SLC2A8 (solute carrier family 2 member 8) - Rat Genome Database

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Gene: SLC2A8 (solute carrier family 2 member 8) Homo sapiens
Analyze
Symbol: SLC2A8
Name: solute carrier family 2 member 8
RGD ID: 730862
HGNC Page HGNC:13812
Description: Predicted to enable dehydroascorbic acid transmembrane transporter activity; fructose transmembrane transporter activity; and glucose transmembrane transporter activity. Predicted to be involved in dehydroascorbic acid transport; fructose transmembrane transport; and glucose transmembrane transport. Predicted to act upstream of or within insulin receptor signaling pathway and response to hypoxia. Located in lysosomal membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glucose transporter type 8; glucose transporter type X1; glucose transporter X1; GLUT-8; GLUT8; GLUTX1; solute carrier family 2 (facilitated glucose transporter), member 8; solute carrier family 2, facilitated glucose transporter member 8
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
GRCh389127,397,169 - 127,407,898 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,397,138 - 127,408,424 (+)EnsemblGRCh38hg38GRCh38
GRCh379130,159,448 - 130,170,177 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,199,286 - 129,209,988 (+)NCBINCBI36Build 36hg18NCBI36
Build 349127,239,018 - 127,249,715NCBI
Celera9100,814,105 - 100,824,801 (+)NCBICelera
Cytogenetic Map9q33.3NCBI
HuRef999,775,055 - 99,785,815 (+)NCBIHuRef
CHM1_19130,310,083 - 130,320,879 (+)NCBICHM1_1
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. GLUTX1, a novel mammalian glucose transporter expressed in the central nervous system and insulin-sensitive tissues. Ibberson M, etal., J Biol Chem 2000 Feb 18;275(7):4607-12.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10821868   PMID:11845330   PMID:12477932   PMID:12554125   PMID:16723738   PMID:17897319   PMID:18029348   PMID:19176349   PMID:19554504   PMID:20965718   PMID:21873635   PMID:22452979  
PMID:23234877   PMID:23319000   PMID:24519932   PMID:26186194   PMID:27160096   PMID:27818355   PMID:27922102   PMID:28298427   PMID:28514442   PMID:29590129   PMID:33961781   PMID:35271311  


Genomics

Comparative Map Data
SLC2A8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,397,169 - 127,407,898 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,397,138 - 127,408,424 (+)EnsemblGRCh38hg38GRCh38
GRCh379130,159,448 - 130,170,177 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,199,286 - 129,209,988 (+)NCBINCBI36Build 36hg18NCBI36
Build 349127,239,018 - 127,249,715NCBI
Celera9100,814,105 - 100,824,801 (+)NCBICelera
Cytogenetic Map9q33.3NCBI
HuRef999,775,055 - 99,785,815 (+)NCBIHuRef
CHM1_19130,310,083 - 130,320,879 (+)NCBICHM1_1
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBIT2T-CHM13v2.0
Slc2a8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,862,993 - 32,872,088 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl232,863,002 - 32,872,095 (-)EnsemblGRCm39 Ensembl
GRCm38232,972,981 - 32,982,083 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,972,990 - 32,982,083 (-)EnsemblGRCm38mm10GRCm38
MGSCv37232,828,509 - 32,837,576 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36232,794,998 - 32,804,065 (-)NCBIMGSCv36mm8
Celera232,679,974 - 32,689,041 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Slc2a8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8336,672,589 - 36,682,206 (-)NCBIGRCr8
mRatBN7.2316,274,918 - 16,284,536 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl316,274,925 - 16,284,464 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx319,342,426 - 19,351,767 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0327,927,429 - 27,936,770 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0326,178,921 - 26,188,241 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0312,020,227 - 12,029,920 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl312,020,229 - 12,029,877 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0317,356,860 - 17,366,549 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,962,570 - 11,972,115 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1311,858,949 - 11,868,471 (-)NCBI
Celera311,013,768 - 11,023,313 (-)NCBICelera
Cytogenetic Map3p11NCBI
Slc2a8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554191,177,059 - 1,187,110 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554191,177,752 - 1,187,157 (-)NCBIChiLan1.0ChiLan1.0
