IGHM (immunoglobulin heavy constant mu)

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
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
147020 5541 ENSG00000211899
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Sequence length 453
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Agammaglobulinemia Autosomal recessive agammaglobulinemia 1 rs376256147, rs281865422, rs267606871, rs2142904392 N/A
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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