help  | about  | cite  | software

Gene : ALX4 Homo sapiens

Name  ? ALX homeobox 4 Cytological Location  11p11.2
Brief Description  ALX homeobox 4
Description  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]
  • synonyms:
  • CRS5,
  • FND2,
  • uc001myb.4,
  • aristaless-like homeobox 4,
  • PFM,
  • HGNC:450,
  • AF294629,
  • PFM2,
  • KIAA1788,
  • FPP,
  • NM_021926,
  • ALX4,
  • OTTHUMG00000166557,
  • parietal foramina 2
  • identifiers:
  • 60529,
  • ENSG00000052850,
  • ALX4

Genome feature

Region: gene ? Length: 49700  
Location: 11:44260440-44310139 reverse strand Cyto location: 11p11.2

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

415 SN Ps

5 Cross References

18 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results