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Ask your administrator if you think this is wrong. ======= NPHS2 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: NPHS2 * **<color #00a2e8>Official Name</color>**: NPHS2 stomatin family member, podocin * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7827|7827]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NP85|Q9NP85]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NPHS2&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NPHS2|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604766|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. * **<color #00a2e8>UniProt Summary</color>**: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton. <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'> |Band 7| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |metanephric glomerular visceral epithelial cell differentiation| |metanephric glomerular epithelium development| |metanephric glomerular epithelial cell development| |metanephric glomerular visceral epithelial cell development| |metanephric glomerular epithelial cell differentiation| |intrinsic component of the cytoplasmic side of the plasma membrane| |glomerular visceral epithelial cell development| |slit diaphragm| |metanephric glomerulus development| |glomerular epithelial cell development| |glomerular visceral epithelial cell differentiation| |renal filtration cell differentiation| |metanephric nephron epithelium development| |glomerular epithelial cell differentiation| |cell differentiation involved in metanephros development| |glomerular epithelium development| |metanephric epithelium development| |epithelial cell differentiation involved in kidney development| |metanephric nephron development| |cell differentiation involved in kidney development| |excretion| |glomerulus development| |actin cytoskeleton reorganization| |metanephros development| |nephron epithelium development| |nephron development| |kidney epithelium development| |cell-cell junction| |epithelial cell development| |membrane raft| |kidney development| |renal system development| |urogenital system development| |actin cytoskeleton organization| |actin filament-based process| |protein-containing complex| |epithelial cell differentiation| |endoplasmic reticulum| |cytoskeleton organization| |epithelium development| |integral component of plasma membrane| |cell development| |tissue development| |system process| </modal> \\ === CRISPR Data === <button type='primary' 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'> ^Screen^Score^ |[[:results:exp121|Golgicide-A 2μM R03 exp121]]|-1.89| |[[:results:exp329|Hydroxyurea 100μM R07 exp329]]|1.77| |[[:results:exp281|Disulfiram 4.3μM R06 exp281]]|1.82| |[[:results:exp311|2-Methoxyestradiol 0.55 to 0.75μM on day4 R07 exp311]]|1.93| |[[:results:exp288|HMS-I2 10μM R06 exp288]]|1.96| |[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|2.26| </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>**: 7049 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -7.68 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='NPHS2 Expression in NALM6 Cells: -7.68'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1