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IGH Gene(Protein Coding)

Immunoglobulin Heavy Locus

GCID:
GC14M105726
GIFtS:
20
Genes Participants
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Aliases for IGH Gene

Aliases for IGH Gene

  • Immunoglobulin Heavy Locus 2 3
  • Immunoglobulin Heavy Polypeptide, Joining Region 3
  • Immunglobulin Heavy Chain Variable Region 3
  • Immunoglobulin Heavy Diversity Cluster 3
  • Immunoglobulin Heavy Variable Cluster 3
  • D (Diversity) Region Of Heavy Chains 3
  • Immunoglobulin Heavy Diversity Group 3
  • Immunoglobulin Heavy Diversity Locus 3
  • Immunoglobulin Heavy Joining Cluster 3
  • Immunoglobulin Heavy Variable Group 3
  • J (Joining) Region Of Heavy Chains 3
  • Immunoglobulin Heavy Joining Group 3
  • IGH.1@ 3
  • IGHDY1 3
  • IGHD@ 3
  • IGHJ@ 3
  • IGHV@ 3
  • IGD1 3
  • IGHJ 3
  • IGHV 3
  • IGH@ 3

External Ids for IGH Gene

Previous HGNC Symbols for IGH Gene

  • IGHDY1
  • IGH@

Previous GeneCards Identifiers for IGH Gene

  • GC14M106034
  • GC14M105584
  • GC14M105611
  • GC14M105629
  • GC14M105638
  • GC14M105660
  • GC14M105674
  • GC14M105680
  • GC14M105705

Summaries for IGH Gene

Entrez Gene Summary for IGH Gene

  • 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]

GeneCards Summary for IGH Gene

IGH (Immunoglobulin Heavy Locus) is a Protein Coding gene. Diseases associated with IGH include Follicular Lymphoma 1 and Mantle Cell Lymphoma. Among its related pathways are Immune response Fc epsilon RI pathway and Development IGF-1 receptor signaling.

Gene Wiki entry for IGH Gene

Additional gene information for IGH Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGH Gene

Genomics for IGH Gene

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  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for IGH Gene

Promoters and enhancers for IGH Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH14J106879 Enhancer 0.7 ENCODE 650.7 +0.5 455 0.2 ELF3 CTCF PKNOX1 ZIC2 RAD21 GLIS2 ZNF143 PRDM10 ZNF444 KLF13 IGH IGHVIII-82 IGHV2-70D IGHV7-81
GH14J106843 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 0.3 +34.3 34316 4.3 HDGF PKNOX1 ATF1 FOXA2 SMAD1 ARID4B FEZF1 DMAP1 ZNF48 GLIS2 IGHV2-70D MIR5195 IGHVIII-76-1 IGH
GH14J106872 Enhancer 1.1 Ensembl ENCODE 0.4 +6.7 6653 1.6 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 ZNF48 GLIS2 ZNF143 FOS RUNX3 IGHV4-80 IGHV7-81 IGHV2-70D IGH
GH14J106875 Enhancer 0.5 ENCODE 0.7 +4.1 4136 0.2 CTCF ZNF654 TRIM22 RAD21 IGHV7-81 IGHV2-70D IGH IGHVIII-82
GH14J106848 Enhancer 1 Ensembl ENCODE 0.3 +31.1 31111 1.1 CTCF PKNOX1 TFAP4 SAP130 SIN3A FEZF1 ZIC2 RAD21 EED ZSCAN5C MIR5195 IGHVIII-76-1 IGH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGH on UCSC Golden Path with GeneCards custom track

Genomic Locations for IGH Gene

Genomic Locations for IGH Gene
chr14:105,566,277-106,879,844
(GRCh38/hg38)
Size:
1,313,568 bases
Orientation:
Minus strand
chr14:106,032,614-107,288,051
(GRCh37/hg19)
Size:
1,255,438 bases
Orientation:
Minus strand

Genomic View for IGH Gene

Genes around IGH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IGH Gene

Proteins for IGH Gene

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  1. Antibody
  2. Protein
  3. Assay

