• Gene id: 11228

Gene Summary

• Gene Symbol: RASSF8   Gene   UCSC   Ensembl
• Aliases: C12orf2, HOJ1
• Gene name: Ras association domain family member 8
• Alternate names: ras association domain-containing protein 8, Ras association (RalGDS/AF-6) domain family (N-terminal) member 8, carcinoma-associated protein HOJ-1,
• Gene location: 12p12.1 (25958231: 26079888)     Exons: 15     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor supp
• OMIM: 608231

Protein Summary

• Protein general information: Q8NHQ8  
  • Name: Ras association domain containing protein 8 (Carcinoma associated protein HOJ 1)
  • Length: 419  
  • Mass: 48327
  • Tissue specificity: Widely expressed as a 6.2 kb transcript. A 2.2 kb alternatively spliced transcript is expressed exclusively in testis. {ECO
• Sequence:

  MELKVWVDGVQRIVCGVTEVTTCQEVVIALAQAIGRTGRYTLIEKWRDTERHLAPHENPIISLNKWGQYASDVQL
  ILRRTGPSLSERPTSDSVARIPERTLYRQSLPPLAKLRPQIDKSIKRREPKRKSLTFTGGAKGLMDIFGKGKETE
  FKQKVLNNCKTTADELKKLIRLQTEKLQSIEKQLESNEIEIRFWEQKYNSNLEEEIVRLEQKIKRNDVEIEEEEF
  WENELQIEQENEKQLKDQLQEIRQKITECENKLKDYLAQIRTMESGLEAEKLQREVQEAQVNEEEVKGKIGKVKG
  EIDIQGQQSLRLENGIKAVERSLGQATKRLQDKEQELEQLTKELRQVNLQQFIQQTGTKVTVLPAEPIEIEASHA
  DIEREAPFQSGSLKRPGSSRQLPSNLRILQNPISSGFNPEGIYV

• Structural information:
  • Protein Domains: (1..8-)
    (/note="Ras-associating-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00166"-)
  • Interpro: IPR033593  IPR000159  IPR033632  IPR029071  
  • Prosite: PS50200
  • PDB: 2CS4
  • PDBsum: 2CS4
  • STRING: ENSP00000384491
• Other Databases: GeneCards:  RASSF8  Malacards:  RASSF8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
GO:0034334	adherens junction maintenance	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881