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This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SLC2A9 (Solute Carrier Family 2 Member 9) is a Protein Coding gene. Diseases associated with SLC2A9 include Hypouricemia, Renal, 2 and Hypouricemia, Renal, 1. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and glucose transmembrane transporter activity. An important paralog of this gene is SLC2A5.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J010018 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 624.2 | +34.0 | 34037 | 5 | HNRNPL GATAD2A CTCF ZBTB33 REST TFE3 KDM1A RCOR2 POLR2A BACH1 | SLC2A9 MN298094 lnc-WDR1-8 lnc-WDR1-5 DRD5 | |
GH04J010053 | Enhancer | 0.5 | Ensembl | 617.9 | +0.1 | 136 | 2 | CEBPA TFDP1 CEBPB SOX5 CEBPG | SLC2A9 ENSG00000250413 lnc-WDR1-3 DRD5 | |
GH04J010040 | Promoter | 0.3 | EPDnew | 600.4 | +14.6 | 14646 | 0.1 | lnc-WDR1-3 SLC2A9 lnc-WDR1-5 DRD5 | ||
GH04J010056 | Enhancer | 0.3 | Ensembl | 600.7 | -1.4 | -1365 | 0.2 | NR2F6 | SLC2A9 lnc-DRD5-3 WDR1 | |
GH04J010114 | Promoter/Enhancer | 2.6 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 21 | -64.6 | -64643 | 10.6 | HNRNPL CREB1 GATAD2A ZNF629 REST RFX1 LEF1 IKZF1 POLR2A RCOR2 | WDR1 piR-36726 piR-36807 piR-37257 piR-37951 piR-34673 piR-32075 piR-38341 piR-40003 piR-42319 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005351 | carbohydrate:proton symporter activity | NAS | 10860667 |
GO:0005355 | glucose transmembrane transporter activity | IEA | -- |
GO:0015143 | urate transmembrane transporter activity | IDA | 18327257 |
GO:0022857 | transmembrane transporter activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | NAS | 10860667 |
GO:0016323 | basolateral plasma membrane | IEA | -- |
GO:0016324 | apical plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.01
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2 | Uricosurics Pathway, Pharmacodynamics | ||
3 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
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4 | NRF2 pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008645 | hexose transmembrane transport | TAS | -- |
GO:0015747 | urate transport | IEA | -- |
GO:0046415 | urate metabolic process | IMP | 18834626 |
GO:0055085 | transmembrane transport | IEA | -- |
GO:1902600 | proton transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dextrose, unspecified form | Approved, Vet_approved | Pharma | Transporter, substrate | 0 | ||
D-glucose | Approved, Investigational, Vet_approved | Pharma | Transporter, substrate | 0 | ||
Fludeoxyglucose (18F) | Approved, Investigational | Pharma | Transporter, substrate | 0 | ||
Losartan | Approved | Pharma | Antagonist, Transporter, inhibitor | 345 | ||
Probenecid | Approved, Investigational | Pharma | Inhibitor, Inhibition, Activator, Transporter, inhibitor | 40 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC2A9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC2A9 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC2A9 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc2a9 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc2a9 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC2A9 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC2A9 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC2A9 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC2A9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc2a9 30 |
|
||
Str.17199 30 |
|
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Zebrafish (Danio rerio) |
Actinopterygii | slc2a15a 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | sut2 32 |
|
|
|
sut3 32 |
|
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|||
Worm (Caenorhabditis elegans) |
Secernentea | K08F9.1 32 |
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Y61A9LA.1 32 |
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Y37A1A.3 32 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
725274 | Benign: Renal hypouricemia 2; not provided | 10,021,307(-) | A/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
736857 | Benign: not provided | 9,835,014(-) | G/A | INTRON_VARIANT | |
751878 | Likely Benign: not provided | 10,019,056(-) | G/C | SYNONYMOUS_VARIANT | |
829962 | Uncertain Significance: Renal hypouricemia 2 | 9,941,968(-) | C/T | SYNONYMOUS_VARIANT | |
830032 | Likely Pathogenic: Renal hypouricemia 2 | 9,834,957(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypouricemia, renal, 2 |
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hypouricemia, renal, 1 |
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gout |
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nephrolithiasis, uric acid |
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renal artery atheroma |
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