• Gene id: 4990

Gene Summary

• Gene Symbol: SIX6   Gene   UCSC   Ensembl
• Aliases: MCOPCT2, ODRMD, OPTX2, Six9
• Gene name: SIX homeobox 6
• Alternate names: homeobox protein SIX6, homeodomain protein OPTX2, optic homeobox 2, sine oculis homeobox homolog 6, sine oculis homeobox protein 6, sine oculis homeobox-like protein 6,
• Gene location: 14q23.1 (60509145: 60512849)     Exons: 2     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene a
• OMIM: 614789

Protein Summary

• Protein general information: O95475  
  • Name: Homeobox protein SIX6 (Homeodomain protein OPTX2) (Optic homeobox 2) (Sine oculis homeobox homolog 6)
  • Length: 246  
  • Mass: 27687
  • Tissue specificity: Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.
• Sequence:

  MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAACEALNKNESVLRARAIVAFHGGNYRELYHILE
  NHKFTKESHAKLQALWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRHLLREWYLQD
  PYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQQQVLSQGSGRALRAEGDGTPEVLGVATSPAAS
  LSSKAATSAISITSSDSECDI

• Structural information:
  • Interpro: IPR009057  IPR001356  IPR031701  IPR032947  
  • Prosite: PS50071
  • CDD: cd00086
  • STRING: ENSP00000328596
• Other Databases: GeneCards:  SIX6  Malacards:  SIX6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0048856	anatomical structure development	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0001654	eye development	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001654	eye development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Optic disc anomalies with retinal and/or macular dystrophy	KEGG:H02231
Optic disc anomalies with retinal and/or macular dystrophy	KEGG:H02231
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R