• Gene id: 973

Gene Summary

• Gene Symbol: CD79A   Gene   UCSC   Ensembl
• Aliases: IGA, MB-1
• Gene name: CD79a molecule
• Alternate names: B-cell antigen receptor complex-associated protein alpha chain, CD79a antigen (immunoglobulin-associated alpha), CD79a molecule, immunoglobulin-associated alpha, MB-1 membrane glycoprotein, ig-alpha, membrane-bound immunoglobulin-associated protein, surfa,
• Gene location: 19q13.2 (41877119: 41881371)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 112205

SNPs

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4539842

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48755625A>T
NC_000002.11   g.48982764A>T
NG_033050.2   g.230701A>T
NG_033050.1   g.230701A>T
NG_008193.2   g.5117T>A
NG_008193.1   g.5117T>A
NM_000233.4   c.47T>A
NM_000233.3   c.47T>A
NP_000224.2   p.Leu16Gln|SEQ=[A/T]|GENE=LHCGR
STON1-GTF2A1L   2

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs11614913

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.53991815C>T
NC_000012.11   g.54385599C>T
NR_029617.1   n.78C>T|SEQ=[C/T]|GENE=MIR196A2

rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

Protein Summary

• Protein general information: P11912  
  • 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)
  • Length: 226  
  • Mass: 25,038
• Sequence:

  MPGGPGVLQALPATIFLLFLLSAVYLGPGCQALWMHKVPASLMVSLGEDAHFQCPHNSSNNANVTWWRVLHGNYT
  WPPEFLGPGEDPNGTLIIQNVNKSHGGIYVCRVQEGNESYQQSCGTYLRVRQPPPRPFLDMGEGTKNRIITAEGI
  ILLFCAVVPGTLLLFRKRWQNEKLGLDAGDEYEDENLYEGLNLDDCSMYEDISRGLQGTYQDVGSLNIGDVQLEK
  P

• Structural information:
  • Protein Domains: Ig-like (33-116)
    ITAM. (177-205)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR013151  IPR003110  
  • Prosite: PS50835 PS51055
  • PDB: 1CV9
  • PDBsum: 1CV9
  • STRING: ENSP00000221972
• Other Databases: GeneCards:  CD79A  Malacards:  CD79A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002250	adaptive immune response	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005771	multivesicular body	ISS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0019815	B cell receptor complex	ISS	cellular component
GO:0019815	B cell receptor complex	IBA	cellular component
GO:0030183	B cell differentiation	ISS	biological process
GO:0030183	B cell differentiation	IBA	biological process
GO:0042100	B cell proliferation	ISS	biological process
GO:0042113	B cell activation	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0050853	B cell receptor signaling pathway	ISS	biological process
GO:0050853	B cell receptor signaling pathway	IBA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005771	multivesicular body	IEA	cellular component
GO:0005771	multivesicular body	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019815	B cell receptor complex	IEA	cellular component
GO:0019815	B cell receptor complex	ISS	cellular component
GO:0019815	B cell receptor complex	IBA	cellular component
GO:0030183	B cell differentiation	IEA	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0030183	B cell differentiation	IBA	biological process
GO:0042100	B cell proliferation	IEA	biological process
GO:0042100	B cell proliferation	ISS	biological process
GO:0042113	B cell activation	IEA	biological process
GO:0042113	B cell activation	ISS	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0045121	membrane raft	ISS	cellular component
GO:0050853	B cell receptor signaling pathway	IEA	biological process
GO:0050853	B cell receptor signaling pathway	ISS	biological process
GO:0050853	B cell receptor signaling pathway	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005771	multivesicular body	ISS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0019815	B cell receptor complex	ISS	cellular component
GO:0019815	B cell receptor complex	IBA	cellular component
GO:0030183	B cell differentiation	ISS	biological process
GO:0030183	B cell differentiation	IBA	biological process
GO:0042100	B cell proliferation	ISS	biological process
GO:0042113	B cell activation	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0050853	B cell receptor signaling pathway	ISS	biological process
GO:0050853	B cell receptor signaling pathway	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04662	B cell receptor signaling pathway
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Cancer	GAD: 19573080
Agammaglobulinemias	KEGG: H00085
Hodgkin disease	GAD: 19573080
Chronic endometritis (CE)	INFBASE: 24898900
Endometriosis	INFBASE: 26054109
Female infertility	INFBASE: 26054109
Oligoasthenozoospermia	MIK: 19239426
Sperm autoantibodies	MIK: 19239426
Male factor infertility	MIK: 19239426
Asthenozoospermia	MIK: 19239426
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 19239426
Sperm autoantibodies	MIK: 19239426
Oligoasthenozoospermia	MIK: 19239426
Asthenozoospermia	MIK: 19239426

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19239426	Male infertility, Sperm autoantibodies, oligoasthenospermia, asthenospermia				Male infertility	IL-1beta IL-2  IL-4 IL-5 IL-6 IL-8 IL-10 IL-12p70 TNF-alpha and IFN-gamma
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq