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    SLC2A13 solute carrier family 2 member 13 [ Homo sapiens (human) ]

    Gene ID: 114134, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC2A13provided by HGNC
    Official Full Name
    solute carrier family 2 member 13provided by HGNC
    Primary source
    HGNC:HGNC:15956
    See related
    Ensembl:ENSG00000151229 MIM:611036; AllianceGenome:HGNC:15956
    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
    HMIT
    Summary
    Enables ATPase binding activity; myo-inositol:proton symporter activity; and protease binding activity. Involved in myo-inositol transport and positive regulation of amyloid-beta formation. Located in cell body; cell projection; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 11.8), kidney (RPKM 3.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC2A13 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (39755025..40106081, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (39704874..40055977, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (40148827..40499883, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6202 Neighboring gene ribosomal protein L7a pseudogene 74 Neighboring gene uncharacterized LOC124902918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:39968122-39968922 Neighboring gene ATP binding cassette subfamily D member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6205 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:40069543-40069733 Neighboring gene regulator of DNA class I crossover intermediates 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40092729-40093230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40093231-40093730 Neighboring gene small nucleolar RNA SNORA22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:40340515-40341014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40372394-40372950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40371836-40372393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4349 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:40422025-40423224 Neighboring gene uncharacterized LOC112268095 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28378 Neighboring gene Sharpr-MPRA regulatory region 12222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4350 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4354 Neighboring gene ribosomal protein L30 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6206 Neighboring gene LRRK2 divergent transcript Neighboring gene long intergenic non-protein coding RNA 2471 Neighboring gene uncharacterized LOC105369735

    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. Identification of a mammalian H(+)-myo-inositol symporter expressed predominantly in the brain. Uldry M, et al. EMBO J, 2001 Aug 15. PMID 11500374, Free PMC Article
    2. The genetic variants in calcium signaling related genes influence anti-tuberculosis drug induced liver injury: A prospective study. Lyu M, et al. Medicine (Baltimore), 2019 Nov. PMID 31689868, Free PMC Article
    3. Evaluation of expression and function of the H+/myo-inositol transporter HMIT. Di Daniel E, et al. BMC Cell Biol, 2009 Jul 16. PMID 19607714, Free PMC Article
    4. The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia. Lai B, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 31918632, Free PMC Article
    5. Human brain proteins showing neuron-specific interactions with γ-secretase. Inoue M, et al. FEBS J, 2015 Jul. PMID 25893612

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia.
      Title: The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia.
    2. Our study revealed that both BDKRB2 and TENM2 genetic polymorphisms were interrogated in relation to anti-tuberculosis drug induced liver injury (ATDILI) susceptibility and some laboratory indicators in the Western Chinese Han population, shedding a new light on exploring novel biomarkers and targets for ATDILI.
      Title: The genetic variants in calcium signaling related genes influence anti-tuberculosis drug induced liver injury: A prospective study.
    3. SLC2A13 is a novel gamma-secretase associated protein that regulates amyloid beta production without affecting Notch cleavage.
      Title: Proton myo-inositol cotransporter is a novel γ-secretase associated protein that regulates Aβ production without affecting Notch cleavage.
    4. 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.
    5. genetic alterations of TSPAN14, SLC2A13 and PHF20 could play a role in non-small-cell lung cancer promotion
      Title: Identification of genes associated with non-small-cell lung cancer promotion and progression.
    6. HMIT is primarily a neuronal transporter widely expressed in the rat and human brain, with particularly high levels in the hippocampus and cortex, as shown by immunohistochemistry.
      Title: Evaluation of expression and function of the H+/myo-inositol transporter HMIT.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of sleep habits and insomnia.
    EBI GWAS Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    EBI GWAS Catalog
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • MGC48624

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables myo-inositol transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myo-inositol:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables myo-inositol:proton symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables myo-inositol:proton symporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protease binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in myo-inositol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myo-inositol transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in myo-inositol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myo-inositol transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of amyloid-beta formation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in astrocyte end-foot ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell periphery ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    NOT located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    NOT located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in organelle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    NOT located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    proton myo-inositol cotransporter
    Names
    H(+)-myo-inositol symporter
    h(+)-myo-inositol cotransporter
    proton (H+) myo-inositol symporter
    solute carrier family 2 (facilitated glucose transporter), member 13

    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_052885.4 → NP_443117.3  proton myo-inositol cotransporter

      See identical proteins and their annotated locations for NP_443117.3

      Status: VALIDATED

      Source sequence(s)
      AC079630, AC121335, AJ315644, AK026495, BC117119
      Consensus CDS
      CCDS8736.2
      UniProtKB/Swiss-Prot
      Q17S07, Q96QE2
      Related
      ENSP00000280871.4, ENST00000280871.9
      Conserved Domains (2) summary
      cd06174
      Location:86 → 591
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam00083
      Location:84 → 609
      Sugar_tr; Sugar (and other) transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      39755025..40106081 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537847.3 → XP_011536149.1  proton myo-inositol cotransporter isoform X1

      Conserved Domains (2) summary
      cd06174
      Location:86 → 549
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam00083
      Location:84 → 567
      Sugar_tr; Sugar (and other) transporter

    2. XM_017018765.2 → XP_016874254.1  proton myo-inositol cotransporter isoform X3

    3. XM_017018764.2 → XP_016874253.1  proton myo-inositol cotransporter isoform X3

    4. XM_017018766.2 → XP_016874255.1  proton myo-inositol cotransporter isoform X6

    5. XM_047428235.1 → XP_047284191.1  proton myo-inositol cotransporter isoform X2

    6. XM_011537850.4 → XP_011536152.1  proton myo-inositol cotransporter isoform X5

      Conserved Domains (2) summary
      cd06174
      Location:86 → 418
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      COG0477
      Location:89 → 416
      ProP; MFS family permease [Carbohydrate transport and metabolism, Amino acid transport and metabolism, Inorganic ion transport and metabolism, General function prediction only]

    7. XM_011537849.3 → XP_011536151.1  proton myo-inositol cotransporter isoform X4

      Conserved Domains (2) summary
      cd06174
      Location:86 → 418
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      COG0477
      Location:89 → 416
      ProP; MFS family permease [Carbohydrate transport and metabolism, Amino acid transport and metabolism, Inorganic ion transport and metabolism, General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      39704874..40055977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370980.1 → XP_054226955.1  proton myo-inositol cotransporter isoform X1

    2. XM_054370983.1 → XP_054226958.1  proton myo-inositol cotransporter isoform X3

    3. XM_054370982.1 → XP_054226957.1  proton myo-inositol cotransporter isoform X3

    4. XM_054370986.1 → XP_054226961.1  proton myo-inositol cotransporter isoform X6

    5. XM_054370981.1 → XP_054226956.1  proton myo-inositol cotransporter isoform X2

    6. XM_054370985.1 → XP_054226960.1  proton myo-inositol cotransporter isoform X5

    7. XM_054370984.1 → XP_054226959.1  proton myo-inositol cotransporter isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QE2.3 GenPept UniProtKB/Swiss-Prot:Q96QE2

    Gene LinkOut

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

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