  • Protein details for IGH Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A2MZT1-A2MZT1_HUMAN
    Recommended name:
    Immunglobulin heavy chain
    Protein Accession:
    A2MZT1

    Protein attributes for IGH Gene

    Size:
    8 amino acids
    Molecular mass:
    943 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IGH Gene

Post-translational modifications for IGH Gene

No Post-translational modifications

No data available for DME Specific Peptides for IGH Gene

Domains & Families for IGH Gene

Gene Families for IGH Gene

HGNC:

Protein Domains for IGH Gene

ProtoNet:

Suggested Antigen Peptide Sequences for IGH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IGH: view

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

Function for IGH Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for IGH Gene

Human Phenotype Ontology for IGH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization 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

Pathways & Interactions for IGH Gene

genes like me logo Genes that share pathways with IGH: view

Interacting Proteins for IGH Gene

Gene Ontology (GO) - Biological Process for IGH Gene

None

No data available for SIGNOR curated interactions for IGH Gene

Drugs & Compounds for IGH Gene

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  1. Drug

(4) Additional Compounds for IGH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IGH: view

Transcripts for IGH Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IGH Gene

(349) Additional mRNA sequences :

Unigene Clusters for IGH Gene

Immunoglobulin heavy locus:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IGH Gene

No ASD Table

Relevant External Links for IGH Gene

GeneLoc Exon Structure for
IGH
ECgene alternative splicing isoforms for
IGH

Expression for IGH Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGH Gene

mRNA expression in normal human tissues for IGH Gene
mRNA expression by BioGPS for IGH Gene

NURSA nuclear receptor signaling pathways regulating expression of IGH Gene:

IGH

SOURCE GeneReport for Unigene cluster for IGH Gene:

Hs.699841
genes like me logo Genes that share expression patterns with IGH: view

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

Orthologs for IGH Gene

No data available for Orthologs and Evolution for IGH Gene

Paralogs for IGH Gene

No data available for Paralogs for IGH Gene

Variants for IGH Gene

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  1. SNP Genotyping and Copy Number Assay

Additional Variant Information for IGH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGH Gene

Disorders for IGH Gene

MalaCards: The human disease database

(12) MalaCards diseases for IGH Gene - From: Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
follicular lymphoma 1
  • follicular lymphoma, susceptibility to, 1
mantle cell lymphoma
  • lymphoma, mantle cell
lymphoma, mucosa-associated lymphoid type
  • malt lymphoma
leukemia, acute lymphoblastic 3
  • leukemia, acute lymphoblastic, susceptibility to, 3
follicular lymphoma
  • lymphoma, follicular
- elite association - COSMIC cancer census association via MalaCards
Search IGH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IGH

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IGH: view

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

Publications for IGH Gene

  1. Molecular cytogenetic analysis of chromosomal breakpoints in the IGH, MYC, BCL6, and MALT1 gene loci in primary cutaneous B-cell lymphomas. (PMID: 15191563) Hallermann C … Neumann C (The Journal of investigative dermatology 2004) 3 22 58
  2. Allelic frequencies of the hs1.2 enhancer within the immunoglobulin heavy chain region in Dayton, Ohio patients screened for celiac disease with duodenal biopsy. (PMID: 28473300) Liu J … Sulentic CEW (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2017) 3 58
  3. Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia. (PMID: 28640838) Kosmidis P … Fend F (PloS one 2017) 3 58
  4. A new risk variant for multiple sclerosis at the immunoglobulin heavy chain locus associates with intrathecal IgG, IgM index and oligoclonal bands. (PMID: 25392328) Delgado-García M … Lucas M (Multiple sclerosis (Houndmills, Basingstoke, England) 2015) 3 58
  5. Cyclin D1-positive diffuse large B-cell lymphoma with IGH-CCND1 translocation and BCL6 rearrangement: a report of two cases. (PMID: 25596256) Al-Kawaaz M … Tam W (American journal of clinical pathology 2015) 3 58

Products for IGH Gene

Sources for IGH Gene

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