (+)NCBIChiLan1.0ChiLan1.0
SLC2A5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21219,145,117 - 219,196,791 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11217,789,862 - 217,841,544 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v017,792,361 - 7,840,634 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.119,028,790 - 9,078,509 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl19,028,790 - 9,078,509 (-)Ensemblpanpan1.1panPan2
LOC489640
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1562,417,234 - 62,444,903 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl562,417,591 - 62,442,922 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha562,434,685 - 62,454,581 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0562,644,215 - 62,664,060 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl562,644,215 - 62,664,372 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1562,642,371 - 62,662,203 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0562,506,640 - 62,526,482 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0562,910,582 - 62,930,423 (-)NCBIUU_Cfam_GSD_1.0
Slc2a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505832,741,273 - 32,767,573 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366233,226,515 - 3,249,914 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366233,226,533 - 3,249,909 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC2A5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl669,507,830 - 69,535,371 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1669,507,829 - 69,535,794 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC2A5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120122,669,220 - 122,714,708 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20122,683,373 - 122,716,540 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605426,700,362 - 26,733,757 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc2a5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248183,135,422 - 3,155,698 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248183,132,345 - 3,156,184 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC2A5
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727] Chr1:5274008..9329925 [GRCh38]
Chr1:5334068..9389984 [GRCh37]
Chr1:5233928..9312571 [NCBI36]
Chr1:1p36.32-36.22		 pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13		 pathogenic
NM_003039.2(SLC2A5):c.1338C>T (p.Ala446=) single nucleotide variant Malignant melanoma [RCV000064945] Chr1:9037754 [GRCh38]
Chr1:9097813 [GRCh37]
Chr1:9020400 [NCBI36]
Chr1:1p36.23		 not provided
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22		 pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 copy number gain See cases [RCV000137134] Chr1:8804244..10102950 [GRCh38]
Chr1:8864303..10163008 [GRCh37]
Chr1:8786890..10085595 [NCBI36]
Chr1:1p36.23-36.22		 uncertain significance
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3 copy number gain See cases [RCV000143200] Chr1:8819278..9634691 [GRCh38]
Chr1:8879337..9694749 [GRCh37]
Chr1:8801924..9617336 [NCBI36]
Chr1:1p36.23-36.22		 uncertain significance
NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp) single nucleotide variant Long QT syndrome [RCV000190149] Chr1:9039877 [GRCh38]
Chr1:9099936 [GRCh37]
Chr1:1p36.23		 association
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21		 likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:8855705-9389530)x1 copy number loss See cases [RCV000510311] Chr1:8855705..9389530 [GRCh37]
Chr1:1p36.23-36.22		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13		 likely pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1 copy number loss not provided [RCV000684545] Chr1:7331314..9427796 [GRCh37]
Chr1:1p36.23-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1 copy number loss not provided [RCV000684546] Chr1:7391956..9775929 [GRCh37]
Chr1:1p36.23-36.22		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.23(chr1:9087899-9111626)x1 copy number loss not provided [RCV000736388] Chr1:9087899..9111626 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.328A>G (p.Ile110Val) single nucleotide variant not provided [RCV000950599] Chr1:9047700 [GRCh38]
Chr1:9107759 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.96T>G (p.Tyr32Ter) single nucleotide variant not provided [RCV000897130] Chr1:9058188 [GRCh38]
Chr1:9118247 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:8698108-9266627)x3 copy number gain not provided [RCV000846820] Chr1:8698108..9266627 [GRCh37]
Chr1:1p36.23-36.22		 uncertain significance
