• Gene id: 1102

Gene Summary

• Gene Symbol: RCBTB2   Gene   UCSC   Ensembl
• Aliases: CHC1L, RLG
• Gene name: RCC1 and BTB domain containing protein 2
• Alternate names: RCC1 and BTB domain-containing protein 2, RCC1-like G exchanging factor RLG, regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2,
• Gene location: 13q14.2 (48535996: 48488962)     Exons: 18     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in
• OMIM: 603524

Protein Summary

• Protein general information: O95199  
  • Name: RCC1 and BTB domain containing protein 2 (Chromosome condensation 1 like) (CHC1 L) (RCC1 like G exchanging factor) (Regulator of chromosome condensation and BTB domain containing protein 2)
  • Length: 551  
  • Mass: 60315
• Sequence:

  MEEELPLFSGDSGKPVQATLSSLKMLDVGKWPIFSLCSEEELQLIRQACVFGSAGNEVLYTTVNDEIFVLGTNCC
  GCLGLGDVQSTIEPRRLDSLNGKKIACLSYGSGPHIVLATTEGEVFTWGHNAYSQLGNGTTNHGLVPCHISTNLS
  NKQVIEVACGSYHSLVLTSDGEVFAWGYNNSGQVGSGSTVNQPIPRRVTGCLQNKVVVTIACGQMCCMAVVDTGE
  VYVWGYNGNGQLGLGNSGNQPTPCRVAALQGIRVQRVACGYAHTLVLTDEGQVYAWGANSYGQLGTGNKSNQSYP
  TPVTVEKDRIIEIAACHSTHTSAAKTQGGHVYMWGQCRGQSVILPHLTHFSCTDDVFACFATPAVTWRLLSVEPD
  DHLTVAESLKREFDNPDTADLKFLVDGKYIYAHKVLLKIRCEHFRSSLEDNEDDIVEMSEFSYPVYRAFLEYLYT
  DSISLSPEEAVGLLDLATFYRENRLKKLCQQTIKQGICEENAIALLSAAVKYDAQDLEEFCFRFCINHLTVVTQT
  SGFAEMDHDLLKNFISKASRVGAFKN

• Structural information:
  • Protein Domains: (394..45-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR009091  IPR000408  IPR011333  
  • Prosite: PS50097 PS00626 PS50012
  • STRING: ENSP00000389910
• Other Databases: GeneCards:  RCBTB2  Malacards:  RCBTB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005087	Ran guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001669	acrosomal vesicle	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			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