• Gene id: 51338

Gene Summary

• Gene Symbol: MS4A4A   Gene   UCSC   Ensembl
• Aliases: 4SPAN1, CD20-L1, CD20L1, HDCME31P, MS4A4, MS4A7
• Gene name: membrane spanning 4-domains A4A
• Alternate names: membrane-spanning 4-domains subfamily A member 4A, CD20 antigen-like 1, Fc epsilon receptor beta subunit homolog, epididymis secretory sperm binding protein, four-span transmembrane protein 1, membrane-spanning 4-domains, subfamily A, member 4,
• Gene location: 11q12.2 (60280665: 60308969)     Exons: 9     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cell
• OMIM: 611908

Protein Summary

• Protein general information: Q96JQ5  
  • Name: Membrane spanning 4 domains subfamily A member 4A (CD20 antigen like 1) (Four span transmembrane protein 1)
  • Length: 239  
  • Mass: 25441
  • Tissue specificity: Variable expression in multiple hemopoietic cell lines.
• Sequence:

  MHQTYSRHCRPEESTFSAAMTTMQGMEQAMPGAGPGVPQLGNMAVIHSHLWKGLQEKFLKGEPKVLGVVQILTAL
  MSLSMGITMMCMASNTYGSNPISVYIGYTIWGSVMFIISGSLSIAAGIRTTKGLVRGSLGMNITSSVLAASGILI
  NTFSLAFYSFHHPYCNYYGNSNNCHGTMSILMGLDGMVLLLSVLEFCIAVSLSAFGCKVLCCTPGGVVLILPSHS
  HMAETASPTPLNEV

• Structural information:
  • Interpro: IPR007237  IPR030417  IPR030425  
  • STRING: ENSP00000338648
• Other Databases: GeneCards:  MS4A4A  Malacards:  MS4A4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R