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SLC2A2

SLC2A2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SLC2A2 gene?

The official name of this gene is “solute carrier family 2 (facilitated glucose transporter), member 2.”

SLC2A2 is the gene's official symbol. The SLC2A2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SLC2A2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

From UniProt (GTR2_HUMAN)This link leads to a site outside Genetics Home Reference.:

Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney.

How are changes in the SLC2A2 gene related to health conditions?

UniProt (GTR2_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the SLC2A2 gene's known or predicted involvement in human disease.

Fanconi-Bickel syndrome (FBS): Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC2A2 gene.
  • Diabetes mellitus type 2
  • Fanconi-Bickel syndrome
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the SLC2A2 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC2A2 gene located?

Cytogenetic Location: 3q26.1-q26.2

Molecular Location on chromosome 3: base pairs 170,995,365 to 171,026,979

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The SLC2A2 gene is located on the long (q) arm of chromosome 3 between positions 26.1 and 26.2.

The SLC2A2 gene is located on the long (q) arm of chromosome 3 between positions 26.1 and 26.2.

More precisely, the SLC2A2 gene is located from base pair 170,995,365 to base pair 171,026,979 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SLC2A2?

You and your healthcare professional may find the following resources about SLC2A2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC2A2 gene or gene products?

  • GLUT2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC2A2?

alternative splicing ; autosomal ; autosomal recessive ; cell ; diabetes ; diabetes mellitus ; epithelium ; galactose ; gene ; glucose ; glycogen ; inherited ; intestine ; kidney ; Na ; plasma ; plasma membrane ; protein ; proximal ; recessive ; renal ; splicing ; susceptibility ; syndrome ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: February 8, 2016