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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| NHS actin remodeling regulator | MIM:300457 | Ensembl:ENSG00000188158 | HGNC:HGNC:7820 | PA31622 | Xp22.2-p22.13 |
GO terms in NHS
| 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 |
| CC | IDA | GO:0030054 | cell junction |
| BP | IBA | GO:0002088 | lens development in camera-type eye |
| BP | IBA | GO:0030154 | cell differentiation |
Gene expression in normal tissue: NHS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NHS
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NHS
CLASSFICATION
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