SLC2A9 Gene (Protein Coding)

Solute Carrier Family 2 Member 9

GC04M009772
GIFtS:
47
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, J... See more...

Aliases for SLC2A9 Gene

Aliases for SLC2A9 Gene

  • Solute Carrier Family 2 Member 9 2 3 5
  • Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 9 2 3
  • Solute Carrier Family 2, Facilitated Glucose Transporter Member 9 3 4
  • Urate Voltage-Driven Efflux Transporter 1 2 3
  • Glucose Transporter Type 9 3 4
  • Urate Transporter 3 4
  • GLUT-9 3 4
  • GLUT9 3 4
  • Human Glucose Transporter-Like Protein-9 3
  • UAQTL2 3
  • URATv1 3
  • GLUTX 3

External Ids for SLC2A9 Gene

Previous GeneCards Identifiers for SLC2A9 Gene

  • GC04M009497
  • GC04M009778
  • GC04M009578
  • GC04M009504
  • GC04M009827
  • GC04M009162

Summaries for SLC2A9 Gene

Entrez Gene Summary for SLC2A9 Gene

  • 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]

GeneCards Summary for SLC2A9 Gene

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 Uricosurics Pathway, Pharmacodynamics. 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.

UniProtKB/Swiss-Prot Summary for SLC2A9 Gene

  • Urate transporter, which may play a role in the urate reabsorption by proximal tubules (PubMed:18327257, PubMed:28083649). Does not transport glucose, fructose or galactose (PubMed:28083649).

Gene Wiki entry for SLC2A9 Gene

Additional gene information for SLC2A9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC2A9 Gene

Genomics for SLC2A9 Gene

GeneHancer (GH) Regulatory Elements for SLC2A9 Gene

Promoters and enhancers for SLC2A9 Gene
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 524.2 +34.0 34037 5 CTCF NRF1 MYC USF1 POLR2G NCOR1 POLR2A TARDBP REST TOE1 SLC2A9 lnc-WDR1-8 lnc-WDR1-5
GH04J010053 Enhancer 0.5 Ensembl 517.9 +0.1 136 2 USF1 TFDP1 CEBPB SOX5 CEBPG CEBPA SLC2A9 ENSG00000250413 lnc-WDR1-3
GH04J010040 Promoter 0.3 EPDnew 500.4 +14.6 14646 0.1 lnc-WDR1-3 SLC2A9 lnc-WDR1-5
GH04J010056 Enhancer 0.3 Ensembl 500.7 -1.4 -1365 0.2 NR2F6 SLC2A9 lnc-DRD5-3
GH04J010114 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21 -64.6 -64643 10.6 EP300 FOXK2 ZBTB40 SIN3A TCF12 NRF1 POLR2G NCOR1 GTF2E2 PHF8 WDR1 piR-36807 piR-40003 piR-37257 piR-37951 piR-32075 piR-34673 piR-38341 piR-44237 piR-42319
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC2A9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC2A9

Top Transcription factor binding sites by QIAGEN in the SLC2A9 gene promoter:
  • Ik-3
  • LUN-1
  • Pax-2
  • Pax-2a
  • Pax-5
  • Pax-6
  • POU2F1
  • POU2F1a

Genomic Locations for SLC2A9 Gene

Genomic Locations for SLC2A9 Gene
chr4:9,771,125-10,054,936
(GRCh38/hg38)
Size:
283,812 bases
Orientation:
Minus strand
chr4:9,772,777-10,056,560
(GRCh37/hg19)
Size:
283,784 bases
Orientation:
Minus strand

Genomic View for SLC2A9 Gene

Genes around SLC2A9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC2A9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC2A9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC2A9 Gene

Proteins for SLC2A9 Gene

Products:

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  3. Assay

  • Protein details for SLC2A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRM0-GTR9_HUMAN
    Recommended name:
    Solute carrier family 2, facilitated glucose transporter member 9
    Protein Accession:
    Q9NRM0
    Secondary Accessions:
    • Q0VGC4
    • Q4W5D1
    • Q8WV30
    • Q96P00

    Protein attributes for SLC2A9 Gene

    Size:
    540 amino acids
    Molecular mass:
    58702 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC2A9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC2A9 Gene

Protein Expression for SLC2A9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC2A9 Gene

  • Glycosylation at Asn90
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC2A9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC2A9 Gene

Domains & Families for SLC2A9 Gene

Gene Families for SLC2A9 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC2A9 Gene

Blocks:
  • Sugar transporter superfamily
  • Sugar transporter signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC2A9 Gene

GenScript: Design optimal peptide antigens:
  • Glucose transporter type 9 (GTR9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRM0

UniProtKB/Swiss-Prot:

GTR9_HUMAN :
  • Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Family:
  • Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
genes like me logo Genes that share domains with SLC2A9: view

Function for SLC2A9 Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for SLC2A9 Gene

UniProtKB/Swiss-Prot Function:
Urate transporter, which may play a role in the urate reabsorption by proximal tubules (PubMed:18327257, PubMed:28083649). Does not transport glucose, fructose or galactose (PubMed:28083649).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=urate(out) = urate(in); Xref=Rhea:RHEA:60368, ChEBI:CHEBI:17775; Evidence=. ;.

