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This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]
SLC2A10 (Solute Carrier Family 2 Member 10) is a Protein Coding gene. Diseases associated with SLC2A10 include Arterial Tortuosity Syndrome and Familial Thoracic Aortic Aneurysm And Aortic Dissection. Among its related pathways are HIF1Alpha Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and glucose transmembrane transporter activity. An important paralog of this gene is SLC2A12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005351 | carbohydrate:proton symporter activity | IBA,NAS | 11247674 |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO:0033300 | dehydroascorbic acid transmembrane transporter activity | IDA | 27153185 |
GO:0055056 | D-glucose transmembrane transporter activity | IDA | 11592815 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA,RCA | 11592815 |
GO:0012505 | endomembrane system | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.37
|
|
2 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
|
|
3 | HIF1Alpha Pathway |
HIF1Alpha Pathway
-
|
|
4 | NRF2 pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008643 | carbohydrate transport | IEA | -- |
GO:0008645 | hexose transmembrane transport | TAS | -- |
GO:0010628 | positive regulation of gene expression | IMP | 16550171 |
GO:0010629 | negative regulation of gene expression | IMP | 16550171 |
GO:0015757 | galactose transmembrane transport | TAS | 16550171 |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC2A10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC2A10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC2A10 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc2a10 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc2a10 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC2A10 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC2A10 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC2A10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC2A10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc2a10 30 |
|
||
Str.16625 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.3328 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc2a10 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
ITR1 31 |
|
ManyToMany | |||
ITR2 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
161099 | Pathogenic: Arterial tortuosity syndrome | 46,727,443(+) | CCCGAGTAGCTGGGAC | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
643278 | Uncertain Significance: Arterial tortuosity syndrome | 46,729,488(+) | G/C | MISSENSE_VARIANT | |
643699 | Uncertain Significance: Arterial tortuosity syndrome | 46,733,794(+) | G/A | MISSENSE_VARIANT | |
644653 | Uncertain Significance: Arterial tortuosity syndrome | 46,729,488(+) | G/A | MISSENSE_VARIANT | |
647015 | Uncertain Significance: Arterial tortuosity syndrome | 46,725,469(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1061899 | CNV | loss | 25217958 |
nsv1136547 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
arterial tortuosity syndrome |
|
|
familial thoracic aortic aneurysm and aortic dissection |
|
|
aortic aneurysm |
|
|
cutis laxa, autosomal dominant 1 |
|
|
aneurysm |
|
|