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NPHS2

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.
Protein class

Disease related genes, Human disease related genes, Potential drug targets, Transporters

Predicted location

Membrane

Single cell type specificity

Group enriched (Collecting duct cells, Early spermatids)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (NTERA-2)

Interaction

Interacts with nephrin/NPHS1 and KIRREL1. Interacts directly with CD2AP. Interacts with DDN (By similarity).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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