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The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
CD79A (CD79a Molecule) is a Protein Coding gene. Diseases associated with CD79A include Agammaglobulinemia 3, Autosomal Recessive and Agammaglobulinemia, Non-Bruton Type. Among its related pathways are B cell receptor signaling pathway (KEGG) and Antigen activates B Cell Receptor (BCR) leading to generation of second messengers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is CD79B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0042802 | identical protein binding | IDA | 14967045 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005771 | multivesicular body | ISS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009897 | external side of plasma membrane | ISS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | B cell receptor signaling pathway (KEGG) | ||
2 | Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
B-Cell Receptor Complex
.01
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3 | NF-kappaB Signaling | ||
4 | Primary immunodeficiency | ||
5 | Hematopoietic Stem Cells and Lineage-specific Markers |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | IEA | -- |
GO:0030183 | B cell differentiation | IBA,ISS | -- |
GO:0042100 | B cell proliferation | ISS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | - | |||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD79A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD79A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD79A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100913063 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd79a 30 17 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD79A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485353 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cd79a 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
17706 | Pathogenic: Agammaglobulinemia 3, autosomal recessive | 41,879,533(+) | A/G | SPLICE_ACCEPTOR_VARIANT | |
17707 | Pathogenic: Agammaglobulinemia 3, autosomal recessive | 41,879,290(+) | G/A | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
646670 | Uncertain Significance: Agammaglobulinemia 3, autosomal recessive | 41,879,098(+) | A/G | MISSENSE_VARIANT | |
664433 | Uncertain Significance: Agammaglobulinemia 3, autosomal recessive | 41,877,368(+) | T/A | MISSENSE_VARIANT | |
726287 | Likely Benign: Agammaglobulinemia 3, autosomal recessive | 41,880,684(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
agammaglobulinemia 3, autosomal recessive |
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agammaglobulinemia, non-bruton type |
|
|
iga glomerulonephritis |
|
|
tonsillitis |
|
|
agammaglobulinemia |
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