CD79B (CD79b molecule)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 974
Gene name CD79b molecule
Gene symbol CD79B
Synonyms (NCBI Gene)
AGM6B29IGBIgbeta
Chromosome 17
Chromosome location 17q23.3
Summary 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.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147245 1699 ENSG00000007312
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
FCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKDGIIMIQTLLIILFIIVPIFLL
LDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE
Sequence length 229
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  B cell receptor signaling pathway   CD22 mediated BCR regulation
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Agammaglobulinemia 6, autosomal recessive Pathogenic rs121912424, rs267606711 RCV000015925
RCV000015926
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse Likely pathogenic rs1907977856 RCV003318324
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL AGAMMAGLOBULINEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL NON-SYNDROMIC AGAMMAGLOBULINEMIA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CD79B-related disorder Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER DISEASES — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (82)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 8656670
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 24444466, 25708834, 26699656, 28803429, 29734251, 31123031, 31609782
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 11396639, 23405135
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia BEFREE 18978465
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG 24722855
★★★★★
★☆☆☆☆
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 6, AUTOSOMAL RECESSIVE Agammaglobulinemia UNIPROT_DG 17675462
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Agammaglobulinemia GENOMICS_ENGLAND_DG 24722855
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Agammaglobulinemia CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)