SNAI2

Reviewed February 2013

What is the official name of the SNAI2 gene?

The official name of this gene is “snail family zinc finger 2.”

SNAI2 is the gene's official symbol. The SNAI2 gene is also known by other names, listed below.

What is the normal function of the SNAI2 gene?

The SNAI2 gene (often called SLUG) provides the instructions for making a protein called snail 2. Snail 2 belongs to the snail protein family, which plays a role in the formation of tissues during embryonic development. The snail 2 protein is also found in most adult tissues, so it probably helps maintain the normal function of cells after birth. To carry out these roles, snail 2 attaches to critical regions of DNA and helps control the activity of particular genes. On the basis of this action, the protein is called a transcription factor.

Research indicates that the snail 2 protein is required during embryonic growth for the development of cells called neural crest cells. Neural crest cells migrate from the developing spinal cord to specific regions in the embryo and give rise to many tissues and cell types such as limb muscles, bones in the face and skull (craniofacial bones), some nerve tissue, and pigment-producing cells called melanocytes. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found in certain regions of the brain and inner ear. The snail 2 protein probably plays a role in the formation and survival of melanocytes.

How are changes in the SNAI2 gene related to health conditions?

piebaldism - caused by mutations in the SNAI2 gene: One copy of the SNAI2 gene is deleted in some cases of piebaldism, a condition characterized by white patches of skin and hair caused by a lack of pigmented cells (melanocytes). Loss of one copy of the gene probably reduces the production of the snail 2 protein. Shortage of the snail 2 protein may disrupt the development of melanocytes in certain areas of the skin and hair, causing the patchy loss of pigment.
Waardenburg syndrome - caused by mutations in the SNAI2 gene: In some cases of Waardenburg syndrome, type II, both copies of the SNAI2 gene are missing. With no copies of the gene, the snail 2 protein is absent. Lack of snail 2 may disrupt the development of melanocytes in certain areas of the skin, hair, eyes, and inner ear, leading to hearing loss and the patchy loss of pigmentation that are characteristic features of Waardenburg syndrome, type II.

Where is the SNAI2 gene located?

Cytogenetic Location: 8q11

Molecular Location on chromosome 8: base pairs 49,830,235 to 49,833,998

The SNAI2 gene is located on the long (q) arm of chromosome 8 at position 11.

More precisely, the SNAI2 gene is located from base pair 49,830,235 to base pair 49,833,998 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SNAI2?

You and your healthcare professional may find the following resources about SNAI2 helpful.

Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SNAI2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6591%5Bgeneid%5D)

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

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((SNAI2%5BTIAB%5D)%20OR%20(snail%20homolog%202%5BTIAB%5D))%20OR%20(snail%202%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/602150)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SNAI2.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6591)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6591)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11094)

What other names do people use for the SNAI2 gene or gene products?

neural crest transcription factor SLUG
SLUG
SLUGH1
slug homolog, zinc finger protein (chicken)
SLUG_HUMAN
SNAIL2
snail 2
snail homolog 2 (Drosophila)
WS2D

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SNAI2?

cell ; craniofacial ; DNA ; embryo ; embryonic ; gene ; melanin ; melanocytes ; neural crest ; pigment ; pigmentation ; protein ; syndrome ; tissue ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW. Human SLUG gene organization, expression, and chromosome map location on 8q. Genomics. 1998 Aug 1;51(3):468-71. (http://www.ncbi.nlm.nih.gov/pubmed/9721220?dopt=Abstract)
Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x. Epub 2009 Jun 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19555431?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6591)
Hemavathy K, Guru SC, Harris J, Chen JD, Ip YT. Human Slug is a repressor that localizes to sites of active transcription. Mol Cell Biol. 2000 Jul;20(14):5087-95. (http://www.ncbi.nlm.nih.gov/pubmed/10866665?dopt=Abstract)
López V, Jordá E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb 15;17(2):13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21382296?dopt=Abstract)
OMIM: SNAIL, DROSOPHILA, HOMOLOG OF, 2 (http://omim.org/entry/602150)
Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sánchez-García I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32. (http://www.ncbi.nlm.nih.gov/pubmed/12955764?dopt=Abstract)
Sánchez-Martín M, Rodríguez-García A, Pérez-Losada J, Sagrera A, Read AP, Sánchez-García I. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet. 2002 Dec 1;11(25):3231-6. (http://www.ncbi.nlm.nih.gov/pubmed/12444107?dopt=Abstract)

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.