IGHM - immunoglobulin heavy constant mu Gene

Homo sapiens

Also known as MU; VH; AGM1

Gene ID: 3507 | Gene type: other

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	Reference	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	Reference	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	Reference	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

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-P83913	IGHM Antibody (YA3610)	WB, IHC-P, FC, ELISA	Human
HY-P85612	Human IgM Antibody (YA5304)	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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16457	IGHM Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS22206	Ighm Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	IGHM	MGD	MGI:96448

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