Alx4 aristaless-like homeobox 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alx4provided by MGI
Official Full Name: aristaless-like homeobox 4provided by MGI
Primary source: MGI:MGI:108359
See related: Ensembl:ENSMUSG00000040310 AllianceGenome:MGI:108359
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: lst
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic limb morphogenesis; embryonic skeletal system morphogenesis; and roof of mouth development. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; integumental system; and sensory organ. Used to study parietal foramina. Human ortholog(s) of this gene implicated in craniosynostosis; frontonasal dysplasia 2; gastrointestinal system cancer (multiple); lung cancer (multiple); and parietal foramina. Orthologous to human ALX4 (ALX homeobox 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E11.5 (RPKM 5.8), mammary gland adult (RPKM 2.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E1; 2 51.62 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (93472779..93511686)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (93642434..93681341)

Chromosome 2 - NC_000068.8 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?

Inactivation of ALX4/Alx4 causes lacrimal gland aplasia in both human and mouse. These results reveal a key role of Alx4 in mediating FGF-Shp2-FGF signaling in the neural crest for lacrimal gland development.
Title: Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis.
novel allele of Alx4 results in reduced Fgf10 expression and failure of eyelid fusion in mice
Title: A novel allele of Alx4 results in reduced Fgf10 expression and failure of eyelid fusion in mice.
Alx4 genetically interacts with and Shh and Gli3 during genital tubercle formation.
Title: Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.
A mutagenesis study characterizes a polydactylous phenotype that is caused by a nonsense mutation in the Alx4 gene.
Title: Multiple abnormalities due to a nonsense mutation in the Alx4 gene.
Progression of calvarial bone development requires Foxc1 regulation of Msx2 and Alx4.
Title: Progression of calvarial bone development requires Foxc1 regulation of Msx2 and Alx4.
Function and regulation of Alx4 in limb development entail complex genetic interactions with Gli3 and Shh.
Title: Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh.
the loss of the severe preaxial polydactyly characteristic of Gli3-/- limbs in double mutant embryos establishes that this type of polydactyly requires Alx4 function.
Title: Genetic interaction of Gli3 and Alx4 during limb development.
Alx4, is required for normal branching morphogenesis of the ductal epithelia during pubescent mammary gland development.
Title: Loss of Alx4, a stromally-restricted homeodomain protein, impairs mammary epithelial morphogenesis.

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Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Chemically induced (other) (2) 1 citation
Endonuclease-mediated (2) 1 citation
Spontaneous (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF001465 (e-PCR)
- UniSTS:158985

Alx4 (e-PCR), detects polymorphism
- UniSTS:532309

Alx4 (e-PCR), detects polymorphism
- UniSTS:546651

Alx4 (e-PCR), detects polymorphism
- UniSTS:525958

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables HMG box domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction 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	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic forelimb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic hindlimb morphogenesis	IGI Inferred from Genetic Interaction 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 skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in hair follicle development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction 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 positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of apoptotic process	IGI Inferred from Genetic Interaction 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 regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within roof of mouth development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: homeobox protein aristaless-like 4

Names: ALX-4; Aristaless-like 4; Strong's luxoid; aristaless 4

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.