• Gene id: 10736

Gene Summary

• Gene Symbol: SIX2   Gene   UCSC   Ensembl
• Gene name: SIX homeobox 2
• Alternate names: homeobox protein SIX2, sine oculis homeobox homolog 2,
• Gene location: 2p21 (45009644: 45005181)     Exons: 2     NC_000002.12
• Gene summary(Entrez): This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or
• OMIM: 614281

Protein Summary

• Protein general information: Q9NPC8  
  • Name: Homeobox protein SIX2 (Sine oculis homeobox homolog 2)
  • Length: 291  
  • Mass: 32286
  • Tissue specificity: Strongly expressed in skeletal muscle. Expressed in Wilms' tumor and in the cap mesenchyme of fetal kidney (at protein level). {ECO
• Sequence:

  MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHRGNFRELYKILESHQF
  SPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRSIWDGEETSYCFKEKSRSVLREWYAHNPYPS
  PREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTPSGTPDHS
  SSSPALLLSPPPPGLPSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILNPMSANLVDLGS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR031701  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000304502
• Other Databases: GeneCards:  SIX2  Malacards:  SIX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
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:0001822	kidney development	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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0016477	cell migration	IDA	biological process
GO:0008283	cell population proliferation	IDA	biological process
GO:0072161	mesenchymal cell differentiation involved in kidney development	ISS	biological process
GO:0072038	mesenchymal stem cell maintenance involved in nephron morphogenesis	ISS	biological process
GO:0007501	mesodermal cell fate specification	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:1902732	positive regulation of chondrocyte proliferation	ISS	biological process
GO:0097168	mesenchymal stem cell proliferation	ISS	biological process
GO:0090189	regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072028	nephron morphogenesis	ISS	biological process
GO:0072006	nephron development	ISS	biological process
GO:0048557	embryonic digestive tract morphogenesis	ISS	biological process
GO:0009948	anterior/posterior axis specification	ISS	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001656	metanephros development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007501	mesodermal cell fate specification	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0032330	regulation of chondrocyte differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0072038	mesenchymal stem cell maintenance involved in nephron morphogenesis	IEA	biological process
GO:0072137	condensed mesenchymal cell proliferation	IEA	biological process
GO:0072161	mesenchymal cell differentiation involved in kidney development	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006606	protein import into nucleus	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008283	cell population proliferation	IEA	biological process
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0072006	nephron development	IEA	biological process
GO:0072028	nephron morphogenesis	IEA	biological process
GO:0090189	regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0097168	mesenchymal stem cell proliferation	IEA	biological process
GO:1902732	positive regulation of chondrocyte proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001822	kidney development	IMP	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
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:0001822	kidney development	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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0016477	cell migration	IDA	biological process
GO:0008283	cell population proliferation	IDA	biological process
GO:0072161	mesenchymal cell differentiation involved in kidney development	ISS	biological process
GO:0072038	mesenchymal stem cell maintenance involved in nephron morphogenesis	ISS	biological process
GO:0007501	mesodermal cell fate specification	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:1902732	positive regulation of chondrocyte proliferation	ISS	biological process
GO:0097168	mesenchymal stem cell proliferation	ISS	biological process
GO:0090189	regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072028	nephron morphogenesis	ISS	biological process
GO:0072006	nephron development	ISS	biological process
GO:0048557	embryonic digestive tract morphogenesis	ISS	biological process
GO:0009948	anterior/posterior axis specification	ISS	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001656	metanephros development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007501	mesodermal cell fate specification	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0032330	regulation of chondrocyte differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0072038	mesenchymal stem cell maintenance involved in nephron morphogenesis	IEA	biological process
GO:0072137	condensed mesenchymal cell proliferation	IEA	biological process
GO:0072161	mesenchymal cell differentiation involved in kidney development	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006606	protein import into nucleus	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008283	cell population proliferation	IEA	biological process
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0072006	nephron development	IEA	biological process
GO:0072028	nephron morphogenesis	IEA	biological process
GO:0090189	regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0097168	mesenchymal stem cell proliferation	IEA	biological process
GO:1902732	positive regulation of chondrocyte proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001822	kidney development	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881