EFEMP1 [The Human Chemical-Genetic Interaction Map Project]

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======= EFEMP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EFEMP1
  * **<color #00a2e8>Official Name</color>**: EGF containing fibulin extracellular matrix protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2202|2202]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q12805|Q12805]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EFEMP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EFEMP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601548|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. {ECO:0000269|PubMed:19804359, ECO:0000269|PubMed:19887559, ECO:0000269|PubMed:20005202}.

<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'>
|EGF CA|
|cEGF|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|epidermal growth factor-activated receptor activity|
|post-embryonic eye morphogenesis|
|post-embryonic animal organ morphogenesis|
|post-embryonic animal morphogenesis|
|post-embryonic animal organ development|
|negative regulation of chondrocyte differentiation|
|negative regulation of cartilage development|
|epidermal growth factor receptor binding|
|embryonic eye morphogenesis|
|epidermal growth factor receptor signaling pathway|
|regulation of chondrocyte differentiation|
|regulation of cartilage development|
|ERBB signaling pathway|
|post-embryonic development|
|extracellular matrix structural constituent|
|peptidyl-tyrosine phosphorylation|
|peptidyl-tyrosine modification|
|eye morphogenesis|
|growth factor activity|
|visual perception|
|sensory perception of light stimulus|
|extracellular matrix|
|sensory organ morphogenesis|
|embryonic organ morphogenesis|
|camera-type eye development|
|eye development|
|visual system development|
|collagen-containing extracellular matrix|
|sensory system development|
|embryonic organ development|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|sensory organ development|
|embryonic morphogenesis|
|negative regulation of cell differentiation|
|enzyme linked receptor protein signaling pathway|
|calcium ion binding|
|peptidyl-amino acid modification|
|negative regulation of developmental process|
|animal organ morphogenesis|
|sensory perception|
|protein phosphorylation|
|embryo development|
|negative regulation of multicellular organismal process|
|phosphorylation|
|nervous system process|
|extracellular space|
|regulation of cell differentiation|
|extracellular region|
|system process|
</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>**: 13093
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.08 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EFEMP1 Expression in NALM6 Cells: 0.08'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>