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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:
  • HGNC:450,
  • uc001myb.4,
  • parietal foramina 2,
  • CRS5,
  • KIAA1788,
  • FND2,
  • AF294629,
  • FPP,
  • NM_021926,
  • aristaless-like homeobox 4,
  • OTTHUMG00000166557,
  • PFM2,
  • ALX4,
  • PFM
  • identifiers:
  • 60529,
  • ENSG00000052850,
  • ALX4

Genome feature

Region: gene ? Length: 49439  
Location: 11:44260728-44310166 reverse strand Cyto location: 11p11.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

188 SN Ps

5 Cross References

18 Data Sets

29 Homologues

0 Located Features

90 Rna Seq Results