IGH Gene (Protein Coding)

• 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.

• HGNC(5477)
• Entrez Gene(3492)
• OMIM(146910)
• OMIM(147010)
• OMIM(147070)
• UniProtKB(A2MZT1)
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• Monarch Initiative
• Search for IGH at DataMed
• Search for IGH at HumanCyc

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGH Gene

No data available for DME Specific Peptides for IGH Gene

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGH Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGH Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for IGH Gene

No data available for SIGNOR curated interactions for IGH Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGH Gene

No data available for Orthologs and Evolution for IGH Gene

No data available for Paralogs for IGH Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGH Gene

No data available for UniProtKB/Swiss-Prot and Genatlas for IGH Gene

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