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 |
---|---|---|---|---|---|
OMIM IDMIM:300457 Ensembl IDEnsembl:ENSG00000188158 HGNC IDHGNC:HGNC:7820 PHARMGKB IDPA31622 Map LocationXp22.2-p22.13 |
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 |
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. |
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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 | |
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No matching records found |