SLC2A8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21111,944,489 - 11,956,782 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1911,946,837 - 11,959,128 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0998,517,880 - 98,534,333 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19127,171,671 - 127,183,478 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,171,671 - 127,182,460 (+)Ensemblpanpan1.1panPan2
SLC2A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,921,635 - 55,928,753 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,921,635 - 55,928,753 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha955,125,406 - 55,132,524 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0956,842,917 - 56,850,266 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl956,842,923 - 56,850,266 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1955,602,890 - 55,610,006 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0955,917,939 - 55,925,055 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0956,008,864 - 56,015,980 (-)NCBIUU_Cfam_GSD_1.0
Slc2a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,386,156 - 195,396,547 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648715,154,641 - 15,165,870 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648715,154,712 - 15,164,615 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC2A8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1267,925,193 - 267,937,038 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11267,925,184 - 267,934,096 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21301,835,694 - 301,844,621 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC2A8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,720,266 - 10,731,196 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660795,483,909 - 5,494,978 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc2a8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247608,054,391 - 8,066,784 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247608,057,892 - 8,066,804 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC2A8
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1 copy number loss See cases [RCV000050860] Chr9:126081595..127781685 [GRCh38]
Chr9:128843874..130543964 [GRCh37]
Chr9:127883695..129583785 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_014580.5(SLC2A8):c.277C>A (p.Arg93Ser) single nucleotide variant not specified [RCV004328180] Chr9:127397962 [GRCh38]
Chr9:130160241 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.952C>T (p.Arg318Trp) single nucleotide variant not specified [RCV004329837] Chr9:127404043 [GRCh38]
Chr9:130166322 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:130000337-130310336)x3 copy number gain not provided [RCV000683108] Chr9:130000337..130310336 [GRCh37]
Chr9:9q33.3-34.11
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11
benign
GRCh37/hg19 9q33.3(chr9:130169874-130186028)x1 copy number loss not provided [RCV000748680] Chr9:130169874..130186028 [GRCh37]
Chr9:9q33.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_014580.5(SLC2A8):c.708dup (p.Ile237fs) duplication not provided [RCV000959013] Chr9:127402731..127402732 [GRCh38]
Chr9:130165010..130165011 [GRCh37]
Chr9:9q33.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_014580.5(SLC2A8):c.245C>T (p.Ala82Val) single nucleotide variant not specified [RCV004298934] Chr9:127397930 [GRCh38]
Chr9:130160209 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy, 31 [RCV001364955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001383155] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11
pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_014580.5(SLC2A8):c.659C>T (p.Ala220Val) single nucleotide variant not specified [RCV004303936] Chr9:127402689 [GRCh38]
Chr9:130164968 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
NM_014580.5(SLC2A8):c.568G>A (p.Val190Met) single nucleotide variant not specified [RCV004331878] Chr9:127402598 [GRCh38]
Chr9:130164877 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.452C>G (p.Pro151Arg) single nucleotide variant not specified [RCV004145292] Chr9:127399932 [GRCh38]
Chr9:130162211 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.19G>C (p.Glu7Gln) single nucleotide variant not specified [RCV004125341] Chr9:127397249 [GRCh38]
Chr9:130159528 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.53G>T (p.Gly18Val) single nucleotide variant not specified [RCV004196734] Chr9:127397283 [GRCh38]
Chr9:130159562 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.860A>C (p.Lys287Thr) single nucleotide variant not specified [RCV004227425] Chr9:127403796 [GRCh38]
Chr9:130166075 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.523G>C (p.Ala175Pro) single nucleotide variant not specified [RCV004153693] Chr9:127400003 [GRCh38]
Chr9:130162282 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.77T>C (p.Val26Ala) single nucleotide variant not specified [RCV004210463] Chr9:127397396 [GRCh38]
Chr9:130159675 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.1084C>A (p.Gln362Lys) single nucleotide variant not specified [RCV004073644] Chr9:127404925 [GRCh38]
Chr9:130167204 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.196G>T (p.Asp66Tyr) single nucleotide variant not specified [RCV004216511] Chr9:127397515 [GRCh38]
Chr9:130159794 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.743T>C (p.Leu248Pro) single nucleotide variant not specified [RCV004240879] Chr9:127403679 [GRCh38]
Chr9:130165958 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.1039C>T (p.Pro347Ser) single nucleotide variant not specified [RCV004134701] Chr9:127404880 [GRCh38]
Chr9:130167159 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.809C>T (p.Ser270Leu) single nucleotide variant not specified [RCV004210179] Chr9:127403745 [GRCh38]
Chr9:130166024 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.1057G>A (p.Val353Met) single nucleotide variant not specified [RCV004252313] Chr9:127404898 [GRCh38]
Chr9:130167177 [GRCh37]
Chr9:9q33.3
likely benign
NM_014580.5(SLC2A8):c.996C>A (p.Ser332Arg) single nucleotide variant not specified [RCV004265969] Chr9:127404837 [GRCh38]
Chr9:130167116 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.725G>C (p.Ser242Thr) single nucleotide variant not specified [RCV004268840] Chr9:127403661 [GRCh38]
Chr9:130165940 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.1151G>A (p.Gly384Asp) single nucleotide variant not specified [RCV004307996] Chr9:127405420 [GRCh38]
Chr9:130167699 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.758T>A (p.Ile253Asn) single nucleotide variant not specified [RCV004348635] Chr9:127403694 [GRCh38]
Chr9:130165973 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.18A>C (p.Pro6=) single nucleotide variant not provided [RCV003430247] Chr9:127397248 [GRCh38]
Chr9:130159527 [GRCh37]
Chr9:9q33.3
likely benign
NM_014580.5(SLC2A8):c.394C>T (p.Leu132=) single nucleotide variant not provided [RCV003425785] Chr9:127398079 [GRCh38]
Chr9:130160358 [GRCh37]
Chr9:9q33.3
likely benign
NM_014580.5(SLC2A8):c.578C>T (p.Ser193Phe) single nucleotide variant not provided [RCV003425786] Chr9:127402608 [GRCh38]
Chr9:130164887 [GRCh37]
Chr9:9q33.3
benign
NM_014580.5(SLC2A8):c.283G>A (p.Gly95Arg) single nucleotide variant not specified [RCV004459091] Chr9:127397968 [GRCh38]
Chr9:130160247 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.379C>T (p.Arg127Cys) single nucleotide variant not specified [RCV004459092] Chr9:127398064 [GRCh38]
Chr9:130160343 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.637C>T (p.His213Tyr) single nucleotide variant not specified [RCV004459096] Chr9:127402667 [GRCh38]
Chr9:130164946 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.157A>C (p.Ser53Arg) single nucleotide variant not specified [RCV004459090] Chr9:127397476 [GRCh38]
Chr9:130159755 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.601T>C (p.Phe201Leu) single nucleotide variant not specified [RCV004459094] Chr9:127402631 [GRCh38]
Chr9:130164910 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.112C>G (p.Leu38Val) single nucleotide variant not specified [RCV004459088] Chr9:127397431 [GRCh38]
Chr9:130159710 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.597G>A (p.Met199Ile) single nucleotide variant not specified [RCV004459093] Chr9:127402627 [GRCh38]
Chr9:130164906 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.110C>T (p.Pro37Leu) single nucleotide variant not specified [RCV004459087] Chr9:127397429 [GRCh38]
Chr9:130159708 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.1141T>C (p.Phe381Leu) single nucleotide variant not specified [RCV004459089] Chr9:127404982 [GRCh38]
Chr9:130167261 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_014580.5(SLC2A8):c.619C>T (p.Arg207Cys) single nucleotide variant not specified [RCV004459095] Chr9:127402649 [GRCh38]
Chr9:130164928 [GRCh37]
Chr9:9q33.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4288
Count of miRNA genes:923
Interacting mature miRNAs:1134
Transcripts:ENST00000373352, ENST00000373360, ENST00000373371, ENST00000419132, ENST00000419917, ENST00000423934, ENST00000430147, ENST00000439597, ENST00000451404, ENST00000477027, ENST00000484208, ENST00000484617, ENST00000485806, ENST00000489239
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.

Markers in Region
A005N15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,169,815 - 130,169,934UniSTSGRCh37
Build 369129,209,636 - 129,209,755RGDNCBI36
Celera9100,824,455 - 100,824,574RGD
Cytogenetic Map9q33.3UniSTS
HuRef999,785,453 - 99,785,572UniSTS
GeneMap99-GB4 RH Map9385.61UniSTS
RH91499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,169,696 - 130,169,833UniSTSGRCh37
Build 369129,209,517 - 129,209,654RGDNCBI36
Celera9100,824,336 - 100,824,473RGD
Cytogenetic Map9q33.3UniSTS
HuRef999,785,334 - 99,785,471UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS
RH94275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,164,204 - 130,164,370UniSTSGRCh37
Build 369129,204,025 - 129,204,191RGDNCBI36
Celera9100,818,844 - 100,819,010RGD
Cytogenetic Map9q33.3UniSTS
HuRef999,779,842 - 99,780,008UniSTS
GeneMap99-GB4 RH Map9385.61UniSTS
SLC2A8_3313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,169,445 - 130,170,261UniSTSGRCh37
Build 369129,209,266 - 129,210,082RGDNCBI36
Celera9100,824,085 - 100,824,901RGD
HuRef999,785,083 - 99,785,899UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1856 1210 1329 323 469 305 3096 1132 2164 250 1287 1331 27 715 2040 4
Low 581 1725 390 301 1386 160 1253 1061 1548 169 169 277 144 489 748 1 2
Below cutoff 53 3 63 1 2 11 4 2 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001271711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI818661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ245937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM044230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX395379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC897950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY025817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000373352   ⟹   ENSP00000362450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,397,226 - 127,407,291 (+)Ensembl
RefSeq Acc Id: ENST00000373360   ⟹   ENSP00000362458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,397,231 - 127,407,898 (+)Ensembl
RefSeq Acc Id: ENST00000373371   ⟹   ENSP00000362469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,397,169 - 127,407,898 (+)Ensembl
RefSeq Acc Id: ENST00000419132   ⟹   ENSP00000413973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,397,384 - 127,403,791 (+)Ensembl
RefSeq Acc Id: ENST00000419917   ⟹   ENSP00000411726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,397,207 - 127,404,067 (+)Ensembl
RefSeq Acc Id: ENST00000423934   ⟹   ENSP00000389070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,398,183 - 127,405,476 (+)Ensembl
RefSeq Acc Id: ENST00000430147   ⟹   ENSP00000391213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,399,964 - 127,407,652 (+)Ensembl
RefSeq Acc Id: ENST00000439597   ⟹   ENSP00000404893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,398,183 - 127,405,475 (+)Ensembl
RefSeq Acc Id: ENST00000451404   ⟹   ENSP00000392434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,397,155 - 127,405,555 (+)Ensembl
RefSeq Acc Id: ENST00000477027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,404,023 - 127,408,419 (+)Ensembl
RefSeq Acc Id: ENST00000484208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,407,404 - 127,408,424 (+)Ensembl
RefSeq Acc Id: ENST00000484617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,402,364 - 127,403,747 (+)Ensembl
RefSeq Acc Id: ENST00000485806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,404,049 - 127,405,447 (+)Ensembl
RefSeq Acc Id: ENST00000489239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,403,278 - 127,405,469 (+)Ensembl
RefSeq Acc Id: ENST00000610552   ⟹   ENSP00000477568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,397,138 - 127,407,855 (+)Ensembl
RefSeq Acc Id: NM_001271711   ⟹   NP_001258640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
HuRef999,775,055 - 99,785,815 (+)NCBI
CHM1_19130,310,083 - 130,320,879 (+)NCBI
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001271712   ⟹   NP_001258641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
GRCh379130,159,417 - 130,170,177 (+)NCBI
HuRef999,775,055 - 99,785,815 (+)NCBI
CHM1_19130,310,083 - 130,320,879 (+)NCBI
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014580   ⟹   NP_055395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
GRCh379130,159,417 - 130,170,177 (+)NCBI
Build 369129,199,286 - 129,209,988 (+)NCBI Archive
Celera9100,814,105 - 100,824,801 (+)RGD
HuRef999,775,055 - 99,785,815 (+)NCBI
CHM1_19130,310,083 - 130,320,879 (+)NCBI
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073416
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
GRCh379130,159,417 - 130,170,177 (+)NCBI
HuRef999,775,055 - 99,785,815 (+)NCBI
CHM1_19130,310,083 - 130,320,879 (+)NCBI
