IGHM - immunoglobulin heavy constant mu Gene

Also Known as MU; VH; AGM1

Species: Homo sapiens

Gene Type: other
Gene ID: 3507

About IGHM

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:105,851,966-105,856,217 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 184 orthologues, 82 paralogues and is associated with 1 phenotype.

Summary

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
contributes to immunoglobulin receptor binding IDA
IDA: Inferred from direct assay
23250751 GOA
contributes to peptidoglycan binding IDA
IDA: Inferred from direct assay
21786026 GOA
contributes to phosphatidylcholine binding IDA
IDA: Inferred from direct assay
21786026 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
36949194 GOA
contributes to single-stranded DNA binding IDA
IDA: Inferred from direct assay
21786026 GOA
Biological Process GO Annotation Evidence References Source
involved in adaptive immune response IDA
IDA: Inferred from direct assay
21786026 GOA
involved in antibacterial humoral response IDA
IDA: Inferred from direct assay
21786026 GOA
involved in defense response to Gram-negative bacterium IDA
IDA: Inferred from direct assay
22427638 GOA
involved in innate immune response IDA
IDA: Inferred from direct assay
21786026 GOA
Cellular Component GO Annotation Evidence References Source
part of IgM B cell receptor complex IDA
IDA: Inferred from direct assay
35981043 GOA
located in cell surface IDA
IDA: Inferred from direct assay
22427638 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
25645918 GOA
part of hexameric IgM immunoglobulin complex IDA
IDA: Inferred from direct assay
21786026 GOA
part of pentameric IgM immunoglobulin complex IDA
IDA: Inferred from direct assay
21786026 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IGHM Protein Structure

C1-set

C1-set: Immunoglobulin C1-set domain (20 - 96)

C1-set

C1-set: Immunoglobulin C1-set domain (128 - 205)

C1-set

C1-set: Immunoglobulin C1-set domain (237 - 314)

C1-set

C1-set: Immunoglobulin C1-set domain (337 - 423)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 453 a.a.

IGHM Antibodies

Cat. No. Product Name Application Reactivity
HY-P81317 Human IgM Antibody (YA1062) ELISA, IHC-P Human
HY-P81317A Human IgM Antibody (YA1062)(PBS only) ELISA, IHC-P Human
HY-P83913 Human IgM Antibody (YA3610) WB, IHC-P, FC, ELISA Human
HY-P83913A Human IgM Antibody (YA3610)(PBS only) WB, IHC-P, FC, ELISA Human

Related Diseases

Diseases Alias
Agammaglobulinemia 1, Autosomal Recessive

  • Agammaglobulinemia 1

  • AGM1

  • Autosomal Recessive Agammaglobulinemia 1

  • Agammaglobulinemia, Autosomal Recessive, Due To Ighm Defect

  • Agammaglobulinemia Autosomal Recessive Due To Ighm Defect

  • Agammaglobulinemia, Type 1, Autosomal Recessive )
Agammaglobulinemia, Non-Bruton Type

  • Autosomal Agammaglobulinemia
Agammaglobulinemia

  • Hypogammaglobulinemia

  • Ighm

  • Mu Heavy Chain Deficiency

  • Mu-Heavy Chain Disease

  • Mu-Hcd

  • Mu-Chain Disease
Primary Central Nervous System Lymphoma

  • Pcnsl

  • Primary Cns Lymphoma

  • Primary Brain Lymphoma

  • Primary Lymphoma, Cns

  • Primary Cerebral Lymphoma
Cryoglobulinemia, Familial Mixed

  • Cryoglobulinemic Vasculitis

  • Essential Mixed Cryoglobulinemia

  • Mixed Cryoglobulinemia

  • Essential Cryoglobulinemia

  • Primary Cryoglobulinemia

  • Meltzer Syndrome

  • Familial Mixed Cryoglobulinemia
Leukemia, Chronic Lymphocytic 2

  • Leukemia, Chronic Lymphocytic, Susceptibility To, 2

  • B-Cell Malignancy, Low-Grade

  • Clls2

  • Disrupted In B-Cell Malignancy

  • Dbm

  • Leukemia, Chronic Lymphocytic, B-Cell

  • Bcll

  • Lymphocytic Leukemia Chronic B-Cell

  • Chronic Lymphocytic Leukemia

  • Chronic Lymph Leukaemia

  • Chronic Lymphatic Leukaemia

  • Chronic Lymphocytic Leukaemia

  • Chronic Lymphoid Leukaemia

  • Lymphoplasmacytic Leukaemia
Follicular Lymphoma

  • Lymphoma, Follicular

  • Lymphoma Follicular

  • Brill-Symmers' Disease

  • Large Cell Follicular Non-Hodgkin Lymphoma

  • Diffuse Follicle Centre Lymphoma

  • Diffuse Follicular Lymphoma Nos

  • Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

  • Follicular Large Cell Cleaved Or Noncleaved Lymphoma

  • Large Cell Follicular Noncleaved Lymphoma

  • Follicular Lymphoma With Or Without Diffuse Areas

  • Histiocytic Follicular Lymphoma

  • Histiocytic Nodular Lymphoma

  • Histiocytic Nodular Malignant Lymphoma

  • Large Cell Follicular Lymphoma

  • Large Cell Noncleaved Follicular Lymphoma

  • Large Cell Noncleaved Follicular Malignant Lymphoma

  • Nodular Reticulum Cell Sarcoma

  • Noncleaved Follicular Lymphoma
Schnitzler Syndrome

  • Chronic Urticaria With Gammopathy

  • Chronic Urticaria With Macroglobulinemia

  • Chronic Urticaria With Gammapathy
Agammaglobulinemia, X-Linked

  • X-Linked Agammaglobulinemia

  • XLA

  • Bruton Type Agammaglobulinemia

  • Bruton'S Agammaglobulinemia

  • Bruton-Type Agammaglobulinemia

  • Agmx1

  • Imd1

  • Agammaglobulinemia, X-Linked 1

  • Btk-Deficiency

  • Agammaglobulinemia

  • Hypogammaglobulinemia

  • Agammaglobulinemia, X-Linked, Type 1

  • Immunodeficiency 1

  • Bruton Agammaglobulinemia Tyrosine Kinase Deficiency

  • Bruton Disease

  • Bruton'S Agammaglobulinaemia

  • Bruton'S Sex-Linked Agammaglobulinemia

  • Bruton'S Type Agammaglobulinemia

  • Btk Deficiency

  • Agammaglobulinemia, Btk

  • Agammaglobulinemia, Bruton Tyrosine Kinase

  • Congenital Agammaglobulinemia

  • Immunodeficiency Type 1

  • X-Linked Agammaglobulinemia Type 1
Leukemia, Chronic Lymphocytic

  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell
Waldenstroem'S Macroglobulinemia

  • Waldenstrom Macroglobulinemia

  • Macroglobulinemia Of Waldenstrom

  • Waldenström Macroglobulinemia

  • Lymphoplasmacytic Lymphoma With Igm Gammopathy

  • Lymphoplasmacytic Lymphoma

  • Waldenstrom'S Macroglobulinaemia

  • Waldenstrom'S Syndrome

  • Waldenstrom'S Macroglobulinemia

  • Wm

  • Waldenström'S Macroglobulinemia

  • Malignant Lymphoma - Lymphoplasmacytic
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-174536 Human TFE3 mRNA / Unkown
HY-RS16457 IGHM Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22206 Ighm Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28728 Gcnt4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus IGHM MGD MGI:96448