• Gene id: 245802

Gene Summary

• Gene Symbol: MS4A6E   Gene   UCSC   Ensembl
• Gene name: membrane spanning 4-domains A6E
• Alternate names: membrane-spanning 4-domains subfamily A member 6E, membrane-spanning 4-domains, subfamily A, member 6E,
• Gene location: 11q12.2 (60327254: 60341340)     Exons: 4     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 and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic
• OMIM: 608402

Protein Summary

• Protein general information: Q96DS6  
  • Name: Membrane spanning 4 domains subfamily A member 6E
  • Length: 147  
  • Mass: 15909
  • Tissue specificity: Expressed by malignant and fetal tissue at very low levels.
• Sequence:

  MTSQPISNETIIMLPSNVINFSQAEKPEPTNQGQDSLKKRLQAKVKVIGVHSSLAGSILSALSALVGFILLSVNP
  AALNPASLQCKLDEKDIPTRLLLSYDYHSPYTMDCHRAKASLAGTLSLMLVSTVLEFCLAVLTAVLQWKQTV

• Structural information:
  • Interpro: IPR007237  IPR030417  IPR030427  
  • STRING: ENSP00000300182
• Other Databases: GeneCards:  MS4A6E  Malacards:  MS4A6E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray