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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Breast Neoplasms | EXP | 11554173 | CTD Direct Evidence: therapeutic | CTD | PMID:15449313 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 1550217 1634504 1695905 8037665 8333543 9691177 11247674 11840567 12477932 12554125 12820898 14757434 15489334 16803853 17251278 17577579 18424253 18439419 19056867 19091748 19913121 20043883 20379614 20628086 20965718 21165569 21873635 21938742 21988832 23084044 23341889 23376485 23533145 23910014 24623722 25326153 26319403 28083649 28514442 28616912 29259131 29660339 29913554 30272826 |
Comparative Map Data| SLC2A5 (Homo sapiens - human) |
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| Slc2a5 (Mus musculus - house mouse) |
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| Slc2a5 (Rattus norvegicus - Norway rat) |
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| Slc2a5 (Chinchilla lanigera - long-tailed chinchilla) |
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| SLC2A5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| LOC489640 (Canis lupus familiaris - dog) |
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| Slc2a5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SLC2A5 (Sus scrofa - pig) |
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Position Markers| RH64477 |
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| RH80220 |
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| G54082 |
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| D1S1254 |
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| SHGC-74178 |
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| RH69141 |
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| D1S274E |
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| SHGC-74165 |
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| RH70560 |
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| D1S274E |
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miRNA Target Status
| 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. |
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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 | |
| 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 | |
| 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 |
| RefSeq Acc Id: | NM_001135585 ⟹ NP_001129057 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
CTTTAGCAATGGGGAAATACCGTAGACTGTTCCATCAGGACAATGCTGGGCCTGCAGTCCCCAGhide sequence |
| RefSeq Acc Id: | NM_001328619 ⟹ NP_001315548 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCTTCTCACAGTCTCCCACCCCGCCCTGCTCGCGGAGCCTGCAGGCCTCGGCCTCATGGCGGCChide sequence |
| RefSeq Acc Id: | NM_001328620 ⟹ NP_001315549 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTTTAGCAATGGGGAAATACCGTAGACTGTTCCATCAGGACAATGCTGGGCCTGCAGTCCCCAGhide sequence |
| RefSeq Acc Id: | NM_001328621 ⟹ NP_001315550 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTTTAGCAATGGGGAAATACCGTAGACTGTTCCATCAGGACAATGCTGGGCCTGCAGTCCCCAGhide sequence |
| RefSeq Acc Id: | NM_003039 ⟹ NP_003030 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
CTTTAGCAATGGGGAAATACCGTAGACTGTTCCATCAGGACAATGCTGGGCCTGCAGTCCCCAGhide sequence |
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 | |
| 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 | |
| P22732 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_003030 ⟸ NM_003039 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | P22732 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEQQDQSMKEGRLTLVLALATLIAAFGSSFQYGYNVAAVNSPALLMQQFYNETYYGRTGEFMEDhide sequence |
| RefSeq Acc Id: | NP_001129057 ⟸ NM_001135585 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | P22732 (UniProtKB/Swiss-Prot), A0A140VJK5 (UniProtKB/TrEMBL) |
| - Sequence: |
MEQQDQSMKEGRLTLVLALATLIAAFGSSFQYGYNVAAVNSPALLMQQFYNETYYGRTGEFMEDhide sequence |
| RefSeq Acc Id: | NP_001315548 ⟸ NM_001328619 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | P22732 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEQQDQSMKEGRLTLVLALATLIAAFGSSFQYGYNVAAVNSPALLMQQFYNETYYGRTGEFMEDhide sequence |
| RefSeq Acc Id: | NP_001315550 ⟸ NM_001328621 |
| - Peptide Label: | isoform 4 |
| - Sequence: |
MYLGELAPKNLRGALGVVPQLFITVGILVAQIFGLRNLLANVDGWPILLGLTGVPAALQLLLLPhide sequence |
| RefSeq Acc Id: | NP_001315549 ⟸ NM_001328620 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | B4DG19 (UniProtKB/TrEMBL) |
| - Sequence: |
MGTTWLLSTPQHWTGEFMEDFPLTLLWSVTVSMFPFGGFIGSLLVGPLVNKFGRKGALLFNNIFhide sequence |
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: |
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| 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: |
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| 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: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 | copy number gain | Global developmental delay [RCV000051794]|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 | Failure to thrive [RCV000053714]|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 | Global developmental delay [RCV000053724]|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 | Global developmental delay [RCV000053755]|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 | Global developmental delay [RCV000053756]|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 | Ductal breast carcinoma [RCV000207058] | Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11 |
uncertain significance |
| chr1:909238-16736132 complex variant | complex | Ductal breast carcinoma [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 |
| 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 |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:11010 | AgrOrtholog |
| COSMIC | SLC2A5 | COSMIC |
| Ensembl Genes | ENSG00000142583 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000366631 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000366641 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000464880 | UniProtKB/TrEMBL | |
| ENSP00000465285 | UniProtKB/TrEMBL | |
| ENSP00000465382 | UniProtKB/TrEMBL | |
| ENSP00000465507 | UniProtKB/TrEMBL | |
| ENSP00000467039 | UniProtKB/TrEMBL | |
| ENSP00000467840 | UniProtKB/TrEMBL | |
| ENSP00000468590 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000377414 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000377424 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000464985 | UniProtKB/TrEMBL | |
| ENST00000473209 | UniProtKB/TrEMBL | |
| ENST00000474145 | UniProtKB/TrEMBL | |
| ENST00000479813 | UniProtKB/TrEMBL | |
| ENST00000484798 | UniProtKB/TrEMBL | |
| ENST00000486632 | UniProtKB/TrEMBL | |
| ENST00000487835 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000142583 | GTEx |
| HGNC ID | HGNC:11010 | ENTREZGENE |
| Human Proteome Map | SLC2A5 | Human Proteome Map |
| InterPro | Fru_transpt_5 | 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:6518 | UniProtKB/Swiss-Prot |
| NCBI Gene | 6518 | ENTREZGENE |
| OMIM | 138230 | OMIM |
| Pfam | Sugar_tr | UniProtKB/Swiss-Prot |
| PharmGKB | PA35880 | PharmGKB |
| PRINTS | GLUCTRSPORT5 | UniProtKB/Swiss-Prot |
| 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 |
| TIGRFAMs | TIGR00879 | UniProtKB/Swiss-Prot |
| UniGene | Hs.530003 | ENTREZGENE |
| UniProt | A0A140VJK5 | ENTREZGENE, UniProtKB/TrEMBL |
| B4DG19 | 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 | |
| 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 |
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| More on SLC2A5 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 68456 |
| Created: | 2001-07-11 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