NM_003039.3(SLC2A5):c.-25G>A single nucleotide variant not provided [RCV001598339] Chr1:9069561 [GRCh38]
Chr1:9129620 [GRCh37]
Chr1:1p36.23		 benign
NM_001328619.2(SLC2A5):c.-58-292T>C single nucleotide variant not provided [RCV001635998] Chr1:9069886 [GRCh38]
Chr1:9129945 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.1174+159C>T single nucleotide variant not provided [RCV001691261] Chr1:9038272 [GRCh38]
Chr1:9098331 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.1175-147G>A single nucleotide variant not provided [RCV001672407] Chr1:9038171 [GRCh38]
Chr1:9098230 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.572-231C>T single nucleotide variant not provided [RCV001616009] Chr1:9040420 [GRCh38]
Chr1:9100479 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.293+155del deletion not provided [RCV001669425] Chr1:9057293 [GRCh38]
Chr1:9117352 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.34-287G>T single nucleotide variant not provided [RCV001654909] Chr1:9058537 [GRCh38]
Chr1:9118596 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.1098+145C>T single nucleotide variant not provided [RCV001673304] Chr1:9038683 [GRCh38]
Chr1:9098742 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.886-6T>C single nucleotide variant not provided [RCV001638492] Chr1:9039668 [GRCh38]
Chr1:9099727 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.133-81A>G single nucleotide variant not provided [RCV001647900] Chr1:9057689 [GRCh38]
Chr1:9117748 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.293+136T>C single nucleotide variant not provided [RCV001666632] Chr1:9057312 [GRCh38]
Chr1:9117371 [GRCh37]
Chr1:1p36.23		 benign
GRCh37/hg19 1p36.23(chr1:8869809-9115610)x3 copy number gain not provided [RCV001259573] Chr1:8869809..9115610 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.294-56C>A single nucleotide variant not provided [RCV001614592] Chr1:9047790 [GRCh38]
Chr1:9107849 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.1175-189G>A single nucleotide variant not provided [RCV001654205] Chr1:9038213 [GRCh38]
Chr1:9098272 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.2(SLC2A5):c.-272C>T single nucleotide variant not provided [RCV001674433] Chr1:9069808 [GRCh38]
Chr1:9129867 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.132+263G>A single nucleotide variant not provided [RCV001715423] Chr1:9057889 [GRCh38]
Chr1:9117948 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.1174+42del deletion not provided [RCV001654852] Chr1:9038389 [GRCh38]
Chr1:9098448 [GRCh37]
Chr1:1p36.23		 benign
NM_003039.3(SLC2A5):c.997-250del deletion not provided [RCV002244586] Chr1:9039179 [GRCh38]
Chr1:9099238 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NC_000001.10:g.(?_8616514)_(12476900_?)dup duplication Immunodeficiency 14 [RCV001920571] Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22		 uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1 copy number loss not provided [RCV002472637] Chr1:8473813..9852687 [GRCh37]
Chr1:1p36.23-36.22		 likely pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NM_003039.3(SLC2A5):c.1451T>C (p.Val484Ala) single nucleotide variant not specified [RCV004145431] Chr1:9037641 [GRCh38]
Chr1:9097700 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.433G>A (p.Val145Met) single nucleotide variant not specified [RCV004235769] Chr1:9041923 [GRCh38]
Chr1:9101982 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.1312G>A (p.Gly438Ser) single nucleotide variant not specified [RCV004138055] Chr1:9037780 [GRCh38]
Chr1:9097839 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.668A>C (p.Gln223Pro) single nucleotide variant not specified [RCV004115364] Chr1:9040093 [GRCh38]
Chr1:9100152 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.929C>G (p.Pro310Arg) single nucleotide variant not specified [RCV004070044] Chr1:9039619 [GRCh38]
Chr1:9099678 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.401T>C (p.Leu134Ser) single nucleotide variant not specified [RCV004206941] Chr1:9047627 [GRCh38]
Chr1:9107686 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.791C>G (p.Ser264Cys) single nucleotide variant not specified [RCV004243983] Chr1:9039894 [GRCh38]
Chr1:9099953 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.853A>C (p.Met285Leu) single nucleotide variant not specified [RCV004069858] Chr1:9039832 [GRCh38]
Chr1:9099891 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.490G>C (p.Val164Leu) single nucleotide variant not specified [RCV004074809] Chr1:9041866 [GRCh38]
Chr1:9101925 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.147T>G (p.Phe49Leu) single nucleotide variant not specified [RCV004090530] Chr1:9057594 [GRCh38]