Phenotypes From GWAS Catalog for SLC2A9 Gene

Gene Ontology (GO) - Molecular Function for SLC2A9 Gene

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 --
genes like me logo Genes that share ontologies with SLC2A9: view
genes like me logo Genes that share phenotypes with SLC2A9: view

Human Phenotype Ontology for SLC2A9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC2A9 Gene

MGI Knock Outs for SLC2A9:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC2A9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC2A9 Gene

Localization for SLC2A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC2A9 Gene

[Isoform 1]: Basolateral cell membrane; Multi-pass membrane protein.
[Isoform 2]: Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC2A9 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 2
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC2A9 Gene

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 --
genes like me logo Genes that share ontologies with SLC2A9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC2A9 Gene

Pathways & Interactions for SLC2A9 Gene

genes like me logo Genes that share pathways with SLC2A9: view

Pathways by source for SLC2A9 Gene

1 BioSystems pathway for SLC2A9 Gene
1 PharmGKB pathway for SLC2A9 Gene
1 Qiagen pathway for SLC2A9 Gene
  • Antioxidant Action of Vitamin-C

Interacting Proteins for SLC2A9 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000264784 Q9NRM0-GTR9_HUMAN for SLC2A9 Gene via STRING IID

GPS-Prot Interaction Network for SLC2A9
;

Gene Ontology (GO) - Biological Process for SLC2A9 Gene

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 --
genes like me logo Genes that share ontologies with SLC2A9: view

No data available for SIGNOR curated interactions for SLC2A9 Gene

Drugs & Compounds for SLC2A9 Gene

Products:

  1. Drug

(11) Drugs for SLC2A9 Gene - From: DrugBank, ClinicalTrials, and Novoseek

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 330
Probenecid Approved, Investigational Pharma Inhibition, Inhibitor, Activator, Transporter, inhibitor 40

(2) Additional Compounds for SLC2A9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC2A9: view

Transcripts for SLC2A9 Gene

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for SLC2A9 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC2A9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC2A9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - -
SP2: - - -
SP3:
SP4: -

Relevant External Links for SLC2A9 Gene

GeneLoc Exon Structure for
SLC2A9

Expression for SLC2A9 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC2A9 Gene

mRNA expression in normal human tissues for SLC2A9 Gene
mRNA expression by GTEx for SLC2A9 GenemRNA expression by BioGPS for SLC2A9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC2A9 Gene

This gene is overexpressed in Kidney - Cortex (x9.4).

Protein differential expression in normal tissues from HIPED for SLC2A9 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.7), Urine (18.9), Fetal Liver (13.4), and Kidney (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC2A9 Gene



Protein tissue co-expression partners for SLC2A9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC2A9

SOURCE GeneReport for Unigene cluster for SLC2A9 Gene:

Hs.656895

mRNA Expression by UniProt/SwissProt for SLC2A9 Gene:

Q9NRM0-GTR9_HUMAN
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).

Evidence on tissue expression from TISSUES for SLC2A9 Gene

  • Kidney(4.6)
  • Liver(4.3)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC2A9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • rectum
genes like me logo Genes that share expression patterns with SLC2A9: view

Orthologs for SLC2A9 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC2A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SLC2A9 31 30
  • 99.1 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SLC2A9 31 30
  • 86.47 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SLC2A9 31 30
  • 83.54 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Slc2a9 30
  • 83 (n)
mouse
(Mus musculus)
 Mammalia Slc2a9 17 31 30
  • 82.34 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SLC2A9 31
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SLC2A9 31
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SLC2A9 31 30
  • 68.8 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SLC2A9 31
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia slc2a9 30
  • 63.22 (n)
Str.17199 30
zebrafish
(Danio rerio)
 Actinopterygii slc2a15a 31
  • 45 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta sut2 32
  • 27 (a)
sut3 32
  • 26 (a)
worm
(Caenorhabditis elegans)
 Secernentea K08F9.1 32
  • 25 (a)
Y61A9LA.1 32
  • 24 (a)
Y37A1A.3 32
  • 23 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 27 (a)
 OneToMany
Species where no ortholog for SLC2A9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC2A9 Gene

ENSEMBL:
Gene Tree for SLC2A9 (if available)
TreeFam:
Gene Tree for SLC2A9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC2A9: view image

Paralogs for SLC2A9 Gene

Paralogs for SLC2A9 Gene

(11) SIMAP similar genes for SLC2A9 Gene using alignment to 2 proteins:

