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    SLC5A11 solute carrier family 5 member 11 [ Homo sapiens (human) ]

    Gene ID: 115584, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SLC5A11provided by HGNC
    Official Full Name
    solute carrier family 5 member 11provided by HGNC
    Primary source
    HGNC:HGNC:23091
    See related
    Ensembl:ENSG00000158865 MIM:610238; AllianceGenome:HGNC:23091
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KST1; RKST1; SGLT6; SMIT2
    Summary
    Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in small intestine (RPKM 3.6), brain (RPKM 1.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p12.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (24845963..24911626)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (25121090..25191255)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (24857284..24922947)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene acyl-CoA-binding domain-containing protein 7-like Neighboring gene trinucleotide repeat containing adaptor 6A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10600 Neighboring gene long intergenic non-protein coding RNA 1567 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:24695075-24695665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24697561-24698060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24834133-24834633 Neighboring gene Sharpr-MPRA regulatory region 7462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24917770-24918270 Neighboring gene Rho GTPase activating protein 17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:24999769-25000372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10601 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:25025578-25026246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:25026247-25026915 Neighboring gene thyroid hormone receptor interactor 11 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families. Roll P, et al. Gene, 2002 Feb 20. PMID 12039040
    2. Human sodium/inositol cotransporter 2 (SMIT2) transports inositols but not glucose in L6 cells. Lin X, et al. Arch Biochem Biophys, 2009 Jan 15. PMID 19032932, Free PMC Article
    3. Identification of a novel Na+/myo-inositol cotransporter. Coady MJ, et al. J Biol Chem, 2002 Sep 20. PMID 12133831
    4. The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE. Tsai LJ, et al. Tissue Antigens, 2008 Feb. PMID 18069935
    5. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. Chung SA, et al. J Am Soc Nephrol, 2014 Dec. PMID 24925725, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. SLC5A11 is involved with some immune effects and interacts with immune-related gene(s); it is consistent with its function as an autoimmune modifier gene.
      Title: The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucose:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables myo-inositol transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables polyol transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glucose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myo-inositol transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in myo-inositol transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in polyol transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sodium/myo-inositol cotransporter 2
    Names
    Na(+)/myo-inositol cotransporter 2
    homolog of rabbit KST1
    putative sodium-coupled cotransporter RKST1
    sodium-dependent glucose cotransporter
    sodium/glucose cotransporter KST1
    sodium/myo-inositol transporter 2
    solute carrier family 5 (sodium/glucose cotransporter), member 11
    solute carrier family 5 (sodium/inositol cotransporter), member 11

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001258411.3 → NP_001245340.1  sodium/myo-inositol cotransporter 2 isoform 2

      See identical proteins and their annotated locations for NP_001245340.1

      Status: VALIDATED

      Source sequence(s)
      AK303691, AY044906, DC332171, KC877600
      Consensus CDS
      CCDS58437.1
      UniProtKB/TrEMBL
      B7Z8N3
      Related
      ENSP00000454401.1, ENST00000567758.6
      Conserved Domains (1) summary
      cl00456
      Location:28 → 640
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. NM_001258412.3 → NP_001245341.1  sodium/myo-inositol cotransporter 2 isoform 3

      See identical proteins and their annotated locations for NP_001245341.1

      Status: VALIDATED

      Source sequence(s)
      AK295427, AY044906, DC332171, KC877600
      Consensus CDS
      CCDS58438.1
      UniProtKB/TrEMBL
      B7Z8N3
      Related
      ENSP00000456234.1, ENST00000568579.6
      Conserved Domains (1) summary
      cl00456
      Location:28 → 605
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. NM_001258413.3 → NP_001245342.1  sodium/myo-inositol cotransporter 2 isoform 4

      See identical proteins and their annotated locations for NP_001245342.1

      Status: VALIDATED

      Source sequence(s)
      AY044906, BC057780, DC332171, KC877600
      Consensus CDS
      CCDS58439.1
      UniProtKB/TrEMBL
      B7Z534
      Related
      ENSP00000457179.1, ENST00000565769.5
      Conserved Domains (1) summary
      cl00456
      Location:1 → 611
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    4. NM_001258414.2 → NP_001245343.1  sodium/myo-inositol cotransporter 2 isoform 5

