• Gene id: 51804

Gene Summary

• Gene Symbol: SIX4   Gene   UCSC   Ensembl
• Aliases: AREC3
• Gene name: SIX homeobox 4
• Alternate names: homeobox protein SIX4, sine oculis homeobox homolog 4,
• Gene location: 14q23.1 (60724350: 60709538)     Exons: 5     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the d
• OMIM: 604634

Protein Summary

• Protein general information: Q9UIU6  
  • Name: Homeobox protein SIX4 (Sine oculis homeobox homolog 4)
  • Length: 781  
  • Mass: 82933
• Sequence:

  MSSSSPTGQIASAADIKQENGMESASEGQEAHREVAGGAAVGLSPPAPAPFPLEPGDAATAAARVSGEEGAVAAA
  AAGAAADQVQLHSELLGRHHHAAAAAAQTPLAFSPDHVACVCEALQQGGNLDRLARFLWSLPQSDLLRGNESLLK
  ARALVAFHQGIYPELYSILESHSFESANHPLLQQLWYKARYTEAERARGRPLGAVDKYRLRRKFPLPRTIWDGEE
  TVYCFKEKSRNALKELYKQNRYPSPAEKRHLAKITGLSLTQVSNWFKNRRQRDRNPSETQSKSESDGNPSTEDES
  SKGHEDLSPHPLSSSSDGITNLSLSSHMEPVYMQQIGNAKISLSSSGVLLNGSLVPASTSPVFLNGNSFIQGPSG
  VILNGLNVGNTQAVALNPPKMSSNIVSNGISMTDILGSTSQDVKEFKVLQSSANSATTTSYSPSVPVSFPGLIPS
  TEVKREGIQTVASQDGGSVVTFTTPVQINQYGIVQIPNSGANSQFLNGSIGFSPLQLPPVSVAASQGNISVSSST
  SDGSTFTSESTTVQQGKVFLSSLAPSAVVYTVPNTGQTIGSVKQEGLERSLVFSQLMPVNQNAQVNANLSSENIS
  GSGLHPLASSLVNVSPTHNFSLSPSTLLNPTELNRDIADSQPMSAPVASKSTVTSVSNTNYATLQNCSLITGQDL
  LSVPMTQAALGEIVPTAEDQVGHPSPAVHQDFVQEHRLVLQSVANMKENFLSNSESKATSSLMMLDSKSKYVLDG
  MVDTVCEDLETDKKELAKLQTVQLDEDMQDL

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR031701  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000216513
• Other Databases: GeneCards:  SIX4  Malacards:  SIX4

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:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0048856	anatomical structure development	IBA	biological process
GO:1902725	negative regulation of satellite cell differentiation	ISS	biological process
GO:0098528	skeletal muscle fiber differentiation	ISS	biological process
GO:0072095	regulation of branch elongation involved in ureteric bud branching	ISS	biological process
GO:0061055	myotome development	ISS	biological process
GO:0050678	regulation of epithelial cell proliferation	ISS	biological process
GO:0048699	generation of neurons	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0034504	protein localization to nucleus	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072107	positive regulation of ureteric bud formation	ISS	biological process
GO:0072075	metanephric mesenchyme development	ISS	biological process
GO:0061551	trigeminal ganglion development	ISS	biological process
GO:0061197	fungiform papilla morphogenesis	ISS	biological process
GO:0060037	pharyngeal system development	ISS	biological process
GO:0046661	male sex differentiation	ISS	biological process
GO:0045214	sarcomere organization	ISS	biological process
GO:0043586	tongue development	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0030910	olfactory placode formation	ISS	biological process
GO:0030238	male sex determination	ISS	biological process
GO:0008584	male gonad development	ISS	biological process
GO:0007519	skeletal muscle tissue development	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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:1902725	negative regulation of satellite cell differentiation	IEA	biological process
GO:0098528	skeletal muscle fiber differentiation	IEA	biological process
GO:0072095	regulation of branch elongation involved in ureteric bud branching	IEA	biological process
GO:0061055	myotome development	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048699	generation of neurons	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0034504	protein localization to nucleus	IEA	biological process
GO:0008582	regulation of synaptic growth at neuromuscular junction	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
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:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0072107	positive regulation of ureteric bud formation	IEA	biological process
GO:0072075	metanephric mesenchyme development	IEA	biological process
GO:0061551	trigeminal ganglion development	IEA	biological process
GO:0061197	fungiform papilla morphogenesis	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0051451	myoblast migration	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0046661	male sex differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0043586	tongue development	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0032880	regulation of protein localization	IEA	biological process
GO:0030910	olfactory placode formation	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

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