Chr1:9117653 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.1057C>T (p.Leu353Phe) single nucleotide variant not specified [RCV004176303] Chr1:9038869 [GRCh38]
Chr1:9098928 [GRCh37]
Chr1:1p36.23		 likely benign
NM_003039.3(SLC2A5):c.53C>T (p.Ala18Val) single nucleotide variant not specified [RCV004073738] Chr1:9058231 [GRCh38]
Chr1:9118290 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.1247G>A (p.Gly416Asp) single nucleotide variant not specified [RCV004173115] Chr1:9037952 [GRCh38]
Chr1:9098011 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.778G>C (p.Ala260Pro) single nucleotide variant not specified [RCV004230607] Chr1:9039907 [GRCh38]
Chr1:9099966 [GRCh37]
Chr1:1p36.23		 uncertain significance
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_003039.3(SLC2A5):c.59C>T (p.Ala20Val) single nucleotide variant not specified [RCV004269660] Chr1:9058225 [GRCh38]
Chr1:9118284 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.582C>G (p.Ile194Met) single nucleotide variant not specified [RCV004259708] Chr1:9040179 [GRCh38]
Chr1:9100238 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.112G>A (p.Ala38Thr) single nucleotide variant not specified [RCV004270071] Chr1:9058172 [GRCh38]
Chr1:9118231 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.712C>T (p.Arg238Cys) single nucleotide variant not specified [RCV004255925] Chr1:9039973 [GRCh38]
Chr1:9100032 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.131T>G (p.Leu44Arg) single nucleotide variant not specified [RCV004357396] Chr1:9058153 [GRCh38]
Chr1:9118212 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.1393G>A (p.Ala465Thr) single nucleotide variant not specified [RCV004359362] Chr1:9037699 [GRCh38]
Chr1:9097758 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.193T>A (p.Phe65Ile) single nucleotide variant not specified [RCV004342510] Chr1:9057548 [GRCh38]
Chr1:9117607 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.919G>A (p.Ala307Thr) single nucleotide variant not specified [RCV004352104] Chr1:9039629 [GRCh38]
Chr1:9099688 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_003039.3(SLC2A5):c.832C>T (p.Leu278=) single nucleotide variant not provided [RCV003422528] Chr1:9039853 [GRCh38]
Chr1:9099912 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_003039.3(SLC2A5):c.648C>A (p.Ser216Arg) single nucleotide variant not provided [RCV003491498] Chr1:9040113 [GRCh38]
Chr1:9100172 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 copy number loss not specified [RCV003987128] Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21		 pathogenic
NM_003039.3(SLC2A5):c.1466A>G (p.Glu489Gly) single nucleotide variant not specified [RCV004459054] Chr1:9037626 [GRCh38]
Chr1:9097685 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.532C>G (p.Gln178Glu) single nucleotide variant not specified [RCV004459057] Chr1:9041824 [GRCh38]
Chr1:9101883 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.950T>G (p.Val317Gly) single nucleotide variant not specified [RCV004459061] Chr1:9039598 [GRCh38]
Chr1:9099657 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.1340T>G (p.Val447Gly) single nucleotide variant not specified [RCV004459053] Chr1:9037752 [GRCh38]
Chr1:9097811 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.203C>T (p.Thr68Met) single nucleotide variant not specified [RCV004459055] Chr1:9057538 [GRCh38]
Chr1:9117597 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.476G>A (p.Arg159Gln) single nucleotide variant not specified [RCV004459056] Chr1:9041880 [GRCh38]
Chr1:9101939 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.748A>G (p.Ile250Val) single nucleotide variant not specified [RCV004459060] Chr1:9039937 [GRCh38]
Chr1:9099996 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.1276G>A (p.Val426Met) single nucleotide variant not specified [RCV004459051] Chr1:9037923 [GRCh38]
Chr1:9097982 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_003039.3(SLC2A5):c.1003G>A (p.Val335Met) single nucleotide variant not specified [RCV004459050] Chr1:9038923 [GRCh38]
Chr1:9098982 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.542G>A (p.Gly181Asp) single nucleotide variant not specified [RCV004459058] Chr1:9041814 [GRCh38]
Chr1:9101873 [GRCh37]
Chr1:1p36.23		 uncertain significance
NC_000001.10:g.(?_5923325)_(12071622_?)del deletion not provided [RCV004579132] Chr1:5923325..12071622 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NM_003039.3(SLC2A5):c.479G>A (p.Gly160Glu) single nucleotide variant not specified [RCV004672507] Chr1:9041877 [GRCh38]