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717084   ⟹   XP_006717147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,668 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518602   ⟹   XP_011516904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518603   ⟹   XP_011516905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,398,172 - 127,407,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518604   ⟹   XP_011516906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,398,172 - 127,407,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014653   ⟹   XP_016870142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447526   ⟹   XP_024303294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,668 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423283   ⟹   XP_047279239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
RefSeq Acc Id: XM_047423285   ⟹   XP_047279241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
RefSeq Acc Id: XM_047423286   ⟹   XP_047279242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,668 (+)NCBI
RefSeq Acc Id: XM_047423287   ⟹   XP_047279243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
RefSeq Acc Id: XM_047423288   ⟹   XP_047279244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,404,966 (+)NCBI
RefSeq Acc Id: XM_047423289   ⟹   XP_047279245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,404,902 (+)NCBI
RefSeq Acc Id: XM_047423290   ⟹   XP_047279246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,404,902 (+)NCBI
RefSeq Acc Id: XM_047423292   ⟹   XP_047279248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,403,978 (+)NCBI
RefSeq Acc Id: XM_047423293   ⟹   XP_047279249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,898 (+)NCBI
RefSeq Acc Id: XM_047423294   ⟹   XP_047279250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,169 - 127,407,668 (+)NCBI
RefSeq Acc Id: XM_054362834   ⟹   XP_054218809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362835   ⟹   XP_054218810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362836   ⟹   XP_054218811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,147 (+)NCBI
RefSeq Acc Id: XM_054362837   ⟹   XP_054218812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362838   ⟹   XP_054218813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362839   ⟹   XP_054218814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,147 (+)NCBI
RefSeq Acc Id: XM_054362840   ⟹   XP_054218815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,611,445 (+)NCBI
RefSeq Acc Id: XM_054362841   ⟹   XP_054218816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,604,645 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362842   ⟹   XP_054218817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,611,381 (+)NCBI
RefSeq Acc Id: XM_054362843   ⟹   XP_054218818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,604,645 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362844   ⟹   XP_054218819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,611,381 (+)NCBI
RefSeq Acc Id: XM_054362845   ⟹   XP_054218820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,610,457 (+)NCBI
RefSeq Acc Id: XM_054362846   ⟹   XP_054218821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362847   ⟹   XP_054218822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,147 (+)NCBI
RefSeq Acc Id: XM_054362848   ⟹   XP_054218823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,377 (+)NCBI
RefSeq Acc Id: XM_054362849   ⟹   XP_054218824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,147 (+)NCBI
RefSeq Acc Id: XR_008487994
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBI
RefSeq Acc Id: XR_008487995
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBI
RefSeq Acc Id: XR_008487996
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,614,659 (+)NCBI
RefSeq Acc Id: XR_008487997
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBI
RefSeq Acc Id: XR_008487998
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBI
RefSeq Acc Id: XR_008487999
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBI
RefSeq Acc Id: XR_008488000
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09139,603,648 - 139,615,379 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001258640 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258641 (Get FASTA)   NCBI Sequence Viewer  
