InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Alx4

Summary

InnateDB Gene

IDBG-192631.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Alx4

Gene Name

aristaless-like homeobox 4

Synonyms

lst

Species

Mus musculus

Ensembl Gene

ENSMUSG00000040310

Encoded Proteins

IDBP-192633

aristaless-like homeobox 4

IDBP-258525

aristaless-like homeobox 4

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000052850:
This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:93642384-93681339

Strand

Forward strand

Band

Transcripts

ENSMUST00000042078	ENSMUSP00000047962
ENSMUST00000111254	ENSMUSP00000106885

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	34 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity
GO:0071837	HMG box domain binding

Biological Process

GO:0001942	hair follicle development
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007389	pattern specification process
GO:0007517	muscle organ development
GO:0009791	post-embryonic development
GO:0009952	anterior/posterior pattern specification
GO:0035108	limb morphogenesis
GO:0035115	embryonic forelimb morphogenesis
GO:0035116	embryonic hindlimb morphogenesis
GO:0042733	embryonic digit morphogenesis
GO:0042981	regulation of apoptotic process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048565	digestive tract development
GO:0048704	embryonic skeletal system morphogenesis
GO:0048705	skeletal system morphogenesis
GO:0060021	palate development

Cellular Component

GO:0005634	nucleus
GO:0005667	transcription factor complex

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000052850

View Gene Order

ENSBTAG00000027563

Not yet available

Cross-References

SwissProt

O35137

TrEMBL

A2AIK5

UniProt Splice Variant

Entrez Gene

11695

UniGene

Mm.389389

RefSeq

NM_007442

OMIM

CCDS

CCDS16455

HPRD

IMGT

MGI ID

MGI:108359

MGI Symbol

Alx4

EMBL

AF001465 AL732493

GenPept

AAC39943

RNA Seq Atlas

11695