Six6 sine oculis-related homeobox 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Six6provided by MGI
Official Full Name: sine oculis-related homeobox 6provided by MGI
Primary source: MGI:MGI:1341840
See related: Ensembl:ENSMUSG00000021099 AllianceGenome:MGI:1341840
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Six9; Optx2
Summary: This gene encodes a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 12 and is thought to be involved in eye development. The encoded transcription factor regulates early progenitor cell proliferation during mammalian retinogenesis and pituitary development. Mice lacking this gene exhibit abnormal development of the suprachiasmatic nucleus and circadian rhythms. [provided by RefSeq, Sep 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 12 C3; 12 30.31 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (72986656..72991673)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (72939882..72944899)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Homeodomain Transcription Factors Vax1 and Six6 Are Required for SCN Development and Function.
Title: The Homeodomain Transcription Factors Vax1 and Six6 Are Required for SCN Development and Function.
Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.
Title: Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.
Six3 and Six6 together directly or indirectly suppress Wnt/beta-catenin signaling but promote retinogenic factors for the maintenance of multipotent neuroretinal progenitors.
Title: Six3 and Six6 Are Jointly Required for the Maintenance of Multipotent Retinal Progenitors through Both Positive and Negative Regulation.
Six6 plays distinct roles in maintaining fertility in the GnRH neuron vs in the migratory environment of the GnRH neuron by maintaining expression of GnRH and survival of GnRH neurons, respectively.
Title: Deletion of the Homeodomain Protein Six6 From GnRH Neurons Decreases GnRH Gene Expression, Resulting in Infertility.
SIX3 and SIX6 play distinct but compensatory roles in regulating transcription of gonadotrope-specific genes as gonadotrope cells differentiate.
Title: Homeodomain Proteins SIX3 and SIX6 Regulate Gonadotrope-specific Genes During Pituitary Development.
Six6-null mice display abnormal patterns of circadian behavior.
Title: Aberrant development of the suprachiasmatic nucleus and circadian rhythms in mice lacking the homeodomain protein Six6.
SoxB1 transcription factors are direct activators of Six6 expression in the ventral forebrain
Title: Direct transcriptional regulation of Six6 is controlled by SoxB1 binding to a remote forebrain enhancer.
Six6 plays an important role in the regulation of GnRH expression and hypothalamic control of fertility.
Title: Hypothalamic dysregulation and infertility in mice lacking the homeodomain protein Six6.
Results show that Lhx2 and Pax6 transcription factors operate in a concerted manner during retinal development to promote transcriptional activation of the Six6 homeobox-gene in primitive and mature retinal progenitors.
Title: The LIM homeobox transcription factor Lhx2 is required to specify the retina field and synergistically cooperates with Pax6 for Six6 trans-activation.
Six 3 and Six 6 are differentially required during forebrain development; gene expression in brain
Title: Comparative analysis of Six 3 and Six 6 distribution in the developing and adult mouse brain.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548465

BB280418 (e-PCR)
- UniSTS:208821

Six6 (e-PCR), detects polymorphism
- UniSTS:527037

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in eye development	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: homeobox protein SIX6

Names: optic homeobox 2; sine oculis homeobox homolog 6; sine oculis-related homeobox 6 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011384.5 → NP_035514.1 homeobox protein SIX6

See identical proteins and their annotated locations for NP_035514.1

Status: REVIEWED

Source sequence(s)

AC159823, AK029309

Consensus CDS

CCDS25972.1

UniProtKB/Swiss-Prot

O88423, Q9QZ28

UniProtKB/TrEMBL

B2RSE8

Related

ENSMUSP00000021519.5, ENSMUST00000021519.7

Conserved Domains (2) summary

cd00086
Location:130 → 178

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:9 → 122

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain