SLC2A7 (solute carrier family 2 member 7) - Rat Genome Database

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Gene: SLC2A7 (solute carrier family 2 member 7) Homo sapiens
Analyze
Symbol: SLC2A7
Name: solute carrier family 2 member 7
RGD ID: 1344587
HGNC Page HGNC:13445
Description: Enables D-glucose transmembrane transporter activity and fructose transmembrane transporter activity. Involved in fructose transmembrane transport and glucose transmembrane transport. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: glucose transporter type 7; GLUT-7; GLUT7; hGLUT7; intestinal facilitative glucose transporter 7; solute carrier family 2 (facilitated glucose transporter), member 7; solute carrier family 2, facilitated glucose transporter member 7
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Pig
Green Monkey
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
GRCh3818,992,534 - 9,026,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19,002,973 - 9,026,423 (-)EnsemblGRCh38hg38GRCh38
GRCh3719,063,032 - 9,086,482 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3618,985,946 - 9,008,991 (-)NCBINCBI36Build 36hg18NCBI36
Build 3418,997,624 - 9,020,670NCBI
Celera18,172,056 - 8,195,080 (-)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef18,213,158 - 8,236,183 (-)NCBIHuRef
CHM1_119,053,282 - 9,076,303 (-)NCBICHM1_1
T2T-CHM13v2.018,526,240 - 8,560,063 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IEA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11780753   PMID:15033637   PMID:16186102   PMID:18460594   PMID:18477702   PMID:21873635   PMID:28083649   PMID:29548810   PMID:33961781   PMID:35906200  