Chr1:9101936 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.514G>A (p.Val172Ile) single nucleotide variant not specified [RCV004672505] Chr1:9041842 [GRCh38]
Chr1:9101901 [GRCh37]
Chr1:1p36.23		 likely benign
NM_003039.3(SLC2A5):c.1414A>C (p.Asn472His) single nucleotide variant not specified [RCV004672506] Chr1:9037678 [GRCh38]
Chr1:9097737 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_003039.3(SLC2A5):c.824G>A (p.Arg275His) single nucleotide variant not specified [RCV004672508] Chr1:9039861 [GRCh38]
Chr1:9099920 [GRCh37]
Chr1:1p36.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4225
Count of miRNA genes:1183
Interacting mature miRNAs:1488
Transcripts:ENST00000377414, ENST00000377424, ENST00000464985, ENST00000473209, ENST00000474145, ENST00000479813, ENST00000484798, ENST00000486632, ENST00000487492, ENST00000487835, ENST00000535586, ENST00000536305
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407047536GWAS696512_Hresponse to antidepressant QTL GWAS696512 (human)0.000009response to antidepressant190912669091267Human
407215137GWAS864113_HMyopia QTL GWAS864113 (human)0.000001Myopia190592599059260Human
407315523GWAS964499_HQT interval QTL GWAS964499 (human)5e-08QT intervalQT interval (CMO:0000235)190802689080269Human
406991753GWAS640729_Hresponse to tenofovir QTL GWAS640729 (human)0.000003response to tenofovir190935709093571Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
407058767GWAS707743_HCOVID-19 QTL GWAS707743 (human)2e-10COVID-19190671579067158Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human

Markers in Region
RH64477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,100,635 - 9,100,738UniSTSGRCh37
Build 3619,023,222 - 9,023,325RGDNCBI36
Celera18,209,311 - 8,209,414RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,250,410 - 8,250,513UniSTS
GeneMap99-GB4 RH Map131.68UniSTS
RH80220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,097,589 - 9,097,830UniSTSGRCh37
Build 3619,020,176 - 9,020,417RGDNCBI36
Celera18,206,265 - 8,206,506RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,247,365 - 8,247,606UniSTS
GeneMap99-GB4 RH Map132.83UniSTS
G54082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,097,202 - 9,097,343UniSTSGRCh37
Build 3619,019,789 - 9,019,930RGDNCBI36
Celera18,205,878 - 8,206,019RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,246,978 - 8,247,119UniSTS
D1S1254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,108,640 - 9,108,824UniSTSGRCh37
Build 3619,031,227 - 9,031,411RGDNCBI36
Celera18,217,313 - 8,217,497RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,258,298 - 8,258,482UniSTS
SHGC-74178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,129,469 - 9,129,596UniSTSGRCh37
Build 3619,052,056 - 9,052,183RGDNCBI36
Celera18,238,830 - 8,238,957RGD
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1p36.2UniSTS
HuRef18,279,480 - 8,279,607UniSTS
TNG Radiation Hybrid Map14286.0UniSTS
GeneMap99-GB4 RH Map132.73UniSTS
RH69141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,097,091 - 9,097,224UniSTSGRCh37
Build 3619,019,678 - 9,019,811RGDNCBI36
Celera18,205,767 - 8,205,900RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,246,867 - 8,247,000UniSTS
GeneMap99-GB4 RH Map133.68UniSTS
D1S274E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,100,645 - 9,100,732UniSTSGRCh37
GRCh3719,100,650 - 9,100,863UniSTSGRCh37
Build 3619,023,237 - 9,023,450RGDNCBI36
Celera18,209,326 - 8,209,539RGD
Celera18,209,321 - 8,209,408UniSTS
Cytogenetic Map1p36.2UniSTS
HuRef18,250,420 - 8,250,507UniSTS
HuRef18,250,425 - 8,250,638UniSTS
TNG Radiation Hybrid Map14318.0UniSTS
Stanford-G3 RH Map1436.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map130.6UniSTS
GeneMap99-G3 RH Map1436.0UniSTS
SHGC-74165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,097,144 - 9,097,326UniSTSGRCh37
Build 3619,019,731 - 9,019,913RGDNCBI36
Celera18,205,820 - 8,206,002RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,246,920 - 8,247,102UniSTS
TNG Radiation Hybrid Map14312.0UniSTS
GeneMap99-GB4 RH Map131.26UniSTS
NCBI RH Map143.2UniSTS
RH70560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,097,329 - 9,097,530UniSTSGRCh37
Build 3619,019,916 - 9,020,117RGDNCBI36
Celera18,206,005 - 8,206,206RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,247,105 - 8,247,306UniSTS
GeneMap99-GB4 RH Map132.73UniSTS
D1S274E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.2UniSTS
Whitehead-YAC Contig Map1 UniSTS


