IGHM (immunoglobulin heavy constant mu)

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Gene Gene information from NCBI Gene database.
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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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34 Show/Hide all (34)
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
147020 5541 ENSG00000211899
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 331 → 420 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 9 → 94 Immunoglobulin C1-set domain Domain
Sequence 
GSASAPTLFPLVSCENSPSDTSSVAVGCLAQDFLPDSITFSWKYKNNSDISSTRGFPSVL
RGGKYAATSQVLLPSKDVMQGTDEHVVCKVQHPNGNKEKNVPLPVIAELPPKVSVFVPPR
DGFFGNPRKSKLICQATGFSPRQIQVSWLREGKQVGSGVTTDQVQAEAKESGPTTYKVTS
TLTIKESDWLGQSMFTCRVDHRGLTFQQNASSMCVPDQDTAIRVFAIPPSFASIFLTKST
KLTCLVTDLTTYDSVTISWTRQNGEAVKTHTNISESHPNATFSAVGEASICEDDWNSGER
FTCTVTHTDLPSPLKQTISRPKGVALHRPDVYLLPPAREQLNLRESATITCLVTGFSPAD
VFVQWMQRGQPLSPEKYVTSAPMPEPQAPGRYFAHSILTVSEEEWNTGETYTCVVAHEAL
PNRVTERTVDKSTGKPTLYNVSLVMSDTAGTCY
Sequence length 453
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive agammaglobulinemia 1 Likely pathogenic; Pathogenic rs2142904095, rs267606871, rs376256147, rs782530227, rs281865422, rs2142904392 RCV001824248
RCV000144362
RCV000015933
RCV000015935
RCV000015936
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (47)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG 12370281
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Agammaglobulinemia GENOMICS_ENGLAND_DG 12370281
★★★★★
★☆☆☆☆
Found in Text Mining only
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Agammaglobulinemia CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia, non-Bruton type Agammaglobulinemia ORPHANET_DG 8890099
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 16778393 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 11905841 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal agammaglobulinemia Agammaglobulinemia Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for IGHM.

No additional diseases found yet through genes similar to IGHM.