• Gene id: 6496

Gene Summary

• Gene Symbol: SIX3   Gene   UCSC   Ensembl
• Aliases: HPE2
• Gene name: SIX homeobox 3
• Alternate names: homeobox protein SIX3, sine oculis homeobox homolog 3, sine oculis homeobox-like protein 3, truncated SIX3,
• Gene location: 2p21 (44941701: 44946070)     Exons: 2     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
• OMIM: 603714

Protein Summary

• Protein general information: O95343  
  • Name: Homeobox protein SIX3 (Sine oculis homeobox homolog 3)
  • Length: 332  
  • Mass: 35487
• Sequence:

  MVFRSPLDLYSSHFLLPNFADSHHRSILLASSGGGNGAGGGGGAGGGSGGGNGAGGGGAGGAGGGGGGGSRAPPE
  ELSMFQLPTLNFSPEQVASVCETLEETGDIERLGRFLWSLPVAPGACEAINKHESILRARAVVAFHTGNFRDLYH
  ILENHKFTKESHGKLQAMWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRSLLREWY
  LQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQHQAIGPSGMRSLAEPGCPTHGSAESPSTA
  ASPTTSVSSLTERADTGTSILSVTSSDSECDV

• Structural information:
  • Interpro: IPR009057  IPR001356  IPR031701  IPR032949  
  • Prosite: PS50071
  • CDD: cd00086
  • STRING: ENSP00000260653
• Other Databases: GeneCards:  SIX3  Malacards:  SIX3

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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0001654	eye development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0007420	brain development	IBA	biological process
GO:0048856	anatomical structure development	IBA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0001654	eye development	IDA	biological process
GO:0021798	forebrain dorsal/ventral pattern formation	IDA	biological process
GO:2000177	regulation of neural precursor cell proliferation	ISS	biological process
GO:1990086	lens fiber cell apoptotic process	ISS	biological process
GO:1902742	apoptotic process involved in development	ISS	biological process
GO:1902692	regulation of neuroblast proliferation	ISS	biological process
GO:0097402	neuroblast migration	ISS	biological process
GO:0070306	lens fiber cell differentiation	ISS	biological process
GO:0042127	regulation of cell population proliferation	ISS	biological process
GO:0021983	pituitary gland development	ISS	biological process
GO:0021846	cell proliferation in forebrain	ISS	biological process
GO:0021537	telencephalon development	ISS	biological process
GO:0014016	neuroblast differentiation	ISS	biological process
GO:0009946	proximal/distal axis specification	ISS	biological process
GO:0002088	lens development in camera-type eye	ISS	biological process
GO:1901987	regulation of cell cycle phase transition	ISS	biological process
GO:0061074	regulation of neural retina development	ISS	biological process
GO:0045665	negative regulation of neuron differentiation	ISS	biological process
GO:0021978	telencephalon regionalization	ISS	biological process
GO:0003404	optic vesicle morphogenesis	ISS	biological process
GO:0002070	epithelial cell maturation	ISS	biological process
GO:0001222	transcription corepressor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001222	transcription corepressor binding	IPI	molecular function
GO:0001222	transcription corepressor binding	IPI	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:0007420	brain development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007420	brain development	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000177	regulation of neural precursor cell proliferation	IEA	biological process
GO:1990086	lens fiber cell apoptotic process	IEA	biological process
GO:1902742	apoptotic process involved in development	IEA	biological process
GO:1902692	regulation of neuroblast proliferation	IEA	biological process
GO:0097402	neuroblast migration	IEA	biological process
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0048512	circadian behavior	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043010	camera-type eye development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021846	cell proliferation in forebrain	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0021536	diencephalon development	IEA	biological process
GO:0014016	neuroblast differentiation	IEA	biological process
GO:0009946	proximal/distal axis specification	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:1901987	regulation of cell cycle phase transition	IEA	biological process
GO:0061074	regulation of neural retina development	IEA	biological process
GO:0060235	lens induction in camera-type eye	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0021978	telencephalon regionalization	IEA	biological process
GO:0021797	forebrain anterior/posterior pattern specification	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0006606	protein import into nucleus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003404	optic vesicle morphogenesis	IEA	biological process
GO:0002070	epithelial cell maturation	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0001222	transcription corepressor binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function

Diseases

Associated diseases	References
Holoprosencephaly	KEGG:H00267
Schizencephaly	KEGG:H01160
Holoprosencephaly	KEGG:H00267
Schizencephaly	KEGG:H01160
Holoprosencephaly	PMID:10369266
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