Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
974
Gene name Gene Name - the full gene name approved by the HGNC.
CD79b molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD79B
Synonyms (NCBI Gene) Gene synonyms aliases
AGM6, B29, IGB, Igbeta
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.3
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.
SNP ID Visualize variation Clinical significance Consequence
rs121912424 C>T Pathogenic Coding sequence variant, intron variant, missense variant
rs267606711 G>A Pathogenic Intron variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT876174 hsa-miR-124 CLIP-seq
MIRT876175 hsa-miR-3612 CLIP-seq
MIRT876176 hsa-miR-3918 CLIP-seq
MIRT876177 hsa-miR-4271 CLIP-seq
MIRT876178 hsa-miR-4443 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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, 25910212, 32296183, 35512704
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147245 1699 ENSG00000007312
Protein
UniProt ID P40259
Protein name B-cell antigen receptor complex-associated protein beta chain (B-cell-specific glycoprotein B29) (Ig-beta) (Immunoglobulin-associated B29 protein) (CD antigen CD79b)
Protein function Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. En
PDB 3KG5 , 7WSO , 7WSP , 7XQ8 , 7XT6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 48 143 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: B-cells.
Sequence
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFT
VKMHCYMNSASGNVSWLWKQEMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIY
FCQQKCNNTSEVYQGCGTELRVM
GFSTLAQLKQRNTLKDGIIMIQTLLIILFIIVPIFLL
LDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE
Sequence length 229
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  B cell receptor signaling pathway   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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Agammaglobulinemia agammaglobulinemia 6, autosomal recessive rs121912424, rs267606711 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32509861
Agammaglobulinemia non Bruton type Associate 21039741
beta Thalassemia Associate 31906886
Brain Neoplasms Associate 37423059
Burkitt Lymphoma Associate 29669863
Central Nervous System Diseases Associate 37997571
Chromosome 12 12p trisomy Associate 12708898, 28187524
Chromosome 12 12p trisomy Stimulate 18061951
Epilepsies Partial Associate 27915469
Epstein Barr Virus Infections Associate 33202420