Version 5.4
| Homo sapiens Protein: SLC2A9 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-484286.4 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | SLC2A9 | ||||||||||||||||||
| Protein Name | solute carrier family 2 (facilitated glucose transporter), member 9 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000422209 | ||||||||||||||||||
| InnateDB Gene | IDBG-9921 (SLC2A9) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate. {ECO:0000269PubMed:14739288, ECO:0000269PubMed:18327257}. | ||||||||||||||||||
| Subcellular Localization | Membrane {ECO:0000269PubMed:14739288}; Multi-pass membrane protein {ECO:0000269PubMed:14739288}. | ||||||||||||||||||
| Disease Associations | Hypouricemia renal 2 (RHUC2) [MIM:612076]: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. {ECO:0000269PubMed:19026395, ECO:0000269PubMed:19926891, ECO:0000269PubMed:21810765}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Most strongly expressed in basolateral membranes of proximal renal tubular cells, liver and placenta. Also detected in lung, blood leukocytes, heart skeletal muscle and chondrocytes from articular cartilage. Isoform 2 is only detected in the apical membranes of polarized renal tubular cells and placenta. Isoform 1 and isoform 2 are detected in kidney membrane (at protein level). {ECO:0000269PubMed:11991658}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR003663
Sugar/inositol transporter IPR005828 General substrate transporter IPR011701 Major facilitator superfamily IPR016196 Major facilitator superfamily domain, general substrate transporter IPR020846 Major facilitator superfamily domain |
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| PFAM |
PF00083
PF07690 |
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| PRINTS |
PR00171
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| PIRSF | |||||||||||||||||||
| SMART | |||||||||||||||||||
| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9NRM0 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q9NRM0 | ||||||||||||||||||
| TrEMBL | D6REK5 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 56606 | ||||||||||||||||||
| UniGene | Hs.732065 | ||||||||||||||||||
| RefSeq | XP_006714032 | ||||||||||||||||||
| HUGO | HGNC:13446 | ||||||||||||||||||
| OMIM | 606142 | ||||||||||||||||||
| CCDS | CCDS3406 | ||||||||||||||||||
| HPRD | 05848 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC005674 AC098976 AC108199 AF210317 AF421859 BC018897 BC110414 | ||||||||||||||||||
| GenPept | AAF85942 AAH18897 AAI10415 AAL16939 AAY41052 | ||||||||||||||||||