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

Reviewed July 2013

What are the immunoglobulin superfamily, I-set domain containing genes?

The I-set 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. Proteins that contain an I-set Ig-like domain are produced from I-set domain containing genes in this family.

Much like the role of antibodies to recognize and bind particular substances, the Ig-like domain allows proteins to interact with other molecules. Many I-set domain containing proteins act as receptors that bind proteins called growth factors, stimulating 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). Still other I-set domain containing proteins play a role in the process by which cells attach to one another (cell adhesion). Because the proteins produced from genes in the I-set 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, I-set domain containing gene family?

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

Genetics Home Reference summarizes the normal function and health implications of these members of the immunoglobulin superfamily, I-set domain containing gene family: FGFR1, FGFR2, FGFR3, FGFR4, FGFRL1, FLT4, L1CAM, MYBPC1, MYBPC3, MYOT, PDGFRA, PDGFRB, ROBO3, ROR2, and TTN.

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

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

  • 8p11 myeloproliferative syndrome
  • achondroplasia
  • Apert syndrome
  • Beare-Stevenson cutis gyrata syndrome
  • bladder cancer
  • Crouzonodermoskeletal syndrome
  • Crouzon syndrome
  • distal arthrogryposis type 1
  • epidermal nevus
  • 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
  • hypochondroplasia
  • Jackson-Weiss syndrome
  • Kallmann syndrome
  • L1 syndrome
  • lacrimo-auriculo-dento-digital syndrome
  • limb-girdle muscular dystrophy
  • Milroy disease
  • Muenke syndrome
  • myofibrillar myopathy
  • osteoglophonic dysplasia
  • PDGFRA-associated chronic eosinophilic leukemia
  • PDGFRB-associated chronic eosinophilic leukemia
  • Pfeiffer syndrome
  • Robinow syndrome
  • SADDAN
  • Salih myopathy
  • thanatophoric dysplasia
  • tibial muscular dystrophy

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

adhesion molecule ; bacteria ; cardiac ; cell ; cell adhesion ; contraction ; domain ; fibroblast ; gene ; growth factor ; immune response ; immunoglobulin ; kinase ; molecule ; muscle cells ; myosin ; protein ; receptor ; 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, I-set domain containing gene family.

  • Interpro: Immunoglobulin I-set (http://www.ebi.ac.uk/interpro/entry/IPR013098)
  • 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)
  • 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)
  • Harpaz Y, Chothia C. Many of the immunoglobulin superfamily domains in cell adhesion molecules and surface receptors belong to a new structural set which is close to that containing variable domains. J Mol Biol. 1994 May 13;238(4):528-39. (http://www.ncbi.nlm.nih.gov/pubmed/8176743?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.

 
Reviewed: July 2013
Published: August 25, 2014