COL4A4 [The Human Chemical-Genetic Interaction Map Project]

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======= COL4A4 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL4A4
  * **<color #00a2e8>Official Name</color>**: collagen type IV alpha 4 chain
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1286|1286]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P53420|P53420]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL4A4&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL4A4|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120131|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.

<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'>
|Collagen|
|C4|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|collagen type IV trimer|
|glomerular basement membrane development|
|endothelial cell morphogenesis|
|epithelial cell morphogenesis|
|extracellular matrix structural constituent conferring tensile strength|
|endothelial cell development|
|glomerulus development|
|endothelial cell differentiation|
|basement membrane|
|endothelium development|
|nephron development|
|extracellular matrix structural constituent|
|epithelial cell development|
|extracellular matrix|
|kidney development|
|renal system development|
|endoplasmic reticulum lumen|
|angiogenesis|
|urogenital system development|
|extracellular matrix organization|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|blood vessel morphogenesis|
|blood vessel development|
|vasculature development|
|cardiovascular system development|
|cell morphogenesis involved in differentiation|
|tube morphogenesis|
|epithelial cell differentiation|
|cell morphogenesis|
|cellular component morphogenesis|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|epithelium development|
|extracellular space|
|cell development|
|tissue development|
|extracellular region|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' 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'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^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|0/16|
|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>**: 9476
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.48 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL4A4 Expression in NALM6 Cells: -0.48'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>