Hoxa2 homeobox A2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hoxa2provided by MGI
Official Full Name: homeobox A2provided by MGI
Primary source: MGI:MGI:96174
See related: Ensembl:ENSMUSG00000014704 AllianceGenome:MGI:96174
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: HOX1.11; Hox-1.11
Summary: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is expressed in rhombomere 2 and is important for hindbrain formation in the early embryo. [provided by RefSeq, Mar 2013]
Expression: Broad expression in CNS E14 (RPKM 3.6), CNS E11.5 (RPKM 2.7) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B3; 6 25.4 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (52139389..52141808, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (52162417..52164831, complement)

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HOX paralogs selectively convert binding of ubiquitous transcription factors into tissue-specific patterns of enhancer activation.
Title: HOX paralogs selectively convert binding of ubiquitous transcription factors into tissue-specific patterns of enhancer activation.
Study demonstrates that Hoxa-2 protein express in all ossicular blastemata of the mouse embryo, which could suggest a contribution of second arch cells to the entire ossicular chain.
Title: Hox-A2 protein expression in mouse embryo middle ear ossicles.
These results establish a role for Hox factors in tonotopic refinement of connectivity and in ensuring the precision of sound transmission in the mammalian auditory circuit.
Title: Hox2 Genes Are Required for Tonotopic Map Precision and Sound Discrimination in the Mouse Auditory Brainstem.
Hoxa2, Meis and Pbx proteins act cooperatively on the ECR, via a core 32 bp sequence, to regulate Hmx1 expression.
Title: A distal 594 bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex.
our data support that KPC2 regulates Hoxa2 by promoting its relocation to the cytoplasm.
Title: KPC2 relocalizes HOXA2 to the cytoplasm and decreases its transcriptional activity.
Ectopic Hoxa2 expression results in the transformation of the proximal Meckel's cartilage and the malleus into a supernumerary styloid process (SP), a second pharyngeal arch-derived mammalian-specific skeletal structure.
Title: Distinct effects of Hoxa2 overexpression in cranial neural crest populations reveal that the mammalian hyomandibular-ceratohyal boundary maps within the styloid process.
Hoxa2 operates as a tissue-specific cofactor, enhancing Meis binding to specific sites that provide the second arch with its anatomical identity
Title: Hoxa2 selectively enhances Meis binding to change a branchial arch ground state.
The impairment of chondrogenic differentiation by Hoxa2 overexpression.
Title: Molecular study of a Hoxa2 gain-of-function in chondrogenesis: a model of idiopathic proportionate short stature.
Data show that the transcription factor Hoxa2 binds to Pcp4 chromatin and regulates Pcp4 expression in the second arch.
Title: Differential distribution of the Ca (2+) regulator Pcp4 in the branchial arches is regulated by Hoxa2.
Hoxa2 partly controls the morphogenesis of the pinna through the BMP signalling pathway and expression of Eya1, which in humans is involved in branchio-oto-renal syndrome.
Title: Mouse Hoxa2 mutations provide a model for microtia and auricle duplication.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hoxa2 (e-PCR), detects polymorphism
- UniSTS:143365

UniSTS:143366 (e-PCR)
- UniSTS:143366

Hoxa2 (e-PCR), detects polymorphism
- UniSTS:143366

Hoxa9 (e-PCR), detects polymorphism
- UniSTS:527391

Hoxa2 (e-PCR), detects polymorphism
- UniSTS:536640

NoName (e-PCR)
- UniSTS:491328

M95599 (e-PCR)
- UniSTS:125007

AI324701 (e-PCR)
- UniSTS:165466

ECD09887 (e-PCR)
- UniSTS:290928

ECD00644 (e-PCR)
- UniSTS:281753

REN100338 (e-PCR)
- UniSTS:425135

REN100339 (e-PCR)
- UniSTS:425136

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 cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific 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
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain segmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate determination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic viscerocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor neuron axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle structure development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoblast development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pharyngeal system development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within rhombomere 2 development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rhombomere 3 development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within rhombomere 3 morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within segment specification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
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: homeobox protein Hox-A2

Names: homeo box A2; homeobox protein Hox-1.11

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.