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
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
SSD Ortholog
Ortholog supports species divergence
Not yet available
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