Entity Details

Primary name SIX3
Entity type gene
Source Source Link

Details

PrimaryID6496
RefseqGeneNG_016222
SymbolSIX3
NameSIX homeobox 3
Chromosome2
Location2p21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-04-21
ModificationDate2021-06-15

Ontological Relatives

UniProt IDsSIX3_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001222 transcription corepressor binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001654 eye development
GO:0002070 epithelial cell maturation
GO:0002088 lens development in camera-type eye
GO:0003404 optic vesicle morphogenesis
GO:0005102 signaling receptor binding
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007420 brain development
GO:0007601 visual perception
GO:0009946 proximal/distal axis specification
GO:0014016 neuroblast differentiation
GO:0021537 telencephalon development
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0021846 cell proliferation in forebrain
GO:0021978 telencephalon regionalization
GO:0021983 pituitary gland development
GO:0042127 regulation of cell population proliferation
GO:0045665 negative regulation of neuron differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0061074 regulation of neural retina development
GO:0070306 lens fiber cell differentiation
GO:0097402 neuroblast migration
GO:1901987 regulation of cell cycle phase transition
GO:1902692 regulation of neuroblast proliferation
GO:1902742 apoptotic process involved in development
GO:1990086 lens fiber cell apoptotic process
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000177 regulation of neural precursor cell proliferation

Diseases

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Disease IDSourceNameDescription
157170 OMIMHoloprosencephaly 2 (HPE2)A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The disease is caused by variants affecting the gene represented in this entry.
269160 OMIMSchizencephaly (SCHZC)Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions