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

Gene Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3507
Gene name Gene Name - the full gene name approved by the HGNC.	Immunoglobulin heavy constant mu
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IGHM
Synonyms (NCBI Gene) Gene synonyms aliases	AGM1, MU, VH
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AGM1
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q32.33
Summary Summary of gene provided in NCBI Entrez Gene.	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(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IDA	21786026
GO:0003697	Function	Single-stranded DNA binding	IDA	21786026
GO:0003823	Function	Antigen binding	IBA	21873635
GO:0003823	Function	Antigen binding	TAS	6425189
GO:0005515	Function	Protein binding	IPI	19214191, 24963139
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005886	Component	Plasma membrane	TAS
GO:0006910	Process	Phagocytosis, recognition	IBA	21873635
GO:0006911	Process	Phagocytosis, engulfment	IBA	21873635
GO:0006958	Process	Complement activation, classical pathway	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009986	Component	Cell surface	IDA	22427638
GO:0016021	Component	Integral component of membrane	IEA
GO:0019731	Process	Antibacterial humoral response	IDA	21786026
GO:0031210	Function	Phosphatidylcholine binding	IDA	21786026
GO:0034987	Function	Immunoglobulin receptor binding	IDA	23250751
GO:0042571	Component	Immunoglobulin complex, circulating	IBA	21873635
GO:0042742	Process	Defense response to bacterium	IBA	21873635
GO:0042834	Function	Peptidoglycan binding	IDA	21786026
GO:0045087	Process	Innate immune response	IBA	21873635
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	IBA	21873635
GO:0050871	Process	Positive regulation of B cell activation	IBA	21873635
GO:0050900	Process	Leukocyte migration	TAS
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071756	Component	Pentameric IgM immunoglobulin complex	IDA	21786026, 23250751, 24145934
GO:0071757	Component	Hexameric IgM immunoglobulin complex	IDA	21786026
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
147020	5541	ENSG00000211899

Protein

UniProt ID

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 (4)

Disease term	Disease name	dbSNP ID	References
Causal
Agammaglobulinemia	Agammaglobulinemia, Agammaglobulinemia, non-Bruton type, AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE, Autosomal agammaglobulinemia	rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392 View all (17 more)	12370281, 8890099
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016 View all (214 more)
Neutropenia	Neutropenia	rs879253882

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Crohn disease	Crohn Disease	ClinVar
Osteomyelitis	Osteomyelitis	ClinVar
Otitis media	Chronic otitis media, Recurrent otitis media	ClinVar

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
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)