InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ALX4

Summary

InnateDB Gene

IDBG-40847.6

Last Modified

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

Gene Symbol

ALX4

Gene Name

ALX homeobox 4

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000052850

Encoded Proteins

IDBP-40849

ALX homeobox 4

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 11:44260444-44310166

Strand

Reverse strand

Band

p11.2

Transcripts

ENST00000329255

ENSP00000332744

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 32 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	32 [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:0001501	skeletal system development
GO:0001942	hair follicle development
GO:0006351	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

Mus musculus

Bos taurus

Gene ID

Gene Order

Method

Confidence

Comments

ENSMUSG00000040310

View Gene Order

Ortholuge

SSD Ortholog

Ortholog supports species divergence

ENSBTAG00000027563

Not yet available

Ortholuge

SSD Ortholog

Ortholog supports species divergence

Cross-References

SwissProt

Q9H161

TrEMBL

UniProt Splice Variant

Entrez Gene

60529

UniGene

Hs.436055

RefSeq

NM_021926

HUGO

HGNC:450

OMIM

605420

CCDS

CCDS31468

HPRD

IMGT

EMBL

AB058691 AF294629 AF308822 AF308823 AF308824 AF308825 AJ279074 AJ279075 AJ279076 AJ279077 AJ404888

GenPept

AAG23961 AAK38835 BAB47417 CAC15060 CAC15120

RNA Seq Atlas

60529