NHS


Summary: This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
NHS actin remodeling regulatorMIM:300457Ensembl:ENSG00000188158HGNC:HGNC:7820PA31622Xp22.2-p22.13

GO terms in NHS


Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0005794Golgi apparatus
CCIEAGO:0005923bicellular tight junction
CCIEAGO:0005925focal adhesion
CCIEAGO:0016324apical plasma membrane
CCIDAGO:0016604nuclear body
CCIEAGO:0030027lamellipodium
CCIDAGO:0030054cell junction
BPIBAGO:0002088lens development in camera-type eye
BPIBAGO:0030154cell differentiation

Gene expression in normal tissue: NHS

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NHS


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD284Palbociclib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NHS

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