Genomics

Comparative Map Data
SLC2A7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3818,992,534 - 9,026,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19,002,973 - 9,026,423 (-)EnsemblGRCh38hg38GRCh38
GRCh3719,063,032 - 9,086,482 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3618,985,946 - 9,008,991 (-)NCBINCBI36Build 36hg18NCBI36
Build 3418,997,624 - 9,020,670NCBI
Celera18,172,056 - 8,195,080 (-)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef18,213,158 - 8,236,183 (-)NCBIHuRef
CHM1_119,053,282 - 9,076,303 (-)NCBICHM1_1
T2T-CHM13v2.018,526,240 - 8,560,063 (-)NCBIT2T-CHM13v2.0
Slc2a7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394150,233,293 - 150,253,499 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4150,233,429 - 150,252,939 (+)EnsemblGRCm39 Ensembl
GRCm384150,148,834 - 150,169,042 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4150,148,972 - 150,168,482 (+)EnsemblGRCm38mm10GRCm38
MGSCv374149,523,081 - 149,542,591 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364148,992,772 - 149,012,282 (+)NCBIMGSCv36mm8
Celera4152,423,736 - 152,443,348 (+)NCBICelera
Cytogenetic Map4E2NCBI
cM Map481.04NCBI
Slc2a7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85165,907,721 - 165,927,277 (+)NCBIGRCr8
mRatBN7.25160,624,793 - 160,643,994 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5160,624,793 - 160,643,514 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5163,341,254 - 163,360,451 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05165,163,127 - 165,182,312 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05165,119,812 - 165,139,016 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05167,195,981 - 167,211,613 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5167,195,981 - 167,211,391 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05170,826,294 - 170,839,549 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45167,287,943 - 167,318,833 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5158,885,103 - 158,901,022 (+)NCBICelera
Cytogenetic Map5q36NCBI
SLC2A7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21219,203,957 - 219,228,946 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11217,848,716 - 217,873,683 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v017,760,357 - 7,784,105 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.118,994,787 - 9,017,922 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl18,994,787 - 9,017,922 (-)Ensemblpanpan1.1panPan2
Slc2a7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505832,717,310 - 32,735,227 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366233,205,532 - 3,221,030 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366233,205,237 - 3,221,639 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC2A7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl669,484,227 - 69,503,732 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1669,483,736 - 69,503,758 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC2A7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120122,724,595 - 122,749,456 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20122,725,001 - 122,748,899 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605426,742,129 - 26,771,049 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SLC2A7
42 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
NM_207420.2(SLC2A7):c.531C>T (p.Ile177=) single nucleotide variant Malignant melanoma [RCV000064943] Chr1:9018281 [GRCh38]
Chr1:9078340 [GRCh37]
Chr1:9000927 [NCBI36]
Chr1:1p36.23
not provided
NM_207420.2(SLC2A7):c.472G>A (p.Glu158Lys) single nucleotide variant Malignant melanoma [RCV000064944] Chr1:9018340 [GRCh38]
Chr1:9078399 [GRCh37]
Chr1:9000986 [NCBI36]
Chr1:1p36.23
not provided
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_001215.3(CA6):c.777C>T (p.Ile259=) single nucleotide variant Malignant melanoma [RCV000064939] Chr1:8970914 [GRCh38]
Chr1:9030973 [GRCh37]
Chr1:8953560 [NCBI36]
Chr1:1p36.23
not provided
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
NM_207420.3(SLC2A7):c.194C>A (p.Ala65Glu) single nucleotide variant not provided [RCV000961875] Chr1:9023035 [GRCh38]
Chr1:9083094 [GRCh37]
Chr1:1p36.23
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(chr1:8850514-9094343)x3 copy number gain not provided [RCV000848258] Chr1:8850514..9094343 [GRCh37]
Chr1:1p36.23
uncertain significance
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
GRCh37/hg19 1p36.23(chr1:8850514-9092079)x3 copy number gain not provided [RCV001005064] Chr1:8850514..9092079 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1042C>T (p.Arg348Trp) single nucleotide variant Inborn genetic diseases [RCV003251056] Chr1:9010217 [GRCh38]
Chr1:9070276 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.307G>A (p.Gly103Ser) single nucleotide variant Inborn genetic diseases [RCV003247661] Chr1:9022922 [GRCh38]
Chr1:9082981 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.774G>A (p.Ala258=) single nucleotide variant not provided [RCV000955664] Chr1:9014810 [GRCh38]
Chr1:9074869 [GRCh37]
Chr1:1p36.23
benign
NM_207420.3(SLC2A7):c.1007T>A (p.Ile336Asn) single nucleotide variant not provided [RCV000955663] Chr1:9013532 [GRCh38]
Chr1:9073591 [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
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
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
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
NM_207420.3(SLC2A7):c.1055T>A (p.Leu352Gln) single nucleotide variant Inborn genetic diseases [RCV003253154] Chr1:9010204 [GRCh38]
Chr1:9070263 [GRCh37]
Chr1:1p36.23
uncertain significance
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 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13
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
NM_207420.3(SLC2A7):c.299A>T (p.Asp100Val) single nucleotide variant Inborn genetic diseases [RCV002945750] Chr1:9022930 [GRCh38]