  NP_055395 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717147 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516904 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516905 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516906 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870142 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303294 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279239 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279241 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279242 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279243 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279244 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279245 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279246 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279248 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279249 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218811 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218812 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218813 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218814 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218815 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218816 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218817 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218818 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218819 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218820 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218821 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218822 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218823 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218824 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH19043 (Get FASTA)   NCBI Sequence Viewer  
  AAL55771 (Get FASTA)   NCBI Sequence Viewer  
  BAD92349 (Get FASTA)   NCBI Sequence Viewer  
  CAB75702 (Get FASTA)   NCBI Sequence Viewer  
  CAB89809 (Get FASTA)   NCBI Sequence Viewer  
  CBN63384 (Get FASTA)   NCBI Sequence Viewer  
  EAW87660 (Get FASTA)   NCBI Sequence Viewer  
  EAW87661 (Get FASTA)   NCBI Sequence Viewer  
  EAW87662 (Get FASTA)   NCBI Sequence Viewer  
  EAW87663 (Get FASTA)   NCBI Sequence Viewer  
  EAW87664 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362450.1
  ENSP00000362458
  ENSP00000362458.3
  ENSP00000362469
  ENSP00000362469.3
  ENSP00000389070.1
  ENSP00000391213
  ENSP00000391213.1
  ENSP00000392434.1
  ENSP00000404893.1
  ENSP00000411726.1
  ENSP00000413973.1
  ENSP00000477568
  ENSP00000477568.1
GenBank Protein Q9NY64 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055395   ⟸   NM_014580
- Peptide Label: isoform 1
- UniProtKB: Q8WUZ9 (UniProtKB/Swiss-Prot),   Q9NSC4 (UniProtKB/Swiss-Prot),   Q9NY64 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258640   ⟸   NM_001271711
- Peptide Label: isoform 2
- UniProtKB: Q5VVV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258641   ⟸   NM_001271712
- Peptide Label: isoform 3
- UniProtKB: A0A087WT42 (UniProtKB/TrEMBL),   Q5VVV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717147   ⟸   XM_006717084
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011516904   ⟸   XM_011518602
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011516905   ⟸   XM_011518603
- Peptide Label: isoform X8
- UniProtKB: Q5VVV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516906   ⟸   XM_011518604
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016870142   ⟸   XM_017014653
- Peptide Label: isoform X14
- UniProtKB: Q8WZ05 (UniProtKB/TrEMBL),   Q5VVV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303294   ⟸   XM_024447526
- Peptide Label: isoform X13
- UniProtKB: Q5VVV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000389070   ⟸   ENST00000423934
RefSeq Acc Id: ENSP00000404893   ⟸   ENST00000439597
RefSeq Acc Id: ENSP00000392434   ⟸   ENST00000451404
RefSeq Acc Id: ENSP00000362450   ⟸   ENST00000373352
RefSeq Acc Id: ENSP00000362458   ⟸   ENST00000373360
RefSeq Acc Id: ENSP00000362469   ⟸   ENST00000373371
RefSeq Acc Id: ENSP00000477568   ⟸   ENST00000610552
RefSeq Acc Id: ENSP00000413973   ⟸   ENST00000419132
RefSeq Acc Id: ENSP00000391213   ⟸   ENST00000430147
RefSeq Acc Id: ENSP00000411726   ⟸   ENST00000419917
RefSeq Acc Id: XP_047279239   ⟸   XM_047423283
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279243   ⟸   XM_047423287
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279241   ⟸   XM_047423285
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279249   ⟸   XM_047423293
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047279242   ⟸   XM_047423286
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279250   ⟸   XM_047423294
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047279244   ⟸   XM_047423288
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047279245   ⟸   XM_047423289
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279246   ⟸   XM_047423290
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047279248   ⟸   XM_047423292