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 2423 2788 2244 4927 1706 2318 4 612 1937 454 2252 7246 6443 50 3709 836 1725 1596 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001328619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001328620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001328621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF451839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF479408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA309754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC379829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000377414   ⟹   ENSP00000366631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,040,080 - 9,069,604 (-)Ensembl
Ensembl Acc Id: ENST00000377424   ⟹   ENSP00000366641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,035,106 - 9,069,635 (-)Ensembl
Ensembl Acc Id: ENST00000464985   ⟹   ENSP00000467840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,047,611 - 9,088,443 (-)Ensembl
Ensembl Acc Id: ENST00000473209   ⟹   ENSP00000465285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,057,498 - 9,069,851 (-)Ensembl
Ensembl Acc Id: ENST00000474145   ⟹   ENSP00000464880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,041,785 - 9,072,265 (-)Ensembl
Ensembl Acc Id: ENST00000479813   ⟹   ENSP00000468590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,041,785 - 9,073,122 (-)Ensembl
Ensembl Acc Id: ENST00000484798   ⟹   ENSP00000467039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,041,785 - 9,071,727 (-)Ensembl
Ensembl Acc Id: ENST00000486632   ⟹   ENSP00000465507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,041,785 - 9,088,478 (-)Ensembl
Ensembl Acc Id: ENST00000487492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,038,431 - 9,039,895 (-)Ensembl
Ensembl Acc Id: ENST00000487835   ⟹   ENSP00000465382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,041,858 - 9,088,457 (-)Ensembl
RefSeq Acc Id: NM_001135585   ⟹   NP_001129057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,040,080 - 9,069,635 (-)NCBI
GRCh3719,097,005 - 9,131,763 (-)NCBI
HuRef18,246,781 - 8,279,898 (-)NCBI
CHM1_119,091,157 - 9,120,070 (-)NCBI
T2T-CHM13v2.018,573,731 - 8,603,524 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001328619   ⟹   NP_001315548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,072,259 (-)NCBI
T2T-CHM13v2.018,568,756 - 8,606,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001328620   ⟹   NP_001315549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,069,635 (-)NCBI
T2T-CHM13v2.018,568,756 - 8,603,524 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001328621   ⟹   NP_001315550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,069,635 (-)NCBI
T2T-CHM13v2.018,568,756 - 8,603,524 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003039   ⟹   NP_003030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,069,635 (-)NCBI
GRCh3719,097,005 - 9,131,763 (-)NCBI
Build 3619,019,594 - 9,052,257 (-)NCBI Archive
HuRef18,246,781 - 8,279,898 (-)NCBI
CHM1_119,086,735 - 9,120,070 (-)NCBI
T2T-CHM13v2.018,568,756 - 8,603,524 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428588   ⟹   XP_047284544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,088,451 (-)NCBI
RefSeq Acc Id: XM_047428591   ⟹   XP_047284547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,071,728 (-)NCBI
RefSeq Acc Id: XM_047428594   ⟹   XP_047284550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,073,156 (-)NCBI
RefSeq Acc Id: XM_047428598   ⟹   XP_047284554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,073,140 (-)NCBI
RefSeq Acc Id: XM_047428602   ⟹   XP_047284558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,088,451 (-)NCBI
RefSeq Acc Id: XM_047428606   ⟹   XP_047284562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,093,407 (-)NCBI
RefSeq Acc Id: XM_047428612   ⟹   XP_047284568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,093,407 (-)NCBI
RefSeq Acc Id: XM_047428614   ⟹   XP_047284570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,094,195 (-)NCBI
RefSeq Acc Id: XM_047428615   ⟹   XP_047284571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,094,195 (-)NCBI
RefSeq Acc Id: XM_047428623   ⟹   XP_047284579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,088,451 (-)NCBI
RefSeq Acc Id: XM_047428625   ⟹   XP_047284581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,035,106 - 9,049,121 (-)NCBI
RefSeq Acc Id: XM_054338399   ⟹   XP_054194374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,622,512 (-)NCBI
RefSeq Acc Id: XM_054338400   ⟹   XP_054194375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,605,625 (-)NCBI
RefSeq Acc Id: XM_054338401   ⟹   XP_054194376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,607,046 (-)NCBI