  • GTR9_HUMAN
  • D6REK5_HUMAN
genes like me logo Genes that share paralogs with SLC2A9: view

Variants for SLC2A9 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for SLC2A9 Gene

GTR9_HUMAN-Q9NRM0
Genetic variations in SLC2A9 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 2 (UAQTL2) [MIM:612076] (PubMed:18327257). Excess serum accumulation of uric acid can lead to the development of gout (PubMed:18327257).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC2A9 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
725274 Benign: 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
rs10939650 Benign: Familial renal hypouricemia 9,996,816(-) C/T SYNONYMOUS_VARIANT
rs112404957 Likely Benign: Familial renal hypouricemia. - 9,920,563(-) G/Ap.Thr275Met MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC2A9 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC2A9 Gene

Variant ID Type Subtype PubMed ID
dgv135n6 CNV deletion 16902084
dgv2736n106 CNV deletion 24896259
dgv312e215 CNV deletion 23714750
dgv313e215 CNV deletion 23714750
dgv5108n100 CNV gain 25217958
dgv5117n100 CNV gain 25217958
dgv5118n100 CNV gain 25217958
dgv5119n100 CNV loss 25217958
esv2162646 CNV deletion 18987734
esv2217569 CNV deletion 18987734
esv2425297 CNV insertion 19546169
esv24465 CNV loss 19812545
esv2470501 CNV deletion 19546169
esv25020 CNV loss 19812545
esv2669053 CNV deletion 23128226
esv2727156 CNV deletion 23290073
esv2727157 CNV deletion 23290073
esv2727158 CNV deletion 23290073
esv2727159 CNV deletion 23290073
esv2727160 CNV deletion 23290073
esv2727161 CNV deletion 23290073
esv2752052 CNV gain 17911159
esv2757 CNV loss 18987735
esv2759222 CNV gain+loss 17122850
esv2763339 CNV gain 21179565
esv3378984 CNV insertion 20981092
esv3569283 CNV loss 25503493
esv3569284 CNV loss 25503493
esv3599589 CNV gain 21293372
esv3599593 CNV gain 21293372
esv3599595 CNV loss 21293372
esv3599596 CNV loss 21293372
esv3599597 CNV loss 21293372
esv3599598 CNV gain 21293372
esv3893873 CNV loss 25118596
nsv1003496 CNV loss 25217958
nsv1005698 CNV gain 25217958
nsv1013487 CNV gain 25217958
nsv1014335 CNV gain 25217958
nsv10449 CNV gain 18304495
nsv1111264 CNV tandem duplication 24896259
nsv1126683 CNV deletion 24896259
nsv1139215 CNV deletion 24896259
nsv1146296 CNV deletion 26484159
nsv1153967 CNV deletion 26484159
nsv290026 CNV deletion 16902084
nsv433443 CNV loss 18776910
nsv461259 CNV loss 19166990
nsv469621 CNV loss 16826518
nsv519519 CNV loss 19592680
nsv524654 CNV loss 19592680
nsv525177 CNV loss 19592680
nsv527147 CNV gain 19592680
nsv527211 CNV loss 19592680
nsv593690 CNV loss 21841781
nsv593691 CNV loss 21841781
nsv829857 CNV gain 17160897
nsv954404 CNV deletion 24416366

Variation tolerance for SLC2A9 Gene

Residual Variation Intolerance Score: 41.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.85; 96.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC2A9 Gene

Human Gene Mutation Database (HGMD)
SLC2A9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC2A9

Disorders for SLC2A9 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC2A9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypouricemia, renal, 2
  • rhuc2
hypouricemia, renal, 1
  • rhuc1
gout
  • articular gout
hyperuricemia
  • blood urate raized
nephrolithiasis, uric acid
  • nephrolithiasis, uric acid, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GTR9_HUMAN
  • 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:0000269 PubMed:19026395, ECO:0000269 PubMed:19926891, ECO:0000269 PubMed:21810765}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC2A9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC2A9: view

No data available for Genatlas for SLC2A9 Gene

Publications for SLC2A9 Gene

  1. Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9). (PMID: 10860667) Phay JE … Moley JF (Genomics 2000) 2 3 4 23 54
  2. Association of nephrolithiasis and gene for glucose transporter type 9 (SLC2A9): study of 145 patients. (PMID: 20162745) Polasek O … Lauc G (Croatian medical journal 2010) 3 23 41 54
  3. Homozygous SLC2A9 mutations cause severe renal hypouricemia. (PMID: 19926891) Dinour D … Holtzman EJ (Journal of the American Society of Nephrology : JASN 2010) 3 4 23 54
  4. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. (PMID: 19026395) Matsuo H … Shinomiya N (American journal of human genetics 2008) 3 4 23 54
  5. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. (PMID: 18327256) Döring A … Meisinger C (Nature genetics 2008) 3 4 41 54

ExternalLinks

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