Chr1:9082989 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.526G>A (p.Val176Ile) single nucleotide variant Inborn genetic diseases [RCV002682981] Chr1:9018286 [GRCh38]
Chr1:9078345 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.450C>A (p.Ser150Arg) single nucleotide variant Inborn genetic diseases [RCV002945671] Chr1:9018362 [GRCh38]
Chr1:9078421 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.238A>C (p.Thr80Pro) single nucleotide variant Inborn genetic diseases [RCV002752658] Chr1:9022991 [GRCh38]
Chr1:9083050 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.241G>A (p.Val81Ile) single nucleotide variant Inborn genetic diseases [RCV002981748] Chr1:9022988 [GRCh38]
Chr1:9083047 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1172C>G (p.Ala391Gly) single nucleotide variant Inborn genetic diseases [RCV002888877] Chr1:9007330 [GRCh38]
Chr1:9067389 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.160T>G (p.Ser54Ala) single nucleotide variant Inborn genetic diseases [RCV002886763] Chr1:9023069 [GRCh38]
Chr1:9083128 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.938C>T (p.Ala313Val) single nucleotide variant Inborn genetic diseases [RCV002844624] Chr1:9013601 [GRCh38]
Chr1:9073660 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1039C>T (p.Arg347Trp) single nucleotide variant Inborn genetic diseases [RCV002848568] Chr1:9010220 [GRCh38]
Chr1:9070279 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1201C>G (p.Pro401Ala) single nucleotide variant Inborn genetic diseases [RCV002804223] Chr1:9004871 [GRCh38]
Chr1:9064930 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1205C>T (p.Ser402Leu) single nucleotide variant Inborn genetic diseases [RCV002919514] Chr1:9004867 [GRCh38]
Chr1:9064926 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1463A>G (p.Lys488Arg) single nucleotide variant Inborn genetic diseases [RCV002854423] Chr1:9003376 [GRCh38]
Chr1:9063435 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.653T>C (p.Phe218Ser) single nucleotide variant Inborn genetic diseases [RCV002764414] Chr1:9015179 [GRCh38]
Chr1:9075238 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1333G>C (p.Ala445Pro) single nucleotide variant Inborn genetic diseases [RCV002919682] Chr1:9003506 [GRCh38]
Chr1:9063565 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.985G>A (p.Val329Ile) single nucleotide variant Inborn genetic diseases [RCV003004170] Chr1:9013554 [GRCh38]
Chr1:9073613 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.208G>A (p.Gly70Arg) single nucleotide variant Inborn genetic diseases [RCV002984648] Chr1:9023021 [GRCh38]
Chr1:9083080 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1153T>A (p.Cys385Ser) single nucleotide variant Inborn genetic diseases [RCV002984734] Chr1:9007349 [GRCh38]
Chr1:9067408 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.355G>A (p.Ala119Thr) single nucleotide variant Inborn genetic diseases [RCV002940893] Chr1:9019290 [GRCh38]
Chr1:9079349 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.740C>T (p.Thr247Met) single nucleotide variant Inborn genetic diseases [RCV002673870] Chr1:9014844 [GRCh38]
Chr1:9074903 [GRCh37]
Chr1:1p36.23
likely benign
NM_207420.3(SLC2A7):c.788A>C (p.Glu263Ala) single nucleotide variant Inborn genetic diseases [RCV002935343] Chr1:9014796 [GRCh38]
Chr1:9074855 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1255A>G (p.Met419Val) single nucleotide variant Inborn genetic diseases [RCV002920072] Chr1:9004817 [GRCh38]
Chr1:9064876 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.116G>C (p.Gly39Ala) single nucleotide variant Inborn genetic diseases [RCV002935659] Chr1:9025010 [GRCh38]
Chr1:9085069 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1409A>G (p.Lys470Arg) single nucleotide variant Inborn genetic diseases [RCV003195873] Chr1:9003430 [GRCh38]
Chr1:9063489 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.689A>G (p.Lys230Arg) single nucleotide variant Inborn genetic diseases [RCV003212119] Chr1:9015143 [GRCh38]
Chr1:9075202 [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_207420.3(SLC2A7):c.1048C>T (p.Leu350Phe) single nucleotide variant Inborn genetic diseases [RCV003207658] Chr1:9010211 [GRCh38]
Chr1:9070270 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1278G>T (p.Trp426Cys) single nucleotide variant Inborn genetic diseases [RCV003219716] Chr1:9004794 [GRCh38]
Chr1:9064853 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.773C>T (p.Ala258Val) single nucleotide variant Inborn genetic diseases [RCV003310176] Chr1:9014811 [GRCh38]
Chr1:9074870 [GRCh37]
Chr1:1p36.23
likely benign
NM_207420.3(SLC2A7):c.193G>A (p.Ala65Thr) single nucleotide variant Inborn genetic diseases [RCV003351793] Chr1:9023036 [GRCh38]
Chr1:9083095 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_207420.3(SLC2A7):c.1031G>A (p.Arg344Gln) single nucleotide variant Inborn genetic diseases [RCV003351355] Chr1:9010228 [GRCh38]
Chr1:9070287 [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_207420.3(SLC2A7):c.1116+6A>G single nucleotide variant not provided [RCV003422524] Chr1:9010137 [GRCh38]
Chr1:9070196 [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_207420.3(SLC2A7):c.192C>T (p.His64=) single nucleotide variant not provided [RCV003422527] Chr1:9023037 [GRCh38]
Chr1:9083096 [GRCh37]
Chr1:1p36.23
likely benign
NM_207420.3(SLC2A7):c.670C>T (p.Arg224Cys) single nucleotide variant not provided [RCV003422526] Chr1:9015162 [GRCh38]
Chr1:9075221 [GRCh37]
Chr1:1p36.23
likely benign
NM_207420.3(SLC2A7):c.849G>A (p.Gln283=) single nucleotide variant not provided [RCV003422525] Chr1:9014735 [GRCh38]
Chr1:9074794 [GRCh37]
Chr1:1p36.23
likely benign
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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:321
Count of miRNA genes:294
Interacting mature miRNAs:320
Transcripts:ENST00000400906
Prediction methods: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.

