ALX4 [The Human Chemical-Genetic Interaction Map Project]

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======= ALX4 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ALX4
  * **<color #00a2e8>Official Name</color>**: ALX homeobox 4
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=60529|60529]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H161|Q9H161]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ALX4&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALX4|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605420|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. {ECO:0000269|PubMed:19692347}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|OAR|
|Homeobox|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|HMG box domain binding|
|embryonic hindlimb morphogenesis|
|embryonic forelimb morphogenesis|
|hindlimb morphogenesis|
|forelimb morphogenesis|
|embryonic digit morphogenesis|
|hair follicle development|
|skin epidermis development|
|molting cycle process|
|hair cycle process|
|post-embryonic development|
|roof of mouth development|
|hair cycle|
|molting cycle|
|embryonic skeletal system morphogenesis|
|embryonic limb morphogenesis|
|embryonic appendage morphogenesis|
|embryonic skeletal system development|
|digestive tract development|
|digestive system development|
|limb morphogenesis|
|appendage morphogenesis|
|appendage development|
|limb development|
|transcription factor complex|
|anterior/posterior pattern specification|
|skeletal system morphogenesis|
|embryonic organ morphogenesis|
|muscle organ development|
|RNA polymerase II regulatory region sequence-specific DNA binding|
|regionalization|
|skin development|
|epidermis development|
|embryonic organ development|
|pattern specification process|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|muscle structure development|
|protein heterodimerization activity|
|skeletal system development|
|embryonic morphogenesis|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube development|
|animal organ morphogenesis|
|embryo development|
|epithelium development|
|positive regulation of transcription by RNA polymerase II|
|DNA binding|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of programmed cell death|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of cell death|
|positive regulation of RNA metabolic process|
|tissue development|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp401|SNS-032 25μM R07 exp401]]|1.87|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.414|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|1/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 5972
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.43 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ALX4 Expression in NALM6 Cells: -2.43'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>