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054218809   ⟸   XM_054362834
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218812   ⟸   XM_054362837
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218810   ⟸   XM_054362835
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218813   ⟸   XM_054362838
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218823   ⟸   XM_054362848
- Peptide Label: isoform X14
- UniProtKB: Q8WZ05 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218821   ⟸   XM_054362846
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054218811   ⟸   XM_054362836
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218814   ⟸   XM_054362839
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218822   ⟸   XM_054362847
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054218824   ⟸   XM_054362849
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054218815   ⟸   XM_054362840
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054218817   ⟸   XM_054362842
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054218819   ⟸   XM_054362844
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054218820   ⟸   XM_054362845
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054218816   ⟸   XM_054362841
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054218818   ⟸   XM_054362843
- Peptide Label: isoform X10
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY64-F1-model_v2 AlphaFold Q9NY64 1-477 view protein structure

Promoters
RGD ID:7216169
Promoter ID:EPDNEW_H13831
Type:initiation region
Name:SLC2A8_1
Description:solute carrier family 2 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13832  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,201 - 127,397,261EPDNEW
RGD ID:7216171
Promoter ID:EPDNEW_H13832
Type:initiation region
Name:SLC2A8_2
Description:solute carrier family 2 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13831  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,397,317 - 127,397,377EPDNEW
RGD ID:6807540
Promoter ID:HG_KWN:65006
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000373352,   ENST00000373354,   ENST00000373355,   OTTHUMT00000054177,   OTTHUMT00000054180,   OTTHUMT00000054181,   OTTHUMT00000054182,   OTTHUMT00000054184,   UC010MXJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,198,746 - 129,199,392 (+)MPROMDB
RGD ID:6807541
Promoter ID:HG_KWN:65007
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000373350,   OTTHUMT00000054185,   OTTHUMT00000054186
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,200,106 - 129,200,606 (+)MPROMDB
RGD ID:6808235
Promoter ID:HG_KWN:65011
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000054179
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,208,796 - 129,209,296 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13812 AgrOrtholog
COSMIC SLC2A8 COSMIC
Ensembl Genes ENSG00000136856 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373352.5 UniProtKB/TrEMBL
  ENST00000373360 ENTREZGENE
  ENST00000373360.7 UniProtKB/TrEMBL
  ENST00000373371 ENTREZGENE
  ENST00000373371.8 UniProtKB/Swiss-Prot
  ENST00000419132.5 UniProtKB/TrEMBL
  ENST00000419917.5 UniProtKB/TrEMBL
  ENST00000423934.5 UniProtKB/TrEMBL
  ENST00000430147 ENTREZGENE
  ENST00000430147.1 UniProtKB/TrEMBL
  ENST00000439597.5 UniProtKB/TrEMBL
  ENST00000451404.5 UniProtKB/TrEMBL
  ENST00000610552 ENTREZGENE
  ENST00000610552.4 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136856 GTEx
HGNC ID HGNC:13812 ENTREZGENE
Human Proteome Map SLC2A8 Human Proteome Map
InterPro 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:29988 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 29988 ENTREZGENE
OMIM 605245 OMIM
PANTHER PTHR48021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 2, FACILITATED GLUCOSE TRANSPORTER MEMBER 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sugar_tr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37813 PharmGKB
PRINTS 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 A0A087WT42 ENTREZGENE, UniProtKB/TrEMBL
  GTR8_HUMAN UniProtKB/Swiss-Prot
  H0Y7M6_HUMAN UniProtKB/TrEMBL
  Q5VVV3 ENTREZGENE, UniProtKB/TrEMBL
  Q5VVV4 ENTREZGENE, UniProtKB/TrEMBL
  Q5VVV5_HUMAN UniProtKB/TrEMBL
  Q5VVV6_HUMAN UniProtKB/TrEMBL
  Q5VVV9 ENTREZGENE, UniProtKB/TrEMBL
  Q5VVW0_HUMAN UniProtKB/TrEMBL
  Q5VVW5_HUMAN UniProtKB/TrEMBL
  Q8WUZ9 ENTREZGENE
  Q8WZ05 ENTREZGENE, UniProtKB/TrEMBL
  Q9NSC4 ENTREZGENE
  Q9NY64 ENTREZGENE
UniProt Secondary E9PFS6 UniProtKB/TrEMBL
  Q8WUZ9 UniProtKB/Swiss-Prot
  Q9NSC4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC2A8  solute carrier family 2 member 8    solute carrier family 2 (facilitated glucose transporter), member 8  Symbol and/or name change 5135510 APPROVED