Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	3507
Gene name	Immunoglobulin heavy constant mu
Gene symbol	IGHM
Synonyms (NCBI Gene)	AGM1MUVH
Chromosome	14
Chromosome location	14q32.33
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 th

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IDA	21786026
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	NAS	20176268
GO:0002331	Process	Pre-B cell allelic exclusion	ISS
GO:0002376	Process	Immune system process	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	21786026
GO:0003823	Function	Antigen binding	TAS	6425189
GO:0005515	Function	Protein binding	IPI	36949194
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	NAS	20176268
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	20176268
GO:0005886	Component	Plasma membrane	TAS
GO:0006952	Process	Defense response	IEA
GO:0006955	Process	Immune response	IEA
GO:0009986	Component	Cell surface	IDA	22427638
GO:0016020	Component	Membrane	IEA
GO:0019731	Process	Antibacterial humoral response	IDA	21786026
GO:0019814	Component	Immunoglobulin complex	IEA
GO:0031210	Function	Phosphatidylcholine binding	IDA	21786026
GO:0034987	Function	Immunoglobulin receptor binding	IDA	23250751
GO:0042834	Function	Peptidoglycan binding	IDA	21786026
GO:0045087	Process	Innate immune response	IDA	21786026
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	22427638
GO:0050853	Process	B cell receptor signaling pathway	NAS	20176268
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071753	Component	IgM immunoglobulin complex	NAS	20176268
GO:0071755	Component	IgM B cell receptor complex	IDA	35981043, 36949194
GO:0071756	Component	Pentameric IgM immunoglobulin complex	IDA	21786026, 23250751, 24145934, 32029689, 36949194, 37095205
GO:0071757	Component	Hexameric IgM immunoglobulin complex	IDA	21786026
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
147020	5541	ENSG00000211899

P01871

Protein name

Immunoglobulin heavy constant mu (Ig mu chain C region) (Ig mu chain C region BOT) (Ig mu chain C region GAL) (Ig mu chain C region OU)

Protein function

Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins s

PDB

1HEZ , 2AGJ , 2RCJ , 6KXS , 7K0C , 7QDO , 7WSP , 7XQ8 , 7XT6 , 7Y09 , 7Y0H , 7Y0J , 7YG2 , 7YSG , 7YTC , 7YTD , 8ADY , 8ADZ , 8AE0 , 8AE2 , 8AE3 , 8BPF , 8BPG , 8GZN , 8R83 , 8R84 , 8WYR , 8WYS , 9ARV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07654	C1-set	9 → 94	Immunoglobulin C1-set domain	Domain
PF07654	C1-set	113 → 204	Immunoglobulin C1-set domain	Domain
PF07654	C1-set	224 → 310	Immunoglobulin C1-set domain	Domain
PF07654	C1-set	331 → 420	Immunoglobulin C1-set domain	Domain

Sequence

GSASAPTLFPLVSCENSPSDTSSVAVGCLAQDFLPDSITFSWKYKNNSDISSTRGFPSVL
RGGKYAATSQVLLPSKDVMQGTDEHVVCKVQHPNGNKEKNVPLPVIAELPPKVSVFVPPR
DGFFGNPRKSKLICQATGFSPRQIQVSWLREGKQVGSGVTTDQVQAEAKESGPTTYKVTS
TLTIKESDWLGQSMFTCRVDHRGLTFQQNASSMCVPDQDTAIRVFAIPPSFASIFLTKST
KLTCLVTDLTTYDSVTISWTRQNGEAVKTHTNISESHPNATFSAVGEASICEDDWNSGER
FTCTVTHTDLPSPLKQTISRPKGVALHRPDVYLLPPAREQLNLRESATITCLVTGFSPAD
VFVQWMQRGQPLSPEKYVTSAPMPEPQAPGRYFAHSILTVSEEEWNTGETYTCVVAHEAL
PNRVTERTVDKSTGKPTLYNVSLVMSDTAGTCY

Sequence length

453

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive agammaglobulinemia 1	Likely pathogenic; Pathogenic	rs2142904095, rs267606871, rs376256147, rs782530227, rs281865422, rs2142904392	RCV001824248 RCV000144362 RCV000015933 RCV000015935 RCV000015936 RCV000490540

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	33801801
Agammaglobulinemia non Bruton type	Associate	21039741
Alopecia Areata	Associate	20546884
Arthritis Rheumatoid	Associate	16778393
Autoimmune Diseases	Associate	11905841
Breast Neoplasms	Associate	29899747, 30872752, 39195217, 39794693
Carcinoma Merkel Cell	Associate	37146093
Chronic Traumatic Encephalopathy	Associate	34172091
Diabetes Mellitus Type 1	Associate	28534223
Endometriosis	Associate	34409913
Idiopathic Pulmonary Fibrosis	Associate	22761659
Immunologic Deficiency Syndromes	Associate	18252213
Leukemic Infiltration	Associate	39742285
Liver Failure	Associate	35726350
Lupus Erythematosus Systemic	Associate	11905841
Lymphoma Follicular	Associate	6239721
Pain	Associate	25358868
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	27611867
Rhabdomyosarcoma Alveolar	Associate	24551291
Rhabdomyosarcoma Embryonal	Associate	24551291
Triple Negative Breast Neoplasms	Associate	29899747

IGHM (immunoglobulin heavy constant mu)