ALX4
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ALX homeobox 4 | MIM:605420 | Ensembl:ENSG00000052850 | HGNC:HGNC:450 | PA24755 | 11p11.2 |
Gene Categories:
TRANSCRIPTION FACTOR COMPLEXGO terms in ALX4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | NAS | GO:0001501 | skeletal system development |
| BP | IMP | GO:0001942 | hair follicle development |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0007517 | muscle organ development |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | IEA | GO:0035115 | embryonic forelimb morphogenesis |
| BP | IEA | GO:0035116 | embryonic hindlimb morphogenesis |
| BP | IEA | GO:0042733 | embryonic digit morphogenesis |
| BP | IEA | GO:0042981 | regulation of apoptotic process |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048565 | digestive tract development |
| BP | IEA | GO:0048704 | embryonic skeletal system morphogenesis |
| BP | IEA | GO:0060021 | roof of mouth development |
| CC | IDA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | IEA | GO:0005667 | transcription factor complex |
| MF | IEA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | NAS | GO:0003677 | DNA binding |
| MF | IEA | GO:0046982 | protein heterodimerization activity |
| MF | IEA | GO:0071837 | HMG box domain binding |
Gene expression in normal tissue: ALX4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALX4
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALX4
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