CD79A (CD79a molecule)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 973
Gene name CD79a molecule
Gene symbol CD79A
Synonyms (NCBI Gene)
IGAIGAlphaMB-1MB1
Chromosome 19
Chromosome location 19q13.2
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.
4
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.
23
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CHD4 Repression 23071088
PAX5 Activation 9545244
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
112205 1698 ENSG00000105369
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors 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.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors 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 3, autosomal recessive Likely pathogenic; Pathogenic rs1555844063, rs1600631593, rs1555843601, rs1568801716 RCV003023406
RCV000019280
RCV000019281
RCV000691714
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases Pathogenic rs1600631294 RCV001027560
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
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
Autosomal recessive agammaglobulinemia 1 Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CD79A-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (255)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 31778021
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 31778021
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10874883, 12653584, 15492262, 16271957, 30396184
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10874883, 12653584, 8656670
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 10874883, 12653584
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 15892171
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia BEFREE 11920841, 29335801
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG 19302039
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 28472507, 29335801 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 29335801 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only