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Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Dec 2017]
IGH (Immunoglobulin Heavy Locus) is a Protein Coding gene. Diseases associated with IGH include Leukemia, Acute Lymphoblastic 3 and Lymphoma, Mucosa-Associated Lymphoid Type. Among its related pathways are Immune response Fc epsilon RI pathway and Immune response Role of DAP12 receptors in NK cells.
SuperPathway | Contained pathways | ||
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1 | Immune response Fc epsilon RI pathway |
Immune response BCR pathway
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Immune response Fc epsilon RI pathway
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2 | Immune response Role of DAP12 receptors in NK cells |
Immune response CD16 signaling in NK cells
.32
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3 | Immune response Lectin induced complement pathway |
Immune response Classical complement pathway
.55
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4 | Development IGF-1 receptor signaling |
Immune response IL-4 signaling pathway
.38
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5 | Immune response NFAT in immune response |
Immune response NFAT in immune response
.56
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SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
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810941 | Benign: Agammaglobulinemia, non-Bruton type | 105,855,041(-) | A/G | ||
811340 | Likely Benign: Agammaglobulinemia, non-Bruton type | 105,854,900(-) | G/T | ||
rs113762053 | Benign: Agammaglobulinemia, non-Bruton type | 105,855,988(-) | G/C | ||
rs201981439 | Benign: Agammaglobulinemia, non-Bruton type | 105,856,156(-) | C/T | ||
rs267606871 | Pathogenic: Agammaglobulinemia, non-Bruton type | 105,854,468(-) | A/C |
Disorder | Aliases | PubMed IDs |
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leukemia, acute lymphoblastic 3 |
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lymphoma, mucosa-associated lymphoid type |
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mantle cell lymphoma |
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follicular lymphoma 1 |
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orbital lymphoma |
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