Markers in Region
D1S1273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,073,828 - 9,074,074UniSTSGRCh37
Build 3618,996,415 - 8,996,661RGDNCBI36
Celera18,182,527 - 8,182,773RGD
Cytogenetic Map1p36.2UniSTS
HuRef18,223,630 - 8,223,876UniSTS


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
Medium
Low 61 6 23 2 45 2 1 6 1 13 279 38 3
Below cutoff 1282 1011 734 100 555 54 1524 877 1046 150 606 891 46 575 957

Sequence


RefSeq Acc Id: ENST00000400906   ⟹   ENSP00000383698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,002,973 - 9,026,423 (-)Ensembl
RefSeq Acc Id: NM_207420   ⟹   NP_997303
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,002,973 - 9,026,423 (-)NCBI
GRCh3719,063,359 - 9,086,404 (-)RGD
Build 3618,985,946 - 9,008,991 (-)NCBI Archive
Celera18,172,056 - 8,195,080 (-)RGD
HuRef18,213,158 - 8,236,183 (-)RGD
CHM1_119,053,282 - 9,076,303 (-)NCBI
T2T-CHM13v2.018,536,635 - 8,560,063 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540824   ⟹   XP_011539126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818,992,534 - 9,026,423 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540825   ⟹   XP_011539127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,007,403 - 9,026,423 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054334701   ⟹   XP_054190676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,526,240 - 8,560,063 (-)NCBI
RefSeq Acc Id: XM_054334702   ⟹   XP_054190677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018,541,109 - 8,560,063 (-)NCBI
RefSeq Acc Id: NP_997303   ⟸   NM_207420
- UniProtKB: A2A333 (UniProtKB/Swiss-Prot),   Q6PXP3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539126   ⟸   XM_011540824
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011539127   ⟸   XM_011540825
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000383698   ⟸   ENST00000400906
RefSeq Acc Id: XP_054190676   ⟸   XM_054334701
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190677   ⟸   XM_054334702
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PXP3-F1-model_v2 AlphaFold Q6PXP3 1-512 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13445 AgrOrtholog
COSMIC SLC2A7 COSMIC
Ensembl Genes ENSG00000197241 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000400906 ENTREZGENE
  ENST00000400906.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
GTEx ENSG00000197241 GTEx
HGNC ID HGNC:13445 ENTREZGENE
Human Proteome Map SLC2A7 Human Proteome Map
InterPro GLUT UniProtKB/Swiss-Prot
  MFS_dom UniProtKB/Swiss-Prot
  MFS_sugar_transport-like UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
  Sugar/inositol_transpt UniProtKB/Swiss-Prot
  Sugar_transporter_CS UniProtKB/Swiss-Prot
KEGG Report hsa:155184 UniProtKB/Swiss-Prot
NCBI Gene 155184 ENTREZGENE
OMIM 610371 OMIM
PANTHER PTHR23503 UniProtKB/Swiss-Prot
  SOLUTE CARRIER FAMILY 2, FACILITATED GLUCOSE TRANSPORTER MEMBER 7 UniProtKB/Swiss-Prot
Pfam Sugar_tr UniProtKB/Swiss-Prot
PharmGKB PA37770 PharmGKB
PRINTS SUGRTRNSPORT UniProtKB/Swiss-Prot
PROSITE MFS UniProtKB/Swiss-Prot
  SUGAR_TRANSPORT_1 UniProtKB/Swiss-Prot
  SUGAR_TRANSPORT_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt A2A333 ENTREZGENE
  GTR7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2A333 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC2A7  solute carrier family 2 member 7  SLC2A7  solute carrier family 2 (facilitated glucose transporter), member 7  Symbol and/or name change 5135510 APPROVED