Hoxd12 homeobox D12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hoxd12provided by MGI
Official Full Name: homeobox D12provided by MGI
Primary source: MGI:MGI:96204
See related: Ensembl:ENSMUSG00000001823 AllianceGenome:MGI:96204
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: Hox-4.7; Hox-5.6
Summary: Predicted to enable sequence-specific double-stranded DNA binding activity. Acts upstream of or within embryonic digit morphogenesis; pattern specification process; and skeletal system development. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; genitourinary system; hemolymphoid system; limb; and limb bud. Human ortholog(s) of this gene implicated in clubfoot. Orthologous to human HOXD12 (homeobox D12). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward limb E14.5 (RPKM 17.5) See more
Orthologs: human all
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Genomic context

Location:: 2 C3; 2 44.13 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (74505357..74508049)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (74675013..74677705)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

point mutation rather than the entire deletion of Hoxd12, such as in knockout and transgenic mice, causes the abnormal limb phenotype in microdactyly mice
Title: Point mutation of Hoxd12 in mice.
early posterior restriction of Hox gene products sets up an anterior-posterior prepattern, which determines the localized activation of Shh; this signal is then translated into digit morphological asymmetry by promoting the late expression of Hoxd genes
Title: A dual role for Hox genes in limb anterior-posterior asymmetry.
genes compete for a remote enhancer that recognizes the locus in a polar fashion, with a preference for 5' extremity; modifications in either number or topography of Hoxd loci induced regulatory reallocations affecting both number and morphology of digits
Title: Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs.
mutant analysis shows that Hoxd11, Hoxd12, and Hoxd13 genetically interact to form and sculpt the forelimb, a potential genetic milieu that may have been exploited by evolutionary adaptation
Title: A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse.

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Variation

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Alleles

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

Targeted (2) 1 citation
Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2Tfv8 (e-PCR), detects polymorphism
- UniSTS:142344

Hoxd12 (e-PCR), detects polymorphism
- UniSTS:143394

NoName (e-PCR)
- UniSTS:495400

Hoxd12 (e-PCR), detects polymorphism
- UniSTS:536669

Hoxd12 (e-PCR), detects polymorphism
- UniSTS:536526

Homology

Homologs of the Hoxd12 gene: The Hoxd12 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 472 organisms have orthologs with human gene Hoxd12
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor 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 embryonic digit morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: homeobox protein Hox-D12

Names: homeo box D12; homeobox protein Hox-4.7; homeobox protein Hox-5.6

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.