Hs02723104_cn

• Gene Symbol: SIX3
• Assay Reference Genome Location: Chr.2:44942524 on build GRCh38
• Cytoband: 2p21

Target Gene Details

• Entrez Gene ID: 6496
• Gene Name: SIX homeobox 3
• Gene Aliases: HPE2
• Location: Chr.2:44941898-44946077 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SIX3	NM_005413.3	1	627	NP_005404.1
	AJ012611.1	1	627	CAB42539.1
	AL162671.1	1	606	CAB83141.1
	BC030289.1	1	451

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv526534	Chr.2:44934159 - 44985100 on Build GRCh38	Loss	SIX3 SIX3-AS1
nsv953779	Chr.2:44932862 - 44955461 on Build GRCh38	Deletion	SIX3 SIX3-AS1
nsv457207	Chr.2:44931099 - 44967150 on Build GRCh38	Loss	SIX3 SIX3-AS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

homeodomain transcription factor

Gene Ontology Categories:

Process(es)

protein import into nucleus, translocation
eye development
epithelial cell maturation
lens development in camera-type eye
optic vesicle morphogenesis
transcription from RNA polymerase II promoter
brain development
visual perception
proximal/distal axis specification
neuroblast differentiation
telencephalon development
forebrain anterior/posterior pattern specification
forebrain dorsal/ventral pattern formation
cell proliferation in forebrain
telencephalon regionalization
pituitary gland development
negative regulation of Wnt signaling pathway
regulation of cell proliferation
negative regulation of neuron differentiation
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
circadian behavior
lens induction in camera-type eye
regulation of neural retina development
lens fiber cell differentiation
neuroblast migration
regulation of cell cycle phase transition
regulation of neuroblast proliferation
apoptotic process involved in development
lens fiber cell apoptotic process
regulation of neural precursor cell proliferation

Function(s)

RNA polymerase II distal enhancer sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor binding
transcription factor activity, sequence-specific DNA binding
transcription coactivator activity
protein binding
histone deacetylase binding