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, cognitive disability, 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].

ALX homeobox 4MIM:605420Ensembl:ENSG00000052850HGNC:HGNC:450PA2475511p11.2

GO terms in ALX4

Term TypeEvidence TypeGO Term IDGO Des.
BPNASGO:0001501skeletal system development
BPIMPGO:0001942hair follicle development
BPIEAGO:0006366transcription by RNA polymerase II
BPIEAGO:0007517muscle organ development
BPIEAGO:0009791post-embryonic development
BPIEAGO:0009952anterior/posterior pattern specification
BPIEAGO:0035115embryonic forelimb morphogenesis
BPIEAGO:0035116embryonic hindlimb morphogenesis
BPIEAGO:0042733embryonic digit morphogenesis
BPIEAGO:0042981regulation of apoptotic process
BPIEAGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0048565digestive tract development
BPIEAGO:0048704embryonic skeletal system morphogenesis
BPIEAGO:0060021roof of mouth development
CCIEAGO:0005667transcription factor complex
MFIEAGO:0000977RNA polymerase II regulatory region sequence-specific DNA binding
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIEAGO:0001228transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding
MFNASGO:0003677DNA binding
MFIEAGO:0046982protein heterodimerization activity
MFIEAGO:0071837HMG box domain binding

Gene expression in normal tissue: ALX4

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ALX4

DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ALX4