• Gene id: 79833

Gene Summary

• Gene Symbol: GEMIN6   Gene   UCSC   Ensembl
• Gene name: gem nuclear organelle associated protein 6
• Alternate names: gem-associated protein 6, SIP2, gemin-6,
• Gene location: 2p22.1 (38778209: 38785001)     Exons: 3     NC_000002.12
• Gene summary(Entrez): GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (
• OMIM: 607006

Protein Summary

• Protein general information: Q8WXD5  
  • Name: Gem associated protein 6 (Gemin 6) (SIP2)
  • Length: 167  
  • Mass: 18824
• Sequence:

  MSEWMKKGPLEWQDYIYKEVRVTASEKNEYKGWVLTTDPVSANIVLVNFLEDGSMSVTGIMGHAVQTVETMNEGD
  HRVREKLMHLFTSGDCKAYSPEDLEERKNSLKKWLEKNHIPITEQGDAPRTLCVAGVLTIDPPYGPENCSSSNEI
  ILSRVQDLIEGHLTASQ

• Structural information:
  • Interpro: IPR009422  
  • PDB: 1Y96
  • PDBsum: 1Y96
  • DIP: 41331
  • STRING: ENSP00000281950
• Other Databases: GeneCards:  GEMIN6  Malacards:  GEMIN6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032797	SMN complex	IBA	cellular component
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0034719	SMN-Sm protein complex	IBA	cellular component
GO:0032797	SMN complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0034719	SMN-Sm protein complex	IDA	cellular component
GO:0097504	Gemini of coiled bodies	IDA	cellular component
GO:0000245	spliceosomal complex assembly	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0051170	import into nucleus	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0005654	nucleoplasm	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:0005829	cytosol	TAS	cellular component
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: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: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:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray