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Genetics Home Reference: your guide to understanding genetic conditions
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Immunoglobulin superfamily, immunoglobulin-like domain containing gene family

Reviewed October 2013

What are the immunoglobulin superfamily, immunoglobulin-like domain containing genes?

The immunoglobulin-like domain containing gene family is a subset of the immunoglobulin superfamily. Genes in the immunoglobulin superfamily provide instructions for making proteins that have a certain region called an immunoglobulin-like (Ig-like) domain. The domain is described as Ig-like because it resembles regions found in molecules called antibodies (also known as immunoglobulins). Antibodies are specialized proteins that attach (bind) to foreign invaders, such as bacteria and viruses, as part of the body's immune response.

Antibodies contain a variable (V) region and a constant (C) region. Ig-like domains can resemble either the variable region or the constant region; these domains are described as V-set and C-set, respectively. Some Ig-like domains have characteristics of both the variable and constant regions; these domains are described as I-set, meaning intermediate. Genes that provide instructions for proteins with an Ig-like domain that does not fit into the previous categories are assigned to the immunoglobulin-like domain containing family.

Much like the role of antibodies in recognizing and binding particular substances, the Ig-like domain allows proteins to interact with other molecules. Many Ig-like domain containing proteins act as receptors that bind other proteins referred to as their ligands. This binding stimulates signaling inside the cell that helps the cell respond to its environment. Other proteins with this domain are found in muscle cells; their ability to bind other muscle proteins aid in muscle tensing (contraction). Because the proteins produced from genes in the Ig-like domain containing family have such diverse functions, changes in these genes can cause a variety of disorders that affect different body systems.

Which genes are included in the immunoglobulin superfamily, immunoglobulin-like domain containing gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the immunoglobulin superfamily, immunoglobulin-like domain containing family (http://www.genenames.org/genefamilies/IGD).

Genetics Home Reference summarizes the normal function and health implications of these members of the immunoglobulin superfamily, immunoglobulin-like domain containing gene family: FLT3, FLT4, KIT, LEPR, NTRK1, PDGFRB, ROBO3, TEK, and TTN.

What conditions are related to genes in the immunoglobulin superfamily, immunoglobulin-like domain containing gene family?

Genetics Home Reference includes these conditions related to genes in the immunoglobulin superfamily, immunoglobulin-like domain containing gene family:

  • congenital insensitivity to pain with anhidrosis
  • core binding factor acute myeloid leukemia
  • cytogenetically normal acute myeloid leukemia
  • familial dilated cardiomyopathy
  • familial hypertrophic cardiomyopathy
  • familial idiopathic basal ganglia calcification
  • gastrointestinal stromal tumor
  • hereditary myopathy with early respiratory failure
  • horizontal gaze palsy with progressive scoliosis
  • leptin receptor deficiency
  • limb-girdle muscular dystrophy
  • Milroy disease
  • multiple cutaneous and mucosal venous malformations
  • PDGFRB-associated chronic eosinophilic leukemia
  • piebaldism
  • Salih myopathy
  • tibial muscular dystrophy

What glossary definitions help with understanding the immunoglobulin superfamily, immunoglobulin-like domain containing gene family?

bacteria ; cell ; contraction ; domain ; gene ; growth factor ; immune response ; immunoglobulin ; kinase ; muscle cells ; oncogene ; receptor ; sarcoma ; tyrosine

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

References

These sources were used to develop the Genetics Home Reference summary for the immunoglobulin superfamily, immunoglobulin-like domain containing gene family.

  • Smith DK, Xue H. Sequence profiles of immunoglobulin and immunoglobulin-like domains. J Mol Biol. 1997 Dec 12;274(4):530-45. (http://www.ncbi.nlm.nih.gov/pubmed/9417933?dopt=Abstract)
  • Williams AF, Barclay AN. The immunoglobulin superfamily--domains for cell surface recognition. Annu Rev Immunol. 1988;6:381-405. Review. (http://www.ncbi.nlm.nih.gov/pubmed/3289571?dopt=Abstract)
  • Basic Neurochemistry (6th edition, 1999): The Immunoglobulin Gene Superfamily (http://www.ncbi.nlm.nih.gov/books/NBK28187/)
  • Bork P, Holm L, Sander C. The immunoglobulin fold. Structural classification, sequence patterns and common core. J Mol Biol. 1994 Sep 30;242(4):309-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/7932691?dopt=Abstract)

 

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Reviewed: October 2013
Published: September 15, 2014