      See identical proteins and their annotated locations for NP_001245343.1

      Status: VALIDATED

      Source sequence(s)
      BC049385, DC332171
      Consensus CDS
      CCDS58440.1
      UniProtKB/Swiss-Prot
      Q8WWX8
      Related
      ENSP00000456376.1, ENST00000569071.2
      Conserved Domains (1) summary
      cl00456
      Location:1 → 519
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    5. NM_001352235.2 → NP_001339164.1  sodium/myo-inositol cotransporter 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      UniProtKB/TrEMBL
      B7Z534
      Conserved Domains (1) summary
      cl00456
      Location:29 → 662
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    6. NM_001352236.2 → NP_001339165.1  sodium/myo-inositol cotransporter 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      Consensus CDS
      CCDS58439.1
      UniProtKB/TrEMBL
      B7Z534
      Conserved Domains (1) summary
      cl00456
      Location:1 → 611
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    7. NM_001352237.2 → NP_001339166.1  sodium/myo-inositol cotransporter 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      UniProtKB/TrEMBL
      B7Z534
      Conserved Domains (1) summary
      cl00456
      Location:1 → 576
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    8. NM_001352238.2 → NP_001339167.1  sodium/myo-inositol cotransporter 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      Consensus CDS
      CCDS58437.1
      UniProtKB/TrEMBL
      B7Z8N3
      Conserved Domains (1) summary
      cl00456
      Location:28 → 640
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    9. NM_001352242.2 → NP_001339171.1  sodium/myo-inositol cotransporter 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      Consensus CDS
      CCDS10625.1
      UniProtKB/Swiss-Prot
      B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
      UniProtKB/TrEMBL
      B7Z8N3
      Conserved Domains (1) summary
      cd11490
      Location:28 → 675
      SLC5sbd_SGLT6; Na(+)/chiro-inositol cotransporter SGLT6 and related proteins; solute-binding domain

    10. NM_001352245.2 → NP_001339174.1  sodium/myo-inositol cotransporter 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC008731
      Conserved Domains (1) summary
      cl00456
      Location:28 → 583
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    11. NM_001352246.2 → NP_001339175.1  sodium/myo-inositol cotransporter 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC008731
      Conserved Domains (1) summary
      cl00456
      Location:28 → 583
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    12. NM_001352247.2 → NP_001339176.1  sodium/myo-inositol cotransporter 2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC008731
      Conserved Domains (1) summary
      cl00456
      Location:28 → 548
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    13. NM_001352248.3 → NP_001339177.1  sodium/myo-inositol cotransporter 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      Consensus CDS
      CCDS10625.1
      UniProtKB/Swiss-Prot
      B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
      UniProtKB/TrEMBL
      B7Z8N3
      Related
      ENSP00000416782.3, ENST00000424767.7
      Conserved Domains (1) summary
      cd11490
      Location:28 → 675
      SLC5sbd_SGLT6; Na(+)/chiro-inositol cotransporter SGLT6 and related proteins; solute-binding domain

