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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 nameGene Name - the full gene name approved by the HGNC.
Immunoglobulin heavy constant mu
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
IGHM
SynonymsGene synonyms aliases
AGM1, MU, VH
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
SummarySummary 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
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
Other IDsOther 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
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
Associated diseases
Gene Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
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, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866, rs1554906579, rs1568801716, rs1565638431, rs2095906547, rs2095906404 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, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Neutropenia Neutropenia rs879253882
Unknown
Disease name Disease term dbSNP ID References
Congenital epicanthus Congenital Epicanthus
Conjunctivitis Conjunctivitis
Crohn disease Crohn Disease rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438
High palate Byzanthine arch palate

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