Gene Gene information from NCBI Gene database.
Entrez ID 114134
Gene name Solute carrier family 2 member 13
Gene symbol SLC2A13
Synonyms (NCBI Gene)
HMIT
Chromosome 12
Chromosome location 12q12
miRNA miRNA information provided by mirtarbase database.
217
miRTarBase ID miRNA Experiments Reference
MIRT019106 hsa-miR-335-5p Microarray 18185580
MIRT496282 hsa-miR-1910-3p PAR-CLIP 22291592
MIRT496281 hsa-miR-6511a-5p PAR-CLIP 22291592
MIRT496280 hsa-miR-6808-5p PAR-CLIP 22291592
MIRT496279 hsa-miR-6893-5p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IEA
GO:0002020 Function Protease binding IPI 26094765
GO:0002020 Function Protease binding ISS 26094765
GO:0005365 Function Myo-inositol transmembrane transporter activity IEA
GO:0005365 Function Myo-inositol transmembrane transporter activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611036 15956 ENSG00000151229
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QE2
Protein name Proton myo-inositol cotransporter (H(+)-myo-inositol cotransporter) (Hmit) (H(+)-myo-inositol symporter) (Solute carrier family 2 member 13)
Protein function H(+)-myo-inositol cotransporter (PubMed:11500374). Can also transport related stereoisomers (PubMed:11500374).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 84 425 Sugar (and other) transporter Family
PF00083 Sugar_tr 497 609 Sugar (and other) transporter Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in the brain. {ECO:0000269|PubMed:11500374}.
Sequence
Sequence length 648
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Inositol transporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN URINARY SYSTEM NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 21861841
★☆☆☆☆
Found in Text Mining only
Leprosy Leprosy GWASCAT_DG 25642632
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute Myeloid leukemia Pubtator 31918632 Associate
★☆☆☆☆
Found in Text Mining only
Linear atrophy Atrophy BEFREE 29551423
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 21861841
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 21861841
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 30972876 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease GWASDB_DG 19915576, 22438815, 22451204, 24842889
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease GWASCAT_DG 19915576, 22451204, 28011712
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease Pubtator 22763023, 33341150 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations