• Gene id: 552889

Gene Summary

• Gene Symbol: ATXN7L3B   Gene   UCSC   Ensembl
• Aliases: lnc-SCA7
• Gene name: ataxin 7 like 3B
• Alternate names: ataxin-7-like protein 3B, putative ataxin-7-like protein 3B,
• Gene location: 12q21.1 (74537834: 74545429)     Exons: 5     NC_000012.12
• OMIM: 615579

Protein Summary

• Protein general information: Q96GX2  
  • Name: Ataxin 7 like protein 3B
  • Length: 97  
  • Mass: 10771
• Sequence:

  MEEISLANLDTNKLEAIAQEIYVDLIEDSCLGFCFEVHRAVKCGYFYLEFAETGSVKDFGIQPVEDKGACRLPLC
  SLPGEPGNGPDQQLQRSPPEFQ

• Structural information:
  • Interpro: IPR042933  
  • STRING: ENSP00000430000
• Other Databases: GeneCards:  ATXN7L3B  Malacards:  ATXN7L3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010468	regulation of gene expression	IBA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0010468	regulation of gene expression	IEP	biological process

Diseases

Associated diseases	References
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)