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Reviewed January 2009

What is the official name of the WHSC1 gene?

The official name of this gene is “Wolf-Hirschhorn syndrome candidate 1.”

WHSC1 is the gene's official symbol. The WHSC1 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 WHSC1 gene?

The WHSC1 gene (also known as MMSET) provides instructions for making at least three very similar proteins known as MMSET I, MMSET II, and RE-IIBP. These proteins are active both before and after birth in many of the body's cells and tissues. They appear to play an important role in normal development.

At least two of the proteins produced from the WHSC1 gene, MMSET II and RE-IIBP, likely help regulate the activity of other genes. Studies suggest that these proteins function as histone methyltransferases, which are enzymes that modify DNA-associated proteins called histones. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off (suppress) the activity of certain genes. Scientists are working to identify the genes targeted by the MMSET II and RE-IIBP proteins.

Does the WHSC1 gene share characteristics with other genes?

The WHSC1 gene belongs to a family of genes called PHF (PHD-type zinc fingers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the WHSC1 gene related to health conditions?

cancers - associated with the WHSC1 gene

A chromosomal rearrangement (translocation) involving the WHSC1 gene has been associated with multiple myeloma, a cancer that starts in cells of the bone marrow. This rearrangement is found in 15 percent to 20 percent of all multiple myelomas. The translocation, which is written as t(4;14)(p16;q32), abnormally fuses the WHSC1 gene on chromosome 4 with part of another gene on chromosome 14. The fusion of these genes overactivates the WHSC1 gene, which appears to promote the uncontrolled growth and division of cancer cells.

Wolf-Hirschhorn syndrome - associated with the WHSC1 gene

The WHSC1 gene is located in a region of chromosome 4 that is deleted in people with Wolf-Hirschhorn syndrome. As a result of this deletion, affected individuals are missing one copy of the WHSC1 gene in each cell. A loss of the WHSC1 gene probably disrupts the regulation of several other genes, although these genes have not been identified. Researchers speculate that abnormal gene regulation during development contributes to many of the characteristic features of the disorder, including intellectual disability, growth delay, and a distinctive facial appearance.

Where is the WHSC1 gene located?

Cytogenetic Location: 4p16.3

Molecular Location on chromosome 4: base pairs 1,871,396 to 1,982,207

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

The WHSC1 gene is located on the short (p) arm of chromosome 4 at position 16.3.

The WHSC1 gene is located on the short (p) arm of chromosome 4 at position 16.3.

More precisely, the WHSC1 gene is located from base pair 1,871,396 to base pair 1,982,207 on chromosome 4.

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

Where can I find additional information about WHSC1?

You and your healthcare professional may find the following resources about WHSC1 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 WHSC1 gene or gene products?

  • FLJ23286
  • IL5 promoter REII region-binding protein
  • KIAA1090
  • MGC176638
  • multiple myeloma SET domain protein
  • NSD2
  • Nuclear SET domain-containing protein 2
  • Probable histone-lysine N-methyltransferase NSD2
  • Protein trithorax-5
  • trithorax/ash1-related protein 5
  • TRX5

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 WHSC1?

bone marrow ; cancer ; cell ; chromosome ; deletion ; disability ; DNA ; domain ; gene ; gene regulation ; histone ; lysine ; methyl ; methyltransferase ; molecule ; multiple myeloma ; myeloma ; promoter ; protein ; rearrangement ; syndrome ; translocation

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

See also Understanding Medical Terminology.

References (10 links)


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.

Reviewed: January 2009
Published: February 8, 2016