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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location

GO terms in NHS


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005794 Golgi apparatus
CC IEA GO:0005923 bicellular tight junction
CC IEA GO:0005925 focal adhesion
CC IEA GO:0016324 apical plasma membrane
CC IDA GO:0016604 nuclear body
CC IEA GO:0030027 lamellipodium
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Gene expression in normal tissue: NHS

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NHS


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Database
Pathway ID
Pathway Des.
No matching records found

Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD284 Palbociclib 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NHS

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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