UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:HMIT
HGNC Symbol:SLC2A13
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 13
HGNC ID:15956
Chromosome:Chr.12(-): 38435090-38785928
Location:12q12
OMIM:611036
OMIM Phenotype:None
Accessions:AJ315644
Nucleotide RefSeq:NM_052885
Protein RefSeq:NP_443117
Entrez:114134
Isoforms:1
Evidence:Substrate In Vitro Evidence: Myo-inositol and related stereoisomers (Xenopus oocytes) Uldry,M., Ibberson,M., Horisberger,J.D., Chatton,J.Y., Riederer,B.M. and Thorens,B. Identification of a mammalian H(+)-myo-inositol symporter expressed predominantly in the brain. EMBO J. 20 (16), 4467-4477 (2001). Tissue Distribution Evidence: A 4.5 kb HMIT transcript was expressed predominantly in the brain, with high expression found in cerebral cortex, hippocampus, hypothalamus, cerebellum and brainstem. HMIT was detected in RNA prepared from primary cultures of neuronal or glial cells. A low level of expression was detected in white, brown and epididymal adipose tissues, and in kidney. (Northern blotting) Uldry,M., Ibberson,M., Horisberger,J.D., Chatton,J.Y., Riederer,B.M. and Thorens,B. Identification of a mammalian H(+)-myo-inositol symporter expressed predominantly in the brain. EMBO J. 20 (16), 4467-4477 (2001).
Tissues:predominantly in the brain; low in white, brown and epididymal adipose tissues, and in kidney
Type:protein coding
Sets:0
PharmGKB ID:PA38066
HPRD ID:15363
Substrates:Myo-inositol and related stereoisomers
Trivial Names:HMIT, MGC48624
Transcripts:NM_052885 [Chr.12(-): 38435090-38785928]

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.