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

Gene ID: 114134, updated on 2-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
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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 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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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
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)

Genotypes

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

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Chemical Information
Molecular Biology Databases
Research Materials
Tools
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