RefSeq Acc Id: XM_054338402   ⟹   XP_054194377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,607,030 (-)NCBI
RefSeq Acc Id: XM_054338403   ⟹   XP_054194378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,622,512 (-)NCBI
RefSeq Acc Id: XM_054338404   ⟹   XP_054194379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,627,452 (-)NCBI
RefSeq Acc Id: XM_054338405   ⟹   XP_054194380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,627,452 (-)NCBI
RefSeq Acc Id: XM_054338406   ⟹   XP_054194381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,622,512 (-)NCBI
RefSeq Acc Id: XM_054338407   ⟹   XP_054194382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,568,756 - 8,582,766 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001129057 (Get FASTA)   NCBI Sequence Viewer  
  NP_001315548 (Get FASTA)   NCBI Sequence Viewer  
  NP_001315549 (Get FASTA)   NCBI Sequence Viewer  
  NP_001315550 (Get FASTA)   NCBI Sequence Viewer  
  NP_003030 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284544 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284547 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284550 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284554 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284558 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284562 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284568 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284570 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284571 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284579 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284581 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194374 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194375 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194376 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194377 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194378 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194379 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194380 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194381 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194382 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52570 (Get FASTA)   NCBI Sequence Viewer  
  AAB60641 (Get FASTA)   NCBI Sequence Viewer  
  AAH01692 (Get FASTA)   NCBI Sequence Viewer  
  AAH01820 (Get FASTA)   NCBI Sequence Viewer  
  AAH35878 (Get FASTA)   NCBI Sequence Viewer  
  AAL87107 (Get FASTA)   NCBI Sequence Viewer  
  AEE60992 (Get FASTA)   NCBI Sequence Viewer  
  BAF82538 (Get FASTA)   NCBI Sequence Viewer  
  BAF83087 (Get FASTA)   NCBI Sequence Viewer  
  BAG57630 (Get FASTA)   NCBI Sequence Viewer  
  BAG58606 (Get FASTA)   NCBI Sequence Viewer  
  BAG61894 (Get FASTA)   NCBI Sequence Viewer  
  BAG62193 (Get FASTA)   NCBI Sequence Viewer  
  BAG63439 (Get FASTA)   NCBI Sequence Viewer  
  BAG63447 (Get FASTA)   NCBI Sequence Viewer  
  BAG63511 (Get FASTA)   NCBI Sequence Viewer  
  EAW71610 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366631
  ENSP00000366631.3
  ENSP00000366641
  ENSP00000366641.4
  ENSP00000464880.1
  ENSP00000465285.1
  ENSP00000465382.1
  ENSP00000465507.1
  ENSP00000467039.1
  ENSP00000467840.1
  ENSP00000468590.1
GenBank Protein P22732 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003030   ⟸   NM_003039
- Peptide Label: isoform 1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   B4DXN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129057   ⟸   NM_001135585
- Peptide Label: isoform 2
- UniProtKB: A0A140VJK5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001315548   ⟸   NM_001328619
- Peptide Label: isoform 1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   B4DXN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001315550   ⟸   NM_001328621
- Peptide Label: isoform 4
- UniProtKB: B4DU31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001315549   ⟸   NM_001328620
- Peptide Label: isoform 3
- UniProtKB: B4DG19 (UniProtKB/TrEMBL),   B4DXM7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000467840   ⟸   ENST00000464985
Ensembl Acc Id: ENSP00000468590   ⟸   ENST00000479813
Ensembl Acc Id: ENSP00000366631   ⟸   ENST00000377414
Ensembl Acc Id: ENSP00000366641   ⟸   ENST00000377424
Ensembl Acc Id: ENSP00000467039   ⟸   ENST00000484798
Ensembl Acc Id: ENSP00000465507   ⟸   ENST00000486632
Ensembl Acc Id: ENSP00000465285   ⟸   ENST00000473209
Ensembl Acc Id: ENSP00000465382   ⟸   ENST00000487835
Ensembl Acc Id: ENSP00000464880   ⟸   ENST00000474145
RefSeq Acc Id: XP_047284571   ⟸   XM_047428615
