• Gene id: 157567

Gene Summary

• Gene Symbol: ANKRD46   Gene   UCSC   Ensembl
• Aliases: ANK-S, GENX-115279
• Gene name: ankyrin repeat domain 46
• Alternate names: ankyrin repeat domain-containing protein 46, ankyrin repeat small protein,
• Gene location: 8q22.3 (6755407: 6775646)     Exons: 11     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Protein Summary

• Protein general information: Q86W74  
  • Name: Ankyrin repeat domain containing protein 46 (Ankyrin repeat small protein) (ANK S)
  • Length: 232  
  • Mass: 25967
• Sequence:

  MSYVFVNDSSQTNVPLLQACIDGDFNYSKRLLESGFDPNIRDSRGRTGLHLAAARGNVDICQLLHKFGADLLATD
  YQGNTALHLCGHVDTIQFLVSNGLKIDICNHQGATPLVLAKRRGVNKDVIRLLESLEEQEVKGFNRGTHSKLETM
  QTAESESAMESHSLLNPNLQQGEGVLSSFRTTWQEFVEDLGFWRVLLLIFVIALLSLGIAYYRRTLRLGSFARQD
  RSRIQAI

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000429015
• Other Databases: GeneCards:  ANKRD46  Malacards:  ANKRD46

Gene ontology

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

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881