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EPB42

EPB42

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

What is the official name of the EPB42 gene?

The official name of this gene is “erythrocyte membrane protein band 4.2.”

EPB42 is the gene's official symbol. The EPB42 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 EPB42 gene?

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

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.

How are changes in the EPB42 gene related to health conditions?

Genetics Home Reference provides information about hereditary spherocytosis, which is associated with changes in the EPB42 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the EPB42 gene's known or predicted involvement in human disease.

Spherocytosis 5 (SPH5): Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. 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 EPB42 gene.
  • Spherocytosis type 5
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 EPB42 gene and its association with health conditions.
OMIM
Number
Title

Where is the EPB42 gene located?

Cytogenetic Location: 15q15-q21

Molecular Location on chromosome 15: base pairs 43,197,226 to 43,225,860

The EPB42 gene is located on the long (q) arm of chromosome 15 between positions 15 and 21.

The EPB42 gene is located on the long (q) arm of chromosome 15 between positions 15 and 21.

More precisely, the EPB42 gene is located from base pair 43,197,226 to base pair 43,225,860 on chromosome 15.

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

Where can I find additional information about EPB42?

You and your healthcare professional may find the following resources about EPB42 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 EPB42 gene or gene products?

  • PA
  • SPH5

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 EPB42?

anemia ; ATP ; chronic ; erythrocyte ; gene ; hemolytic anemia ; hereditary ; isoforms ; protein ; recessive ; 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: May 4, 2015