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284570   ⟸   XM_047428614
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284562   ⟸   XM_047428606
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284568   ⟸   XM_047428612
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284558   ⟸   XM_047428602
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284579   ⟸   XM_047428623
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284544   ⟸   XM_047428588
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284550   ⟸   XM_047428594
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284554   ⟸   XM_047428598
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284547   ⟸   XM_047428591
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284581   ⟸   XM_047428625
- Peptide Label: isoform X3
- UniProtKB: B4DT82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194379   ⟸   XM_054338404
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194380   ⟸   XM_054338405
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194378   ⟸   XM_054338403
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194381   ⟸   XM_054338406
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054194374   ⟸   XM_054338399
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194376   ⟸   XM_054338401
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194377   ⟸   XM_054338402
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194375   ⟸   XM_054338400
- Peptide Label: isoform X1
- UniProtKB: Q5T977 (UniProtKB/Swiss-Prot),   Q14770 (UniProtKB/Swiss-Prot),   P22732 (UniProtKB/Swiss-Prot),   Q8IVB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194382   ⟸   XM_054338407
- Peptide Label: isoform X3
- UniProtKB: B4DT82 (UniProtKB/TrEMBL)
Protein Domains
Major facilitator superfamily (MFS) profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22732-F1-model_v2 AlphaFold P22732 1-501 view protein structure

Promoters
RGD ID:6786872
Promoter ID:HG_KWN:543
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000004934
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,022,156 - 9,022,907 (-)MPROMDB
RGD ID:6786873
Promoter ID:HG_KWN:544
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377414,   OTTHUMT00000004932,   OTTHUMT00000004935,   OTTHUMT00000004936
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,051,954 - 9,052,454 (-)MPROMDB
RGD ID:6853988
Promoter ID:EPDNEW_H159
Type:initiation region
Name:SLC2A5_1
Description:solute carrier family 2 member 5
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
GRCh3819,069,635 - 9,069,695EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11010 AgrOrtholog
COSMIC SLC2A5 COSMIC
Ensembl Genes ENSG00000142583 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377414 ENTREZGENE
  ENST00000377414.7 UniProtKB/Swiss-Prot
  ENST00000377424 ENTREZGENE
  ENST00000377424.9 UniProtKB/Swiss-Prot
  ENST00000464985.5 UniProtKB/TrEMBL
  ENST00000473209.1 UniProtKB/TrEMBL
  ENST00000474145.5 UniProtKB/TrEMBL
  ENST00000479813.5 UniProtKB/TrEMBL
  ENST00000484798.5 UniProtKB/TrEMBL
  ENST00000486632.5 UniProtKB/TrEMBL
  ENST00000487835.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142583 GTEx
HGNC ID HGNC:11010 ENTREZGENE
Human Proteome Map SLC2A5 Human Proteome Map
InterPro Fru_transpt_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUT 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:6518 UniProtKB/Swiss-Prot
NCBI Gene 6518 ENTREZGENE
OMIM 138230 OMIM
PANTHER PTHR23503 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 2, FACILITATED GLUCOSE TRANSPORTER MEMBER 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sugar_tr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35880 PharmGKB
PRINTS GLUCTRSPORT5 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, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJK5 ENTREZGENE, UniProtKB/TrEMBL
  B4DG19 ENTREZGENE, UniProtKB/TrEMBL
  B4DT82 ENTREZGENE, UniProtKB/TrEMBL
  B4DU31 ENTREZGENE, UniProtKB/TrEMBL
  B4DXM7 ENTREZGENE, UniProtKB/TrEMBL
  B4DXN5 ENTREZGENE, UniProtKB/TrEMBL
  GTR5_HUMAN UniProtKB/Swiss-Prot
  K7EIT1_HUMAN UniProtKB/TrEMBL
  K7EJR1_HUMAN UniProtKB/TrEMBL
  K7EJZ0_HUMAN UniProtKB/TrEMBL
  K7EQI3_HUMAN UniProtKB/TrEMBL
  L8E9T0_HUMAN UniProtKB/TrEMBL
  P22732 ENTREZGENE
  Q14770 ENTREZGENE
  Q5T977 ENTREZGENE
  Q8IVB3 ENTREZGENE
UniProt Secondary Q14770 UniProtKB/Swiss-Prot
  Q5T977 UniProtKB/Swiss-Prot
  Q8IVB3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC2A5  solute carrier family 2 member 5    solute carrier family 2 (facilitated glucose/fructose transporter), member 5  Symbol and/or name change 5135510 APPROVED