    14. NM_001352249.2 → NP_001339178.1  sodium/myo-inositol cotransporter 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      Consensus CDS
      CCDS58439.1
      UniProtKB/TrEMBL
      B7Z534
      Conserved Domains (1) summary
      cl00456
      Location:1 → 611
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    15. NM_001352250.2 → NP_001339179.1  sodium/myo-inositol cotransporter 2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      UniProtKB/TrEMBL
      B7Z8N3
      Conserved Domains (1) summary
      cl00456
      Location:28 → 648
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    16. NM_001352259.2 → NP_001339188.1  sodium/myo-inositol cotransporter 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      Consensus CDS
      CCDS58439.1
      UniProtKB/TrEMBL
      B7Z534
      Conserved Domains (1) summary
      cl00456
      Location:1 → 611
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    17. NM_001394076.1 → NP_001381005.1  sodium/myo-inositol cotransporter 2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      UniProtKB/TrEMBL
      B7Z8N3
      Conserved Domains (1) summary
      cl00456
      Location:28 → 648
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    18. NM_001394077.1 → NP_001381006.1  sodium/myo-inositol cotransporter 2 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      UniProtKB/TrEMBL
      B7Z8N3
      Conserved Domains (1) summary
      cl00456
      Location:28 → 613
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    19. NM_001394078.1 → NP_001381007.1  sodium/myo-inositol cotransporter 2 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      UniProtKB/TrEMBL
      B7Z534
      Conserved Domains (1) summary
      cl00456
      Location:4 → 576
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    20. NM_001394079.1 → NP_001381008.1  sodium/myo-inositol cotransporter 2 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      UniProtKB/TrEMBL
      B7Z534
      Conserved Domains (1) summary
      cl00456
      Location:1 → 565
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    21. NM_001394080.1 → NP_001381009.1  sodium/myo-inositol cotransporter 2 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC008731
      Conserved Domains (1) summary
      cl00456
      Location:28 → 556
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RNA

    1. NR_147933.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    2. NR_147934.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600
      Related
      ENST00000545376.6

    3. NR_147935.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    4. NR_147936.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    5. NR_147938.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    6. NR_147939.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    7. NR_147940.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    8. NR_172075.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    9. NR_172076.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    10. NR_172077.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008731, KC877600

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      24845963..24911626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545725.3 → XP_011544027.2  sodium/myo-inositol cotransporter 2 isoform X3

      UniProtKB/TrEMBL
      B7Z8N3

    2. XM_047433573.1 → XP_047289529.1  sodium/myo-inositol cotransporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
      Related
      ENSP00000289932.3, ENST00000347898.7

    3. XM_047433574.1 → XP_047289530.1  sodium/myo-inositol cotransporter 2 isoform X2

    4. XM_017022903.2 → XP_016878392.1  sodium/myo-inositol cotransporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5
      UniProtKB/TrEMBL
      B7Z8N3
      Conserved Domains (1) summary
      cd11490
      Location:28 → 675
      SLC5sbd_SGLT6; Na(+)/chiro-inositol cotransporter SGLT6 and related proteins; solute-binding domain

    5. XM_047433575.1 → XP_047289531.1  sodium/myo-inositol cotransporter 2 isoform X4

    6. XM_011545728.1 → XP_011544030.1  sodium/myo-inositol cotransporter 2 isoform X5

      Conserved Domains (1) summary
      cl00456
      Location:1 → 365
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160019.1 Reference GRCh38.p14 PATCHES

      Range
      94827..165109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332625.1 → XP_054188600.1  sodium/myo-inositol cotransporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5

    2. XM_054332627.1 → XP_054188602.1  sodium/myo-inositol cotransporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5

    3. XM_054332629.1 → XP_054188604.1  sodium/myo-inositol cotransporter 2 isoform X4

    4. XM_054332626.1 → XP_054188601.1  sodium/myo-inositol cotransporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z329, Q05BF1, Q6PF02, Q6ZUW3, Q86Y55, Q8WWX8, Q96PP5

    5. XM_054332628.1 → XP_054188603.1  sodium/myo-inositol cotransporter 2 isoform X3

    6. XM_054332630.1 → XP_054188605.1  sodium/myo-inositol cotransporter 2 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      25121090..25191255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379511.1 → XP_054235486.1  sodium/myo-inositol cotransporter 2 isoform X1

    2. XM_054379512.1 → XP_054235487.1  sodium/myo-inositol cotransporter 2 isoform X1

    3. XM_054379515.1 → XP_054235490.1  sodium/myo-inositol cotransporter 2 isoform X4

    4. XM_054379513.1 → XP_054235488.1  sodium/myo-inositol cotransporter 2 isoform X2

    5. XM_054379514.1 → XP_054235489.1  sodium/myo-inositol cotransporter 2 isoform X3

    6. XM_054379516.1 → XP_054235491.1  sodium/myo-inositol cotransporter 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWX8.1 GenPept UniProtKB/Swiss-Prot:Q8WWX8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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