Vax2 ventral anterior homeobox 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vax2provided by MGI
Official Full Name: ventral anterior homeobox 2provided by MGI
Primary source: MGI:MGI:1346018
See related: Ensembl:ENSMUSG00000034777 AllianceGenome:MGI:1346018
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dres93
Summary: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity; and chromatin DNA binding activity. Involved in forebrain development and negative regulation of transcription by RNA polymerase II. Acts upstream of or within axonogenesis; dorsal/ventral axis specification; and eye development. Located in cytoplasm and nucleus. Is expressed in several structures, including eye; limb; liver; lung; and nervous system. Orthologous to human VAX2 (ventral anterior homeobox 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 1.1), limb E14.5 (RPKM 0.3) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3; 6 35.94 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (83688221..83715295)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (83711239..83738313)

Chromosome 6 - NC_000072.7 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
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?

Vax1 and Vax2 genes counteract Mitf-induced respecification of the retinal pigment epithelium.
Title: Vax1/2 genes counteract Mitf-induced respecification of the retinal pigment epithelium.
Vax2 is both necessary and sufficient for the control of intraretinal retinoic acid metabolism, which in turn contributes to the appropriate expression of cone opsins in the vertebrate eye.
Title: Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 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:488503

D6Mit8 (e-PCR), detects polymorphism
- UniSTS:116325

AW742418 (e-PCR)
- UniSTS:207983

D6Mit8.1 (e-PCR), detects polymorphism
- UniSTS:130982

D6Mit8.2 (e-PCR), detects polymorphism
- UniSTS:130983

Vax2 (e-PCR), detects polymorphism
- UniSTS:527039

Y17792 (e-PCR)
- UniSTS:179405

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 DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dorsal/ventral axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic eye morphogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron differentiation	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
acts_upstream_of_or_within retina development in camera-type eye	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ventral anterior homeobox 2

Names: ventral anterior homeobox containing gene 2; ventral retina homeodomain protein

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.