• Gene id: 140461

Gene Summary

• Gene Symbol: ASB8   Gene   UCSC   Ensembl
• Aliases: PP14212
• Gene name: ankyrin repeat and SOCS box containing 8
• Alternate names: ankyrin repeat and SOCS box protein 8,
• Gene location: 12q13.11 (48157514: 48147788)     Exons: 7     NC_000012.12
• OMIM: 615053

Protein Summary

• Protein general information: Q9H765  
  • Name: Ankyrin repeat and SOCS box protein 8 (ASB 8)
  • Length: 288  
  • Mass: 31642
  • Tissue specificity: Highest level of expression in skeletal muscle. Also expressed in heart, brain, placenta, liver, kidney and pancreas. {ECO
• Sequence:

  MSSSMWYIMQSIQSKYSLSERLIRTIAAIRSFPHDNVEDLIRGGADVNCTHGTLKPLHCACMVSDADCVELLLEK
  GAEVNALDGYNRTALHYAAEKDEACVEVLLEYGANPNALDGNRDTPLHWAAFKNNAECVRALLESGASVNALDYN
  NDTPLSWAAMKGNLESVSILLDYGAEVRVINLIGQTPISRLVALLVRGLGTEKEDSCFELLHRAVGHFELRKNGT
  MPREVARDPQLCEKLTVLCSAPGTLKTLARYAVRRSLGLQYLPDAVKGLPLPASLKEYLLLLE

• Structural information:
  • Protein Domains: (235..28-)
    (/note="SOCS-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00194"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037332  IPR001496   IPR036036  
  • Prosite: PS50297 PS50088 PS50225
  • CDD: cd03727
  • STRING: ENSP00000320893
• Other Databases: GeneCards:  ASB8  Malacards:  ASB8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

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