• Gene id: 932

Gene Summary

• Gene Symbol: MS4A3   Gene   UCSC   Ensembl
• Aliases: CD20L, HTM4
• Gene name: membrane spanning 4-domains A3
• Alternate names: membrane-spanning 4-domains subfamily A member 3, CD20 antigen homolog, CD20 antigen-like protein, IgE receptor beta chain, IgE receptor beta subunit, hematopoietic cell 4 transmembrane protein, hematopoietic-specific transmembrane protein 4, membrane-spanning 4,
• Gene location: 11q12.1 (60056627: 60071115)     Exons: 7     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells a
• OMIM: 606498

SNPs

rs10762738

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

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

Protein Summary

• Protein general information: Q96HJ5  
  • Name: Membrane spanning 4 domains subfamily A member 3 (CD20 antigen like protein) (Hematopoietic specific transmembrane protein 4) (HTm4)
  • Length: 214  
  • Mass: 22933
  • Tissue specificity: Expressed specifically in hematopoietic cells and tissues.
• Sequence:

  MASHEVDNAELGSASAHGTPGSEAGPEELNTSVYQPIDGSPDYQKAKLQVLGAIQILNAAMILALGVFLGSLQYP
  YHFQKHFFFFTFYTGYPIWGAVFFCSSGTLSVVAGIKPTRTWIQNSFGMNIASATIALVGTAFLSLNIAVNIQSL
  RSCHSSSESPDLCNYMGSISNGMVSLLLILTLLELCVTISTIAMWCNANCCNSREEISSPPNSV

• Structural information:
  • Interpro: IPR007237  IPR030417  IPR030419  
  • STRING: ENSP00000278865
• Other Databases: GeneCards:  MS4A3  Malacards:  MS4A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R