InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALX4

Summary

InnateDB Protein

IDBP-40849.5

Last Modified

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

Gene Symbol

ALX4

Protein Name

ALX homeobox 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000332744

InnateDB Gene

IDBG-40847 (ALX4)

Protein Structure

UniProt Annotation

Function

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. {ECO:0000269PubMed:19692347}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00138, ECO:0000269PubMed:19692347}.

Disease Associations

Parietal foramina 2 (PFM2) [MIM:609597]: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome. {ECO:0000269PubMed:11106354, ECO:0000269PubMed:11137991}. Note=The disease is caused by mutations affecting the gene represented in this entry.Frontonasal dysplasia 2 (FND2) [MIM:613451]: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. {ECO:0000269PubMed:19692347}. Note=The disease is caused by mutations affecting the gene represented in this entry.Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. Note=The disease is caused by mutations affecting the gene represented in this entry.Craniosynostosis 5 (CRS5) [MIM:615529]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269PubMed:22829454}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expression is likely to be restricted to bone. Found in parietal bone.

Comments

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