CD79A (CD79a molecule)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
973
Gene name Gene Name - the full gene name approved by the HGNC.
CD79a molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD79A
Synonyms (NCBI Gene) Gene synonyms aliases
IGA, IGAlpha, MB-1, MB1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs1555843601 G>A,T Pathogenic Intron variant, splice donor variant
rs1568801716 G>A Pathogenic Coding sequence variant, stop gained
rs1600631294 T>G Pathogenic Coding sequence variant, missense variant, intron variant
rs1600631593 A>G Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
miRTarBase ID miRNA Experiments Reference
MIRT017240 hsa-miR-335-5p Microarray 18185580
MIRT876165 hsa-miR-1258 CLIP-seq
MIRT876166 hsa-miR-1303 CLIP-seq
MIRT876167 hsa-miR-3151 CLIP-seq
MIRT876168 hsa-miR-3689d CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
CHD4 Repression 23071088
PAX5 Activation 9545244
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005771 Component Multivesicular body IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
112205 1698 ENSG00000105369
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P11912
Protein name B-cell antigen receptor complex-associated protein alpha chain (Ig-alpha) (MB-1 membrane glycoprotein) (Membrane-bound immunoglobulin-associated protein) (Surface IgM-associated protein) (CD antigen CD79a)
Protein function Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and an
PDB 1CV9 , 7WSO , 7WSP , 7XQ8 , 7XT6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 37 → 118 Immunoglobulin domain Domain
PF02189 ITAM 185 → 204 Immunoreceptor tyrosine-based activation motif Motif
Tissue specificity TISSUE SPECIFICITY: B-cells.
Sequence 
MPGGPGVLQALPATIFLLFLLSAVYLGPGCQALWMHKVPASLMVSLGEDAHFQCPHNSSN
NANVTWWRVLHGNYTWPPEFLGPGEDPNGTLIIQNVNKSHGGIYVCRVQEGNESYQQSCG
TYLRVRQPPPRPFLDMGEGTKNRIITAEGIILLFCAVVPGTLLLFRKRWQNEKLGLDAGD
EYEDENLYEGLNLDDCSMYEDISRGLQGTYQDVGSLNIGDVQLEKP
Sequence length 226
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  B cell receptor signaling pathway
Primary immunodeficiency 		  CD22 mediated BCR regulation
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Agammaglobulinemia agammaglobulinemia 3, autosomal recessive rs1600631593, rs1555843601, rs1568801716 N/A
Immunodeficiency Inherited Immunodeficiency Diseases rs1600631294 N/A
Show/Hide Text Mining Associations (299)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia and Swiss type agammaglobulinemia Stimulate 31830942
Acquired Immunodeficiency Syndrome Associate 32532356
Acute Disease Associate 32820208
Acute On Chronic Liver Failure Associate 31198792
Adenocarcinoma Stimulate 1320634
Adenocarcinoma of Lung Associate 36728032, 37335089, 37543671
Adenoma Stimulate 32051696
Adenomatous Polyposis Coli Stimulate 35297393
Agammaglobulinemia Inhibit 28472507, 29335801
Agammaglobulinemia Associate 29335801